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Gene: Agbl1 MGI:3646469

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Gene Summary

Name:
ATP/GTP binding protein-like 1
Synonyms:
Nna1-l1,  Ccp4,  EG244071

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal optic disk morphology Agbl1em1(IMPC)J HOM   Late adult 8.39×10-07
increased total body fat amount Agbl1em1(IMPC)J HOM Late adult 1.70×10-06
abnormal vitreous body morphology Agbl1em1(IMPC)J HOM   Late adult 2.25×10-07
persistence of hyaloid vascular system Agbl1em1(IMPC)J HOM   Late adult 3.13×10-06
iris synechia Agbl1em1(IMPC)J HOM   Late adult 2.58×10-07
decreased lean body mass Agbl1em1(IMPC)J HOM Late adult 6.64×10-06
cataract Agbl1em1(IMPC)J HOM Late adult 4.75×10-05
abnormal lens morphology Agbl1em1(IMPC)J HOM Late adult 2.78×10-06
abnormal retina vasculature morphology Agbl1em1(IMPC)J HOM   Late adult 2.25×10-07
abnormal retina blood vessel morphology Agbl1em1(IMPC)J HOM   Late adult 2.25×10-07
fused cornea and lens Agbl1em1(IMPC)J HOM   Late adult 2.25×10-07

Download data as:  TSV  XLS

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lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

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Electrocardiogram (ECG)

Waveform Image

18 Images

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X-ray

XRay Images Skull Lateral Orientation

10 Images

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X-ray

XRay Images Forepaw

10 Images

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X-ray

XRay Images Skull Lateral Orientation

9 Images

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X-ray

XRay Images Forepaw

9 Images

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X-ray

XRay Images Whole Body Lateral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

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X-ray

XRay Images Skull Dorso Ventral Orientation

10 Images

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X-ray

XRay Images Whole Body Lateral Orientation

10 Images

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X-ray

XRay Images Whole Body Dorso Ventral

10 Images

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Eye Morphology

Images Ophthalmoscopy

1 Images

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Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

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Human diseases caused by Agbl1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases associated to Agbl1 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Fuchs Endothelial Corneal Dystrophy
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Corneal opacity, ... ORPHA:98974

