Gene Summary

Name:
paired box 6
Synonyms:
Gsfaey11,  Pax-6,  Dey,  AEY11,  1500038E17Rik,  Dickie's small eye

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 placenta morphology Pax6em1(IMPC)Mbp HET E15.5 0.00
small liver Pax6em1(IMPC)Mbp HET Early adult 0.00
microphthalmia Pax6em1(IMPC)Mbp HET Early adult 0.00
anophthalmia Pax6em1(IMPC)Mbp HOM E15.5 0.00
abnormal liver morphology Pax6em1(IMPC)Mbp HET Early adult 0.00
corneal opacity Pax6em1(IMPC)Mbp HET Early adult 2.18×10-08
abnormal eye morphology Pax6em1(IMPC)Mbp HET Early adult 0.00
corneal vascularization Pax6em1(IMPC)Mbp HET Early adult 2.54×10-07
cleft palate Pax6em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Pax6em1(IMPC)Mbp HOM E15.5 0.00
facial cleft Pax6em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Pax6em1(IMPC)Mbp HET E15.5 0.00
abnormal brain morphology Pax6em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pax6em1(IMPC)Mbp HOM   Early adult 0.00
hyperactivity Pax6em1(IMPC)Mbp HET   Early adult 1.59×10-05
abnormal craniofacial morphology Pax6em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Pax6em1(IMPC)Mbp HOM E15.5 0.00
increased monocyte cell number Pax6em1(IMPC)Mbp HET Early adult 2.24×10-05
anophthalmia Pax6em1(IMPC)Mbp HET Early adult 0.00

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Viewing: all phenotypes

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.

Phenotype associated images not available

Human diseases caused by Pax6 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 Pax6 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Optic disc hypoplasia, Periphera... ORPHA:137902
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Coloboma Of Optic Nerve
Optic disc coloboma, Retinal detachment OMIM:120430
Optic Nerve Hypoplasia, Bilateral
Optic nerve hypoplasia, Optic nerve aplasia, Remnants of the hyaloid vascular system OMIM:165550