The table below shows human diseases predicted to be associated to Agbl1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Optic atrophy ORPHA:2253
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic atrophy, Optic disc pallor OMIM:165300
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber, Iris coloboma, Retinal atrophy OMIM:616722
Wagner Vitreoretinopathy
Cataract, Optically empty vitreous, Vitreoretinopathy, Peripheral tractional retinal detachment, ... OMIM:143200
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Retinitis Pigmentosa 42
Rod-cone dystrophy, Peripapillary atrophy, Perifoveal ring of hyperautofluorescence, Cystoid macu... OMIM:612943
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Leber Hereditary Optic Neuropathy, Modifier Of
Optic atrophy, Leber optic atrophy OMIM:308905
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Cataract 50 With Or Without Glaucoma
Cataract, Retinal detachment, Persistent pupillary membrane OMIM:620253
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Optic atrophy OMIM:620086
Coats Disease
Cataract, Abnormal macular morphology, Abnormal retinal vascular morphology, Retinal detachment, ... ORPHA:190
Birdshot Chorioretinopathy
Cataract, Vitreous floaters, Abnormal retinal vascular morphology, Epiretinal membrane, Retinal d... ORPHA:179
Retinitis Pigmentosa 40
Cataract, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blo... OMIM:613801
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Central Retinal Vein Occlusion
Retinal vascular tortuosity, Papilledema, Macular degeneration, Pigmentary retinopathy, Cystoid m... ORPHA:411527
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Iris coloboma, Chorioretinal coloboma, Posterior lenticonus, Remnants of the hyaloid vascular sys... ORPHA:231736
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Optic atrophy, Corneal dystrophy ORPHA:2572
Retinitis Pigmentosa 36
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:610599
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Bardet-Biedl Syndrome 18
Cataract, Obesity, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Auditory Neuropathy And Optic Atrophy
Optic atrophy, Rod-cone dystrophy OMIM:617717
Cone-Rod Dystrophy 16
Cataract, Beaten bronze macular sheen, Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallo... OMIM:614500
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema, Increased cup-to-disc ratio OMIM:617272
Megalocornea
Cataract, Megalocornea, Astigmatism, Mosaic corneal dystrophy, Retinal detachment, Iridodonesis, ... OMIM:309300
Anterior Segment Dysgenesis 8
Cataract, Ectopia pupillae, Ectopia lentis, Iridodonesis, Microphakia, Persistent pupillary membr... OMIM:617319
Intermediate Uveitis
Cataract, Vitreous floaters, Optic neuritis, Vitreous snowballs, Epiretinal membrane, Cystoid mac... ORPHA:279914
Leber Congenital Amaurosis 13
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:612712
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Iris coloboma, Uveitis, Buphthalmos, Persistent pupillary membrane, Shallow anterior ch... OMIM:221900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Optic Atrophy 2
Optic atrophy OMIM:311050
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels OMIM:165510
Retinitis Pigmentosa 9
Cataract, Macular atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular e... OMIM:180104
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Anterior synechiae of the anterior chamber, Hypoplasia of the iris, Scle... OMIM:604229
Non Rare In Europe: Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Nuclear cataract, Poste... ORPHA:280914
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Dominant
Optic atrophy OMIM:165199
Retinitis Pigmentosa 84
Cataract, Macular atrophy, Macular coloboma, Bone spicule pigmentation of the retina, Attenuation... OMIM:618220
Aniridia 2
Cataract, Iris coloboma, Lens subluxation, Aniridia, Optic atrophy OMIM:617141
Stickler Syndrome Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Corneal opacity, Retinopathy ORPHA:90654
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio OMIM:618880
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Vitreous floaters, Peripheral vitreoretinal degeneration, Retinal detachment, Lattice r... OMIM:614292
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of th... OMIM:611040
Familial Exudative Vitreoretinopathy
Abnormal optic disc morphology, Peripheral retinal avascularization, Vitreous floaters, Cataract,... ORPHA:891
Optic Atrophy--Spastic Paraplegia Syndrome
Optic atrophy OMIM:311100
Leg, Absence Deformity Of, With Congenital Cataract
Developmental cataract, Optic nerve dysplasia, Progressive cataract OMIM:246000
Retinal Dystrophy And Obesity
Peripapillary atrophy, Astigmatism, Obesity, Retinal detachment, Retinal dots, Attenuation of ret... OMIM:616188
Optic Atrophy 9
Optic atrophy, Optic disc pallor OMIM:616289
Olivopontocerebellar Atrophy-Deafness Syndrome
Optic atrophy, Chorioretinal coloboma ORPHA:2732
Anterior Segment Dysgenesis 2
Cataract, Congenital aphakia, Anterior segment of eye aplasia, Posterior synechiae of the anterio... OMIM:610256
Friedreich Ataxia, So-Called, With Optic Atrophy And Sensorineural Deafness
Optic atrophy OMIM:136600
Leber Congenital Amaurosis 2
Cataract, Pigmentary retinopathy, Optic disc pallor, Fundus atrophy, Keratoconus, Attenuation of ... OMIM:204100
Retinitis Pigmentosa 4
Cataract, Retinal atrophy, Pigmentary retinopathy, Bone spicule pigmentation of the retina, Atten... OMIM:613731
Severe Early-Childhood-Onset Retinal Dystrophy
Abnormal macular morphology, Granular macular appearance, Rhegmatogenous retinal detachment, Reti... ORPHA:364055
Exudative Vitreoretinopathy 1
Peripheral retinal avascularization, Vitreous floaters, Subcapsular cataract, Retinal exudate, Re... OMIM:133780
Leber Congenital Amaurosis 4
Macular atrophy, Cone/cone-rod dystrophy, Optic disc pallor, Keratoconus, Attenuation of retinal ... OMIM:604393
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Claw hand deformity, Optic atrophy, Optic disc pallor OMIM:618511
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Subretinal exudate, Retinal vascular tortuosity, Retinal det... OMIM:305390
Vitreoretinal Degeneration, Snowflake Type
Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Corneal guttata, Retina... OMIM:193230
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Iris coloboma, Retinal detachment, Posterior embryotoxon, Chorioretinal coloboma, Corne... ORPHA:1473
Anterior Segment Dysgenesis 7
Cataract, Iris coloboma, Buphthalmos, Anterior synechiae of the anterior chamber, Sclerocornea, C... OMIM:269400
Cataract 21, Multiple Types
Cerulean cataract, Cortical pulverulent cataract, Peters anomaly, Iris coloboma, Retinal detachme... OMIM:610202