The table below shows human diseases predicted to be associated to Pax6 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Cerebellar Degeneration-Related Autoantigen 3
Abnormal cerebellum morphology OMIM:602197
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 18
Cataract OMIM:610019
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
Cataract 39, Multiple Types
Developmental cataract OMIM:615188
Cataract 45
Developmental cataract OMIM:616851
Cataract 38
Developmental cataract OMIM:614691
Cataract 13 With Adult I Phenotype
Developmental cataract OMIM:116700
Cataract 37
Developmental cataract OMIM:614422
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Megalocornea
Megalocornea OMIM:249300
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Coloboma OMIM:251505
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Coloboma OMIM:614497
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Coats Disease
Abnormal macular morphology, Abnormal anterior chamber morphology, Cataract, Retinal detachment, ... ORPHA:190
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, O... OMIM:617319
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Isolated Aniridia
Cataract, Aniridia, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Cataract 44
Developmental cataract OMIM:616509
Aniridia 2
Cataract, Aniridia OMIM:617141
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal li... ORPHA:2334
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy OMIM:300779
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Retinal vein occlusion, Cataract, Phakodonesis, Lens ... OMIM:177650
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Keratoconus OMIM:614303
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Abnormal anterior chamber morphology, Iris pigment dispersion, Abnorm... ORPHA:69736
Aniridia 3
Cataract OMIM:617142
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Dermoids Of Cornea
Corneal opacity OMIM:304730
Ectopia Lentis Et Pupillae
Cataract, Retinal detachment, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Cataract 24
Anterior polar cataract OMIM:601202
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria, Miosis OMIM:156600
Nanophthalmos 4
Microphthalmia, Reduced visual acuity, Visual impairment OMIM:615972
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Bilateral microphthalmos, Iris coloboma OMIM:611638
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Cataract 7
Visual loss, Developmental cataract, Mildly reduced visual acuity OMIM:115660
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane ORPHA:1067
Microspherophakia With Hernia
Microspherophakia, Superior lens subluxation, Retinal detachment OMIM:157150
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Congenital Primary Aphakia
Congenital aphakia, Sclerocornea, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting... ORPHA:83461
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Cataract 11, Multiple Types
Microphthalmia, Blindness, Cataract OMIM:610623
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia, Bilateral cleft lip and palate, Facial cleft OMIM:600776
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Uveal Melanoma
Zonular cataract, Retinal detachment, Iris melanoma, Vitreous hemorrhage, Mydriasis, Inferior len... ORPHA:39044
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy, Visual impairment, Reduced visual acuity OMIM:607541
Pancreas, Dorsal, Agenesis Of
Abnormality of the pancreas, Diabetes mellitus OMIM:167755
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Cataract 10, Multiple Types
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract OMIM:600881
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Developmental cataract, Cerulean cataract OMIM:601547
Trichomegaly
Cataract OMIM:190330
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Aniridia, Developmental glaucoma OMIM:206750
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Chromosome 8Q12.1-Q21.2 Deletion Syndrome
Hydrocephalus OMIM:600257
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Visual impairment, Reduced visual acuity OMIM:616335
Cataract 16, Multiple Types
Developmental cataract, Posterior polar cataract OMIM:613763
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Bilateral microphthalmos, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Cataract 9, Multiple Types
Developmental cataract, Amblyopia, Microcornea, Cataract, Microphthalmia, Progressive cataract, I... OMIM:604219
Microphthalmia, Isolated 3
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Gillespie Syndrome
Aniridia, Hypoplasia of the iris OMIM:206700
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Cataract 5, Multiple Types
Zonular cataract, Pulverulent cataract, Nuclear cataract, Anterior polar cataract, Lamellar cataract OMIM:116800
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Foveal Hypoplasia 2
Visual impairment, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia, Axenfeld anoma... OMIM:609218
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Developmental cataract, Corneal dystrophy OMIM:271320
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Hypermetropia, Deep anterior chamber, Myopia, Microspherophakia, Megalocornea, Ecto... OMIM:251750
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Retinal detachment, Microphthalmia, Macular atrophy, Retinal dy... OMIM:212550
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Microphthalmia, Coloboma, Cataract OMIM:120433
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Optic disc hypoplasia, Periphera... ORPHA:137902
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Waardenburg Syndrome, Type 2A
Premature graying of hair, White eyebrow, Heterochromia iridis, Albinism, White forelock, Partial... OMIM:193510
Dwarfism, Mental Retardation, And Eye Abnormality
Nuclear cataract, Hypoplasia of the iris OMIM:223540
Megalocornea
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Cornea verticilla... ORPHA:171673
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Hypoplasia of the fovea, Cataract, Optic n... OMIM:106210
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Nathalie Syndrome
Cataract ORPHA:2663
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Galactosemia Iv
Cataract OMIM:618881
Corneal Hypesthesia, Familial
Recurrent corneal erosions OMIM:122450
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Megalencephaly, Autosomal Dominant
Megalencephaly, Hydrocephalus OMIM:155350
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Microspherophakia-Metaphyseal Dysplasia
Microspherophakia, Retinal detachment, Lens subluxation, Lens coloboma OMIM:157151
Tietz Syndrome
White eyebrow, Hypopigmentation of hair, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Morquio Syndrome C
Corneal opacity OMIM:252300
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Retinal detachment, Cerulean cataract, Macular hypopl... OMIM:610202
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of skin pigmentation, Chorioretinal dysplasia, Abnormality of retinal pigmentation, C... OMIM:251270
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Microphthalmia, Isolated 6
Microphthalmia, Microcornea OMIM:613517
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Anencephaly, Bifid nose, M... OMIM:619452
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Hydrocephalus With Cerebellar Agenesis
Cerebellar agenesis, Hydrocephalus OMIM:307010
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Cataract 30, Multiple Types
Pulverulent cataract, Posterior polar cataract, Diffuse nuclear cataract OMIM:116300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Microcornea, Cataract, Microphthalmia, Optic disc pallor, Macular atrophy, Optic atr... OMIM:616171
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal detachment, Lens subluxation, Microphakia ORPHA:171844
Retinoschisis, Autosomal Dominant
Retinoschisis, Abnormality of macular pigmentation, Peripheral retinal degeneration OMIM:180270