Oculoauricular Syndrome
Cataract, Iris cyst, Rod-cone dystrophy, Iris coloboma, Morning glory anomaly, Cone/cone-rod dyst... OMIM:612109
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Retinitis Pigmentosa 13
Subcapsular cataract, Rod-cone dystrophy, Cystoid macular edema, Asteroid hyalosis, Retinal degen... OMIM:600059
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinitis Pigmentosa 30
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:607921
Corneal Dystrophy, Groenouw Type I
Cataract, Granular corneal dystrophy, Punctate corneal dystrophy, Nodular corneal dystrophy OMIM:121900
Cataract 42
Cataract, Developmental cataract OMIM:115900
Myopia 28, Autosomal Recessive
Cataract, Retinal detachment OMIM:619781
Cataract-Microcornea Syndrome
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea ORPHA:1377
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Spastic Paraplegia 43, Autosomal Recessive
Optic atrophy, Knee flexion contracture, Ankle flexion contracture OMIM:615043
Ectopia Lentis Et Pupillae
Cataract, Ectopia pupillae, Ectopia lentis, Retinal detachment, Persistent pupillary membrane, Ir... OMIM:225200
Nathalie Syndrome
Cataract ORPHA:2663
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Chorioretinal dysplasia, Retinal detachment, Optic disc pallor, Abnormality of retinal ... OMIM:251270
Phacoanaphylactic Uveitis
Vitreoretinopathy, Abnormal corneal endothelium morphology, Tractional retinal detachment, Retina... ORPHA:209959
Retinitis Pigmentosa 86
Cortical cataract, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ret... OMIM:618613
Spastic Ataxia 7, Autosomal Dominant
Optic atrophy OMIM:108650
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Aniridia-Intellectual Disability Syndrome
Cataract, Ectopia lentis, Aniridia, Optic nerve hypoplasia ORPHA:1068
Morm Syndrome
Retinal dystrophy, Truncal obesity, Cataract, Retinal atrophy ORPHA:75858
Glaucoma 1, Open Angle, P
Increased cup-to-disc ratio OMIM:177700
Peters Anomaly
Subcapsular cataract, Thinning of Descemet membrane, Anterior synechiae of the anterior chamber, ... ORPHA:708
Retinitis Pigmentosa 71
Optic disc pallor, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Idiopathic Panuveitis
Cataract, Vitreous floaters, Vitreous snowballs, Epiretinal membrane, Cystoid macular edema, Conj... ORPHA:280921
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Cataract, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal ... OMIM:616108
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrop... OMIM:612572
Ceroid Lipofuscinosis, Neuronal, 9
Optic atrophy, Rod-cone dystrophy OMIM:609055
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Pulverulent cataract, Pigmentary retinopathy, Retinal ... OMIM:193220
Morning Glory Disc Anomaly
Optic disc coloboma, Retinal detachment, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Exfoliation Syndrome
Cataract, Mydriasis, Phakodonesis, Abnormal lens morphology, Iris hypoperfusion, Anisocoria, Pigm... OMIM:177650
Microphthalmia, Isolated, With Coloboma 10
Iris coloboma, Chorioretinal coloboma, Optic pit, Microcoria OMIM:616428
Leber Congenital Amaurosis 8
Cataract, Pigmentary retinopathy, Macular coloboma, Keratoconus, Choriocapillaris atrophy, Nummul... OMIM:613835
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Morning glory anomaly, Chorioretinal coloboma, Corneal opacity, Optic disc c... OMIM:120200
Trichomegaly
Cataract OMIM:190330
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Cerulean cataract, Optic disc pallor OMIM:616732
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Astigmatism, Retinal detachment, Optic disc pallor, Abnormality of macul... OMIM:300476
Posterior Polymorphous Corneal Dystrophy
Ectopia pupillae, Astigmatism, Anterior synechiae of the anterior chamber, Corneal stromal edema,... ORPHA:98973
Leber Congenital Amaurosis 16
Cataract, Optic disc pallor OMIM:614186
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Retinitis Pigmentosa 57
Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of... OMIM:613582
Pupillary Membrane, Persistence Of
Megalocornea, Developmental cataract, Persistent pupillary membrane OMIM:178900
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:610359
Retinitis Pigmentosa 10
Rod-cone dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of re... OMIM:180105
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Iris coloboma OMIM:120433
Leber Congenital Amaurosis
Abnormal optic disc morphology, Keratoconus, Cataract, Abnormality of retinal pigmentation ORPHA:65
Iridocorneal Endothelial Syndrome
Ectopia pupillae, Abnormal migration of corneal endothelium, Central heterochromia, Hypoplastic i... ORPHA:64734
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Optic disc pallor, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of the anterior c... OMIM:614195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Retinal dysplasia, Developme... OMIM:613154
Obsolete: Isolated Optic Nerve Hypoplasia/Aplasia
Optic disc hypoplasia, Peripheral vitreous opacities, Optic nerve hypoplasia, Chorioretinal colob... ORPHA:137902
Cataract 9, Multiple Types
Cataract, Iris coloboma, Developmental cataract, Progressive cataract, Microcornea OMIM:604219
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Bone spicule pigmentation of the retina, ... OMIM:618889
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract, Childhood-onset truncal obesity, Truncal obesity, Retinal dystrophy OMIM:610156
Ocular Pigment Dispersion With Or Without Glaucoma
Optic atrophy OMIM:600510
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the ... OMIM:618195
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Optic atrophy OMIM:618572
Eales Disease
Subhyaloid hemorrhage, Vitreous floaters, Rhegmatogenous retinal detachment, Iris neovascularizat... ORPHA:40923
Stickler Syndrome, Type V
Cataract, Vitreoretinopathy, Retinal detachment OMIM:614284
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Macular atrophy, Optic disc pallor, Retinopathy, Optic atrophy, Microcornea OMIM:616171
Retinitis Pigmentosa 25
Optic disc pallor, Chorioretinal atrophy, Bone spicule pigmentation of the retina, Attenuation of... OMIM:602772
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Macular atrophy, Iris coloboma, Corneal scarring, Retinal detachment, Buphthalmos, Chor... OMIM:212550
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Leber Congenital Amaurosis 1
Cataract, Pigmentary retinopathy, Fundus atrophy, Keratoconus, Attenuation of retinal blood vesse... OMIM:204000
Ceroid Lipofuscinosis, Neuronal, 3
Cataract, Macular degeneration, Retinal degeneration, Optic atrophy, Rod-cone dystrophy OMIM:204200
Autosomal Dominant Keratitis
Cataract, Hypoplasia of the fovea, Hypoplastic iris stroma, Limbal stem cell deficiency, Abnormal... ORPHA:2334
Spastic Paraplegia 74, Autosomal Recessive
Optic atrophy, Peripheral axonal neuropathy OMIM:616451
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613581
Leber Congenital Amaurosis 9
Macular atrophy, Retinal pigment epithelial mottling, Optic disc pallor, Macular coloboma, Retina... OMIM:608553
Multiple Mitochondrial Dysfunctions Syndrome 4
Optic atrophy OMIM:616370
Leber Congenital Amaurosis 6
Cataract, Keratoconus, Attenuation of retinal blood vessels OMIM:613826
Autosomal Recessive Spastic Paraplegia Type 45
Flexion contracture of toe, Optic atrophy, Knee flexion contracture, Ankle flexion contracture ORPHA:320396
Ceroid Lipofuscinosis, Neuronal, 11
Optic atrophy, Retinal dystrophy OMIM:614706
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
Persistent Hyperplastic Primary Vitreous
Cataract, Tractional retinal detachment, Buphthalmos, Persistent pupillary membrane, Shallow ante... ORPHA:91495
Coloboma, Ocular, Autosomal Recessive
Cataract, Iris coloboma, Lens subluxation, Optic disc coloboma, Retinal coloboma OMIM:216820
Corneal Dystrophy, Posterior Polymorphous, 1
Ectopia pupillae, Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology,... OMIM:122000
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Obesity, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Optic disc pallor, Retinal pigment epithelial atrophy, Bone... OMIM:617871
Exudative Vitreoretinopathy 6
Cataract, Retinal exudate, Cortical cataract, Retinal detachment, Tractional retinal detachment, ... OMIM:616468
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea, Rod-cone dystrophy OMIM:619082
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Retinitis Pigmentosa 62
Optic disc pallor, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Attenuation o... OMIM:614181
Galactosemia Iv
Cataract OMIM:618881
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Retinal coloboma, Obesity ORPHA:363741
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, R... OMIM:193235
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Cataract, Optic atrophy, Sensory axonal neuropathy ORPHA:329314
2Q24 Microdeletion Syndrome
Cataract, Small for gestational age, Camptodactyly of finger, Failure to thrive, Abnormality iris... ORPHA:1617
Retinitis Pigmentosa 32
Pigmentary retinopathy, Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the... OMIM:609913
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Corneal opacity, Developmental glaucoma, Abnormal De... OMIM:617315
Intracranial Hypertension, Idiopathic
Papilledema OMIM:243200
Microphthalmia, Isolated, With Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma OMIM:614497
Exudative Vitreoretinopathy 4
Peripheral retinal avascularization, Subcapsular cataract, Retinal exudate, Tractional retinal de... OMIM:601813
Norrie Disease
Cataract, Retinal detachment, Optic atrophy, Buphthalmos, Shallow anterior chamber, Hypoplasia of... OMIM:310600
Retinitis Pigmentosa 11
Macular atrophy, Rod-cone dystrophy, Macular degeneration, Optic disc pallor, Bone spicule pigmen... OMIM:600138
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Cataract, Chorioretinal coloboma ORPHA:2489
Juvenile Glaucoma
Temporal optic disc pallor, Retinal arterial occlusion, Optic neuropathy, Abnormal anterior chamb... ORPHA:98977
Retinitis Pigmentosa 70
Macular degeneration, Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:615922
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Retinitis Pigmentosa 2
Cataract, Pigmentary retinopathy, Fundus atrophy, Bull's eye maculopathy, Rod-cone dystrophy, Cho... OMIM:312600
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Optic disc pallor, Perifoveal ring of hyperautofluorescence... OMIM:620102
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Attenuation of retinal blood vessels, Rod-cone dystrophy, ... OMIM:613194
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation o... OMIM:613810
Retinitis Pigmentosa 72
Peripapillary atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of... OMIM:616469
Usher Syndrome, Type Iiib
Optic disc pallor, Bull's eye maculopathy, Attenuation of retinal blood vessels OMIM:614504
Retinitis Pigmentosa
Cataract, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Keratoconus,... ORPHA:791
Galactosemia Ii
Cataract OMIM:230200
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Peripapillary atrophy, Drusen, Epiretinal membra... ORPHA:67042
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Optic disc pallor OMIM:614296
Merrf
Optic atrophy, Multiple lipomas ORPHA:551
Retinitis Pigmentosa 63
Optic disc pallor, Rod-cone dystrophy OMIM:614494
Blindness-Scoliosis-Arachnodactyly Syndrome
Cataract, Retinal detachment, Microphakia, Abnormality of retinal pigmentation, Lens subluxation ORPHA:171844
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Optic disc pallor, P... OMIM:617087
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:608380
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Iris coloboma, Flat cornea, Shallow anterior chamber, Chorioretinal coloboma, Op... OMIM:602499
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:613983
Kahrizi Syndrome
Cataract, Knee flexion contracture, Iris coloboma, Elbow contracture OMIM:612713
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract, Retinopathy OMIM:183800
Retinitis Pigmentosa 38
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Peripheral retinal atrophy OMIM:613862
Cone-Rod Dystrophy 17
Optic disc pallor, Cone/cone-rod dystrophy OMIM:615163
Infantile Spasms-Broad Thumbs Syndrome
Cataract, Vaginal hernia, Optic disc pallor ORPHA:3173
Irvan Syndrome
Vitreous floaters, Retinal exudate, Retinal detachment, Tractional retinal detachment, Optic atro... ORPHA:209943
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Cofs Syndrome
Cataract, Camptodactyly of finger, Abnormality of retinal pigmentation, Arthrogryposis multiplex ... ORPHA:1466
Retinitis Pigmentosa 66
Posterior subcapsular cataract, Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation ... OMIM:615233
Uveal Melanoma
Zonular cataract, Mydriasis, Ciliary body melanoma, Iris melanoma, Retinal detachment, Vitreous h... ORPHA:39044
Optic Atrophy 12
Optic atrophy, Optic disc pallor OMIM:618977
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Rod-cone dystrophy, Congenital stationary night blindness OMIM:616389
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Oculopalatocerebral Syndrome
Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Bone spicule pigmentation of the retina, Attenuation of r... OMIM:617304
Retinitis Pigmentosa 73
Peripapillary atrophy, Retinal atrophy, Epiretinal membrane, Optic disc pallor, Bone spicule pigm... OMIM:616544
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Cataract, Subcapsular cataract, Decreased nerve conduction velocity, Achilles tendon contracture,... OMIM:612674
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Cataract 11, Multiple Types
Cataract, Developmental cataract OMIM:610623
Retinitis Pigmentosa 88
Macular degeneration, Optic disc pallor, Cystoid macular edema, Bone spicule pigmentation of the ... OMIM:618826
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Optic atrophy ORPHA:2773
Wildervanck Syndrome
Facial palsy, Lens subluxation, Pseudopapilledema ORPHA:3456
Mucolipidosis Iv
Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Retinal degeneration OMIM:252650
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels,... OMIM:601718
Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome
Optic atrophy ORPHA:1538
Senior-Loken Syndrome
Retinal dystrophy, Cataract, Abnormality of retinal pigmentation ORPHA:3156
Amoebic Keratitis
Cataract, Corneal perforation, Corneal ulceration, Abnormal corneal epithelium morphology, Puncta... ORPHA:67043
Ceroid Lipofuscinosis, Neuronal, 7
Retinopathy, Pigmentary retinopathy, Optic atrophy OMIM:610951
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Rod-cone dystrophy, Posterior subcapsular cataract OMIM:615434
Retinitis Pigmentosa 28
Optic disc pallor, Rod-cone dystrophy, Bone spicule pigmentation of the retina OMIM:606068
Striatonigral Degeneration, Infantile
Optic atrophy, Failure to thrive OMIM:271930
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia, Morning glo... OMIM:165550
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Retinitis Pigmentosa 83
Vitreous floaters, Cystoid macular edema, Asteroid hyalosis, Bone spicule pigmentation of the ret... OMIM:618173
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased sensory nerve conduction velocity, Peripheral axonal atrophy, Decreased motor nerve con... OMIM:609260
Retinitis Pigmentosa 74
Pigmentary retinopathy, Optic disc pallor, Posterior polar cataract, Rod-cone dystrophy, Obesity OMIM:616562
Optic Atrophy 6
Optic atrophy OMIM:258500
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract, Failure to thrive ORPHA:2278
Retinitis Pigmentosa 76
Peripapillary atrophy, Hyperautofluorescent macular lesion, Cystoid macular edema, Retinal thinni... OMIM:617123
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma, Failure to thrive OMIM:274270
Spastic Paraplegia 45, Autosomal Recessive
Flexion contracture, Optic atrophy OMIM:613162
Nathalie Syndrome
Cataract OMIM:255990
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor, Peripheral axonal neuropathy OMIM:619389
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ectopia lentis, Iris coloboma, Abnormality of retinal pigmentation ORPHA:1259
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentati... OMIM:617460
Spastic Paraplegia, Optic Atrophy, And Dementia
Optic atrophy, Optic disc pallor OMIM:182830
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction ORPHA:431329
Autosomal Recessive Stickler Syndrome
Cataract, Vitreoretinopathy, Retinal detachment, Astigmatism ORPHA:250984
Deafness, Sensorineural, With Peripheral Neuropathy And Arterial Disease
Papilledema, Retinal arteriolar constriction OMIM:124950
Congenital Disorder Of Glycosylation, Type Iaa
Optic disc pallor, Attenuation of retinal blood vessels, Failure to thrive OMIM:617082
Congenital Hydrocephalus
Optic atrophy, Iris coloboma, Macular hypoplasia ORPHA:2185
Chromosome 16Q12 Duplication Syndrome
Cataract, Anisocoria, Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Bardet-Biedl Syndrome 9
Cataract, Astigmatism, Truncal obesity, Retinal degeneration, Bone spicule pigmentation of the re... OMIM:615986
Neurodegeneration With Brain Iron Accumulation
Retinopathy, Optic atrophy ORPHA:385
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Leber Hereditary Optic Neuropathy
Retinal telangiectasia, Optic atrophy, Retinal vascular tortuosity ORPHA:104
Pontocerebellar Hypoplasia, Type 1E
Optic atrophy, Knee flexion contracture, Elbow flexion contracture OMIM:619303
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Cataract, Camptodactyly, Pigmentary retinopathy, Fle... OMIM:609033
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Optic atrophy OMIM:309555
Congenital Muscular Dystrophy, Fukuyama Type
Cataract, Camptodactyly of finger, Retinal dysplasia, Flexion contracture, Optic atrophy ORPHA:272
X-Linked Intellectual Disability, Najm Type
Cataract, Optic nerve hypoplasia, Failure to thrive, Chorioretinal coloboma, Optic atrophy ORPHA:163937
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Cataract, Small for gestational age, Inguinal hernia, Decreased body weight OMIM:618392
Lissencephaly 5
Cataract, Optic atrophy OMIM:615191
Leukodystrophy, Hypomyelinating, 22
Flexion contracture, Astigmatism, Optic disc pallor OMIM:619328
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Retinal vascular tortuosity OMIM:618768
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris ORPHA:1067
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Cataract, Umbilical hernia, Inguinal hernia ORPHA:1373
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy OMIM:618770
Zika Virus Disease
Abnormal optic disc morphology, Macular atrophy, Iris coloboma, Optic disc hypoplasia, Retinal pi... ORPHA:448237
Infantile-Onset Spinocerebellar Ataxia
Optic atrophy, Abnormality of the autonomic nervous system ORPHA:1186
Aniridia 1
Cataract, Hypoplasia of the fovea, Ectopia pupillae, Retinal vascular tortuosity, Ectopia lentis,... OMIM:106210
Anterior Segment Dysgenesis 3
Ectopia pupillae, Abnormal iris vasculature, Hypoplastic iris stroma, Posterior embryotoxon, Axen... OMIM:601631
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Chorioretinal dysplasia, Astigmatism, Retinal detachment, Optic atrophy, Chorioretinal ... OMIM:152950
Usher Syndrome, Type 1M
Optic disc pallor, Drusen OMIM:618632
Enhanced S-Cone Syndrome
Cataract, Vitreoretinopathy, Pigmentary retinopathy, Retinoschisis, Macular edema OMIM:268100
Retinitis Pigmentosa 1
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:180100
Retinitis Pigmentosa 78
Optic disc pallor, Cystoid macular edema OMIM:617433
Alpha-Methylacyl-Coa Racemase Deficiency
Cataract, Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy OMIM:616079
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Rod-cone dystrophy, Onion bulb formation, Segmental peripheral demyelination/remye... OMIM:311070
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon, Posterior synechiae of the anter... OMIM:602482
Macrocephaly/Megalencephaly Syndrome, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:248000
Pierson Syndrome
Cataract, Retinal vascular tortuosity, Hypopigmentation of the fundus, Rieger anomaly, Uveal ectr... OMIM:609049
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Optic disc pallor OMIM:613730
Ceroid Lipofuscinosis, Neuronal, 1
Flexion contracture, Macular degeneration, Optic atrophy, Retinal degeneration OMIM:256730
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Gyrate Atrophy Of Choroid And Retina
Cataract, Subcapsular cataract, Abnormal macular morphology, Chorioretinal hyperpigmentation, Cho... ORPHA:414
Macular Dystrophy With Central Cone Involvement
Perifoveal ring of hyperautofluorescence, Optic disc pallor, Bull's eye maculopathy, Macular dyst... OMIM:616170
Congenital Varicella Syndrome
Cataract, Atypical scarring of skin ORPHA:291
Stickler Syndrome, Type Ii
Cataract, Retinal detachment, Abnormal vitreous humor morphology OMIM:604841
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Cataract, Optic atrophy, Joint contracture OMIM:617481
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Iris hypopigmentation, Optic disc pallor, Abnormal autonomic n... ORPHA:97229
Chromosome Xp11.3 Deletion Syndrome
Cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Optic atrophy, Rod-cone d... OMIM:300578
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness
Cataract, Asteroid hyalosis, Retinal thinning OMIM:132450
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Stickler Syndrome Type 1
Cataract, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90653
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Iris coloboma, Chorioretinal coloboma, Retinal coloboma ORPHA:2921
Maternally-Inherited Diabetes And Deafness
Cataract, Retinopathy, Abnormal chorioretinal morphology, Macular dystrophy ORPHA:225
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris hypopigmentation, Iris coloboma ORPHA:3214
Glaucoma 1, Open Angle, F
Increased cup-to-disc ratio OMIM:603383
Stiff Skin Syndrome
Cataract, Lipodystrophy, Camptodactyly, Knee flexion contracture, Elbow flexion contracture OMIM:184900
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Abnormality of retinal pigmentation ORPHA:1264
Martsolf Syndrome 2
Cataract, Camptodactyly of finger, Camptodactyly, Developmental cataract, Decreased body weight OMIM:619420
Tubulointerstitial Nephritis And Uveitis Syndrome
Cataract, Panuveitis, Papilledema, Choroidal neovascularization, Cystoid macular edema, Posterior... ORPHA:91500
Spastic Paraplegia 5A, Autosomal Recessive
Cataract, Optic atrophy OMIM:270800
Infantile Refsum Disease
Cataract, Failure to thrive, Facial palsy, Optic atrophy, Rod-cone dystrophy ORPHA:772
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy OMIM:300928
Nance-Horan Syndrome
Cataract, Retinal detachment, Microcornea ORPHA:627
Neonatal Adrenoleukodystrophy
Cataract, Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Cataract, Optic disc pallor, Bone spicule pigmentation of the retina, Optic atrophy, Rod-cone dys... OMIM:268315
Retinitis Pigmentosa 12
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:600105
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Truncal obesity, Bone spicule pigmentation of the retina, At... OMIM:617547
Oculo-Palato-Cerebral Syndrome
Cataract, Remnants of the hyaloid vascular system, Retinal detachment, Leukocoria ORPHA:2714
Achondrogenesis Type 2
Cataract, Retinal detachment, Abnormal vitreous humor morphology, Lens subluxation ORPHA:93296
Cataract 47
Cataract, Microcornea OMIM:612018
Optic Atrophy 5
Optic atrophy, Optic disc pallor OMIM:610708
Mitochondrial Complex I Deficiency, Nuclear Type 34
Optic atrophy, Optic disc pallor OMIM:618776
Lissencephaly 8
Cataract, Optic atrophy OMIM:617255
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cataract, Obesity, Keloids, Abnormality of retinal pigmentation ORPHA:3085
Warburg Micro Syndrome 1
Developmental cataract, Optic atrophy, Microcornea, Failure to thrive OMIM:600118
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Retinal thinning OMIM:618970
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy ORPHA:2787
Linear Verrucous Nevus Syndrome
Cataract, Iris coloboma, Aplasia/Hypoplasia of the fovea, Abnormal cornea morphology, Retinopathy ORPHA:2611
X-Linked Spinocerebellar Ataxia Type 3
Optic atrophy ORPHA:85297
Leber Congenital Amaurosis 14
Optic disc pallor, Rod-cone dystrophy, Retinal dystrophy OMIM:613341
Triple A Syndrome
Motor axonal neuropathy, Optic atrophy, Iris coloboma ORPHA:869
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal macular morphology, Iris hypopigmentation, Astigmatism, Abnorma... ORPHA:54
Aniridia 3
Cataract, Aniridia OMIM:617142
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy OMIM:619527
Srd5A3-Cdg
Cataract, Optic disc hypoplasia, Optic atrophy, Rod-cone dystrophy, Coloboma ORPHA:324737
Prune1-Related Neurological Syndrome
Cataract, Retinopathy, Optic atrophy ORPHA:544469
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Facial palsy, Optic atrophy ORPHA:178377
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Per... ORPHA:101082
3-Methylglutaconic Aciduria Type 4
Cataract, Iris hypopigmentation, Failure to thrive ORPHA:67048
Harel-Yoon Syndrome
Developmental cataract, Optic atrophy, Corneal opacity, Peripheral axonal neuropathy OMIM:617183
Spastic Paraplegia 75, Autosomal Recessive
Astigmatism, Optic atrophy OMIM:616680
Congenital Muscular Dystrophy With Cerebellar Involvement
Cataract, Megalocornea, Retinal detachment, Optic nerve hypoplasia, Abnormality iris morphology, ... ORPHA:370959
Vogt-Koyanagi-Harada Disease
Cataract, Retinal detachment ORPHA:3437
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia
Optic atrophy, Peripheral axonal neuropathy OMIM:620221
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cataract, Macular atrophy, Optic disc pallor, Retinal degeneration, Macular coloboma, Abnormal au... OMIM:619260
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Optic disc pallor ORPHA:98890
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Retinal detachment, Corneal opacity, Coloboma OMIM:613153
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Cataract, Phakodonesis, Ectopia lentis, Spontaneous conjunctival filtering bleb, Spherophakia, Sh... OMIM:601552
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood ... OMIM:604116
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Optic atrophy OMIM:619052
Spinocerebellar Ataxia 7
Pigmentary retinopathy, Macular degeneration, Optic atrophy OMIM:164500
Microphthalmia, Syndromic 5
Cataract, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Coloboma OMIM:610125
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cataract, Macular degeneration OMIM:619780
Diencephalic Syndrome
Optic atrophy, Decreased body weight, Cachexia ORPHA:1672
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the... OMIM:612095
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract, Lenticonus, Retinal dystrophy OMIM:613763
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Microphthalmia With Brain And Digit Anomalies
Cataract, Iris coloboma, Chorioretinal coloboma, Sclerocornea, Microcornea, Retinal dystrophy ORPHA:139471
Retinitis Pigmentosa 58
Macular degeneration, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:613617
Cone-Rod Dystrophy 20
Optic disc pallor, Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy OMIM:615973
Congenital Disorder Of Glycosylation, Type Iq
Cataract, Optic atrophy, Coloboma, Failure to thrive OMIM:612379
Leukodystrophy, Hypomyelinating, 24
Cataract, Flexion contracture, Peripheral axonal neuropathy, Decreased motor nerve conduction vel... OMIM:619851
Mitochondrial Complex I Deficiency, Nuclear Type 7
Optic atrophy, Failure to thrive OMIM:618229
Otodental Syndrome
Cataract, Lens coloboma, Iris coloboma, Retinal coloboma, Abnormal dental enamel morphology, Micr... ORPHA:2791
Pellagra-Like Syndrome
Cataract OMIM:260650
Jalili Syndrome
Macular atrophy, Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Optic disc pallor,... OMIM:217080
Joubert Syndrome 9
Cataract, Astigmatism, Retinal dystrophy OMIM:612285
Infantile Cerebellar-Retinal Degeneration
Optic atrophy, Decreased body weight, Failure to thrive, Retinal dystrophy OMIM:614559
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Megalocornea, Iridodonesis, Microspherophakia, Buphthalmos, Deep anterior chamber OMIM:251750
Distal Deletion 6P
Ectopia pupillae, Abnormal anterior chamber morphology, Hypoplasia of the iris, Anterior synechia... ORPHA:96125
Usher Syndrome Type 3
Cataract, Astigmatism, Iris hypopigmentation ORPHA:231183
Muscle-Eye-Brain Disease
Cataract, Optic atrophy ORPHA:588
Galactose Mutarotase Deficiency
Cataract, Failure to thrive ORPHA:570422
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cataract, Macular degeneration, Tortuosity of conjunctival vessels ORPHA:284289
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Retinal detachment, Optic nerve hypoplasia, Retinal dysplasia, Remnants of the hyaloid ... OMIM:614643
Developmental And Epileptic Encephalopathy 93
Optic atrophy, Iris coloboma OMIM:618012
Corneal Dystrophy, Posterior Polymorphous, 3
Ectopia pupillae, Inguinal hernia, Corneal guttata, Corneal dystrophy, Keratoconus OMIM:609141
Peroxisome Biogenesis Disorder 8B
Cataract, Failure to thrive, Peripheral demyelination, Optic atrophy, Retinal dystrophy OMIM:614877
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Motor axonal neuropathy, Sensory axonal neuropathy, Decreased nerve conduction velocity, Abnormal... ORPHA:457205
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, Failure to thrive OMIM:620157
Retinitis Pigmentosa 49
Rod-cone dystrophy, Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigment... OMIM:613756
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Peripheral axonal neuropathy, Optic nerve hypoplasia, Corneal opacity, Optic atrophy ORPHA:496790
Aniridia-Absent Patella Syndrome
Cataract, Inguinal hernia, Aniridia ORPHA:1069
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Abnormality of retinal pigmentation ORPHA:290
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Multiple Sclerosis-Ichthyosis-Factor Viii Deficiency Syndrome
Retrobulbar optic neuritis, Optic atrophy ORPHA:3151
Seizures, Cortical Blindness, And Microcephaly Syndrome
Optic atrophy OMIM:616632
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Optic disc pallor OMIM:612989
Mitochondrial Dna Depletion Syndrome 16B (Neuroophthalmic Type)
Optic atrophy, Peripheral axonal neuropathy OMIM:619425
Cataract 48
Cataract OMIM:618415
Cataract 6, Multiple Types
Developmental cataract, Choroideremia, Posterior polar cataract OMIM:116600
Proximal Myotonic Myopathy
Cataract ORPHA:606
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities
Retinal arteriolar constriction, Optic atrophy OMIM:249660
Leber Congenital Amaurosis 15
Peripapillary atrophy, Dull foveal reflex, Pigmentary retinopathy, Optic disc pallor, Retinal deg... OMIM:613843
Spondylo-Ocular Syndrome
Aplasia/Hypoplasia of the lens, Retinal detachment, Iris hypopigmentation, Cataract ORPHA:85194
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Cataract, Camptodactyly, Abnormal sensory nerve conduction velocity, Pigmentary retinopathy, Abno... ORPHA:88628
4H Leukodystrophy
Cataract, Optic atrophy ORPHA:289494
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Abnormal optic disc morphology, Vitreoretinopathy, Retinal vascular tortuosity ORPHA:440727
Vitamin K Antagonist Embryofetopathy
Cataract, Optic atrophy ORPHA:1914
Jalili Syndrome
Optic atrophy, Amelogenesis imperfecta, Abnormal dental enamel morphology, Abnormality of retinal... ORPHA:1873
Deafness, Dystonia, And Cerebral Hypomyelination
Optic atrophy, Failure to thrive OMIM:300475
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Cataract, Retinal detachment ORPHA:1856
Proteus-Like Syndrome
Cataract, Shagreen patch, Abnormal pupil morphology, Retinal detachment, Subcutaneous lipoma, Lim... ORPHA:2969
Congenital Disorder Of Glycosylation, Type Id
Arthrogryposis multiplex congenita, Iris coloboma, Failure to thrive, Flexion contracture, Optic ... OMIM:601110
Achromatopsia 2
Hypoplasia of the fovea, Peripapillary atrophy, Dull foveal reflex, Retinal thinning, Myopic asti... OMIM:216900
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Astigmatism, Abnormal auditory evoked potentials, Optic disc pallor OMIM:617523
Cln3 Disease
Cataract, Pigmentary retinopathy, Bull's eye maculopathy, Optic atrophy ORPHA:228346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Flexion contracture, Coloboma, Retinal degeneration OMIM:615249
Sturge-Weber Syndrome
Iris coloboma, Abnormal retinal vascular morphology, Retinal detachment, Corneal dystrophy, Heter... ORPHA:3205
Refsum Disease, Classic
Cataract, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Walker-Warburg Syndrome
Cataract, Chorioretinal dysplasia, Iris coloboma, Retinal detachment, Corneal opacity, Retinal dy... ORPHA:899
Congenital Sialidosis Type 2
Cataract, Hypoplasia of the fovea, Inguinal hernia, Umbilical hernia, Cherry red spot of the macu... ORPHA:93400
Juvenile Sialidosis Type 2
Cataract, Inguinal hernia, Umbilical hernia, Cherry red spot of the macula, Corneal opacity, Opti... ORPHA:93399
Cataract 10, Multiple Types
Zonular cataract, Nuclear cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Prolonged somatosensory evoked potentials OMIM:616648
Wildervanck Syndrome
Pseudopapilledema OMIM:314600
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations
Small for gestational age, Failure to thrive, Flexion contracture, Optic atrophy, Decreased body ... OMIM:618346
Autosomal Recessive Spastic Paraplegia Type 75
Astigmatism, Temporal optic disc pallor ORPHA:459056
Microcephaly, Amish Type
Flexion contracture, Hypoplasia of the fovea, Optic atrophy, Failure to thrive OMIM:607196
Multiple Sulfatase Deficiency
Cataract, Abnormality of retinal pigmentation, Abnormality of peripheral nerve conduction, Cornea... ORPHA:585
Severe Oculo-Renal-Cerebellar Syndrome
Abnormal retinal vascular morphology, Optic atrophy, Cataract, Abnormality of retinal pigmentation ORPHA:2715
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor OMIM:619446
Pelvis-Shoulder Dysplasia
Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma OMIM:169550
Distal Deletion 13Q
Optic atrophy, Iris coloboma ORPHA:1590
Null Syndrome
Peripheral demyelination, Optic atrophy, Abnormality of peripheral nerve conduction, Decreased ne... ORPHA:280234
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Alg8-Cdg
Cataract, Small for gestational age, Camptodactyly, Abnormality of subcutaneous fat tissue, Failu... ORPHA:79325
Joubert Syndrome 28
Pigmentary retinopathy, Optic disc pallor OMIM:617121
Amaurosis-Hypertrichosis Syndrome
Retinal dystrophy, Optic atrophy, Cone/cone-rod dystrophy ORPHA:1021
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Cataract, Atypical scarring of skin ORPHA:1366
Rhizomelic Chondrodysplasia Punctata, Type 2
Cataract, Zonular cataract, Inguinal hernia, Optic nerve hypoplasia, Failure to thrive, Flexion c... OMIM:222765
Neurodevelopmental Disorder With Visual Defects And Brain Anomalies
Unilateral facial palsy, Astigmatism, Optic atrophy, Rod-cone dystrophy OMIM:618547
Peroxisome Biogenesis Disorder 9B
Cataract, Rod-cone dystrophy OMIM:614879
Congenital Tufting Enteropathy
Cataract, Corneal erosion, Failure to thrive, Punctate keratitis, Optic disc coloboma, Weight loss ORPHA:92050
Canavan Disease
Flexion contracture, Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Full Nf2-Related Schwannomatosis
Neuroma, Bilateral vestibular schwannoma, Epiretinal membrane, Cortical cataract, Facial palsy, P... ORPHA:637
Opticocochleodentate Degeneration
Optic atrophy OMIM:258700
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Ectopia pupillae, Astigmatism, Enamel hypoplasia, Scarring alopecia of scalp, Optic atr... OMIM:618727
Vici Syndrome
Cataract, Optic atrophy, Abnormal macular morphology, Abnormality of retinal pigmentation ORPHA:1493
Crouzon Syndrome
Optic atrophy, Conjunctivitis, Iris coloboma ORPHA:207
Coenzyme Q10 Deficiency, Primary, 2
Optic atrophy, Overweight, Obesity OMIM:614651
Wolfram Syndrome 1
Cataract, Pigmentary retinopathy, Optic atrophy OMIM:222300
Trisomy 13
Cataract, Iris coloboma, Abnormal retinal vascular morphology, Hernia, Aplasia/Hypoplasia of the ... ORPHA:3378
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Brushfield spots, Camptodactyly, Pigmentary retinopathy, Failure to thrive, Optic nerve... OMIM:214110
Warburg Micro Syndrome 3
Cataract, Shallow anterior chamber, Developmental cataract, Flexion contracture, Optic atrophy, M... OMIM:614222
Warburg Micro Syndrome 2
Cataract, Developmental cataract, Flexion contracture, Optic atrophy, Microcornea OMIM:614225
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Motor axonal neuropathy, Sensory axonal neuropathy, Optic disc pallor, Flexion contracture, Optic... OMIM:609541
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Iris transillumination defect, Decreased body weight, Microcornea, Coloboma OMIM:617306
Donnai-Barrow Syndrome
Cataract, Iris coloboma, Umbilical hernia, Retinal detachment, Omphalocele, Hypoplasia of the iri... OMIM:222448
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Cataract, Opto-chiasmatic atrophy, Optic atrophy OMIM:620089
Alpha-Mannosidosis, Adult Form
Cataract, Optic disc pallor, Corneal opacity ORPHA:309288
Short Syndrome
Lipodystrophy, Inguinal hernia, Megalocornea, Abnormal pupil morphology, Abnormal anterior chambe... ORPHA:3163
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Autosomal Dominant Optic Atrophy Plus Syndrome
Motor axonal neuropathy, Temporal optic disc pallor, Absent brainstem auditory responses, Abnorma... ORPHA:1215
Norrie Disease
Cataract, Anterior chamber synechiae, Ectopia lentis, Abnormal retinal vascular morphology, Abnor... ORPHA:649
Autosomal Dominant Optic Atrophy, Classic Form
Cataract, Optic atrophy, Temporal optic disc pallor, Morning glory anomaly ORPHA:98673
Tetraamelia-Multiple Malformations Syndrome
Cataract, Iris coloboma, Septo-optic dysplasia, Optic atrophy, Microcornea ORPHA:3301
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Developmental cataract, Flexion contracture, Optic atr... OMIM:615663
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic disc pallor, Optic atrophy, Peripheral axonal neuropathy, Decreased number of peripheral my... ORPHA:320406
Xeroderma Pigmentosum, Complementation Group B
Cataract, Pigmentary retinopathy, Decreased nerve conduction velocity, Optic atrophy OMIM:610651
Cardiomyopathy, Dilated, 1Ii
Cataract OMIM:615184
Axial Spondylometaphyseal Dysplasia
Cataract, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy, Retinal dystrophy ORPHA:168549
Hermansky-Pudlak Syndrome 8
Blue irides, Hypoplasia of the fovea, Astigmatism, Optic disc pallor, Ocular albinism, Myopic ast... OMIM:614077
Osteopetrosis, Autosomal Recessive 8
Facial palsy, Optic atrophy, Failure to thrive OMIM:615085
Oculocerebrofacial Syndrome, Kaufman Type
Chorioretinal dystrophy, Choroideremia, Failure to thrive, Abnormal optic nerve morphology, Optic... ORPHA:2707
Leber Optic Atrophy
Optic neuropathy, Central retinal vessel vascular tortuosity, Leber optic atrophy, Optic atrophy OMIM:535000
Micro Syndrome
Cataract, Retinal coloboma, Abnormality of retinal pigmentation, Optic atrophy, Microcornea ORPHA:2510
Phace Association
Optic nerve hypoplasia, Increased retinal vascularity, Developmental cataract, Horner syndrome, O... OMIM:606519
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Retinal atrophy, Megalocornea, Retinal detachment, Optic nerve hypoplasia, Buphthalmos,... OMIM:236670
Zellweger Syndrome
Cataract, Brushfield spots, Optic atrophy, Failure to thrive, Corneal opacity, Posterior embryoto... ORPHA:912
Mitochondrial Complex I Deficiency, Nuclear Type 27
Optic atrophy OMIM:618248
Craniotelencephalic Dysplasia
Optic atrophy, Septo-optic dysplasia ORPHA:1528
Papillorenal Syndrome
Cataract, Morning glory anomaly, Macular degeneration, Retinal detachment, Lens luxation, Macular... OMIM:120330
Xfe Progeroid Syndrome
Corneal scarring, Absence of subcutaneous fat, Cachexia, Enamel hypoplasia, Failure to thrive, At... OMIM:610965
Stromme Syndrome
Cataract, Retinal vascular tortuosity, Iris coloboma, Optic nerve hypoplasia, Sclerocornea, Micro... OMIM:243605
Achalasia-Addisonianism-Alacrima Syndrome