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Microphthalmia, Buphthalmos OMIM:269400
Corneal Dystrophy, Lattice Type Iiia
Reduced visual acuity, Lattice corneal dystrophy, Corneal erosion, Visual impairment OMIM:608471
Galactosialidosis
Corneal opacity ORPHA:351
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Dilution, Pigmentary
Hypopigmentation of the skin, Hypopigmentation of the fundus, Hypopigmentation of hair, Iris hypo... OMIM:126070
Heterochromia Iridis
Heterochromia iridis, Asymmetry of iris pigmentation OMIM:142500
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Phthisis bulbi, Persistent pupillary membrane, Microcornea, Ca... OMIM:221900
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Iris coloboma, Posterior synechiae of the anterior chamber OMIM:616722
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Occipital encephalocele, Retinal dysplasia, Ocular anterior segment dysge... ORPHA:324416
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Coats Disease
Retinal telangiectasia, Leukocoria, Exudative retinal detachment OMIM:300216
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Ectopia Pupillae
Ectopia pupillae OMIM:129750
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Microphthalmia, Isolated 5
Optic disc drusen, Retinal pigment epithelial atrophy, Abnormality of skin pigmentation, Cystoid ... OMIM:611040
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Stargardt Disease 1
Bull's eye maculopathy, Retinitis pigmentosa inversa, Macular degeneration OMIM:248200
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Polycystic Kidney, Cataract, And Congenital Blindness
Retinal dystrophy, Cataract, Hypoplasia of the retina, Microcoria OMIM:263100
Facial Clefting, Oblique, 1
Cleft upper lip, Cleft palate, Facial cleft OMIM:600251
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Nasal Bones, Absence Of
Short columella, Narrow naris OMIM:161480
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Coloboma, Iris coloboma OMIM:610023
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Occipital Hair, White Lock Of
Abnormal hair morphology, White hair OMIM:310900
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Sensorineural hearing impairment, Microtia, Overfold... ORPHA:3216
Galactosemia Ii
Cataract OMIM:230200
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy, Blurred vision, Photophobia, Reduced visual acuity, Visual impairment OMIM:204870
Cone-Rod Dystrophy 16
Beaten bronze macular sheen, Cataract, Rod-cone dystrophy, Optic disc pallor, Macular atrophy, Co... OMIM:614500
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Retinitis Pigmentosa 84
Rod-cone dystrophy, Cataract, Macular atrophy, Macular coloboma OMIM:618220
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Spinocerebellar Ataxia 11
Cerebellar atrophy OMIM:604432
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinopathy, Cataract, Corneal opacity, Retinal detachment ORPHA:90654
Retinitis Pigmentosa 37
Rod-cone dystrophy, Cataract, Cystoid macular degeneration, Pigmentary retinopathy OMIM:611131
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the skin, Iris transillumi... OMIM:619165
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Atopic Keratoconjunctivitis
Corneal opacity, Keratoconjunctivitis sicca, Chemosis, Keratitis, Corneal neovascularization ORPHA:163934
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Ectopia pupillae, Hypoplasia of the iris OMIM:602482
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Spinocerebellar Ataxia Type 5
Cerebellar atrophy ORPHA:98766
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
Retinitis Pigmentosa 9
Cataract, Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the re... OMIM:180104
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Astigmatism, Abnormal pupil morphology, Ocu... ORPHA:54
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Shallow anterior chamber, Retinal degeneration, Microphthalmia, Macular atrophy, Cystoid macular ... OMIM:267760
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Microcephaly-Microcornea Syndrome, Seemanova Type
Microphthalmia, Microcornea, Cataract ORPHA:2528
Facial Spasm
Anisocoria OMIM:134300
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Congenital stationary night blindness, Visual impairment OMIM:300071
Hyperlysinemia, Type I
Ectopia lentis OMIM:238700
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Cataract 42
Developmental cataract OMIM:115900
Yemenite Deaf-Blind Hypopigmentation Syndrome
Chorioretinal coloboma, Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- an... OMIM:601706
Oculoauricular Syndrome
Developmental cataract, Morning glory anomaly, Retinal detachment, Ocular anterior segment dysgen... OMIM:612109
Spinocerebellar Ataxia 41
Cerebellar atrophy OMIM:616410
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Cataract 47
Microcornea, Cataract OMIM:612018
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Gms Syndrome
Tricuspid regurgitation, Rieger anomaly ORPHA:2090
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Corneal opacity, Aniridia, Developmental glaucoma ORPHA:1064
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Microphthalmia, Syndromic 12
Broad nasal tip, Anophthalmia, Wide nasal bridge, Micrognathia, Microphthalmia, Retrognathia OMIM:615524
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Microcornea, Peripheral retinal atrophy, Retinal dystrophy, Iris coloboma OMIM:615147
Retinitis Pigmentosa 4
Rod-cone dystrophy, Cataract, Pigmentary retinopathy OMIM:613731
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Nephroblastoma
Aniridia ORPHA:654
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Microphthalmia, Syndromic 13
Microphthalmia, Microcornea, Coloboma OMIM:300915
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Microcornea, Macular atrophy OMIM:602499
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia, Blurred vision, Visual field defect, Me... ORPHA:209956
Leber Congenital Amaurosis 2
Absent foveal reflex, Fundus atrophy, Cataract, Pigmentary retinopathy, Optic disc pallor, Kerato... OMIM:204100
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, High hypermetropia OMIM:251700
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Frontonasal Dysplasia With Alar Clefts
Cleft ala nasi, Underdeveloped nasal alae OMIM:203000
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Cataract, Retinal detachment, Posterior vitreous detachment, Chorior... OMIM:616468
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Iris coloboma, Palpebral edema, Ptosis, Ectopia lentis ORPHA:1259
Intestinal Botulism
Mydriasis ORPHA:178481
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Retinal dystrophy, Cataract OMIM:610156
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Anophthalmia Plus Syndrome
Anophthalmia, Non-midline cleft lip, Spina bifida, Bilateral cleft lip and palate, Cleft palate, ... ORPHA:1104
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Congenital Microcoria
Developmental cataract, Astigmatism, Iris transillumination defect, Corneal stromal edema, Hypopl... ORPHA:566
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Vitreoretinopathy, Cataract, Per... OMIM:143200
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Macrosomia With Microphthalmia, Lethal
Microphthalmia OMIM:248110
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Hypoplasia of the iris, Posterior embryotoxon, ... OMIM:180500
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Morning Glory Disc Anomaly
Cataract, Abnormality of retinal pigmentation, Optic disc coloboma, Retinal detachment ORPHA:35737
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Visual impairment, Myopia ORPHA:1574
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia OMIM:615041
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Anisocoria
Anisocoria OMIM:106240
Tietz Albinism-Deafness Syndrome
White eyebrow, Hypopigmentation of the fundus, Blue irides, White eyelashes, Generalized hypopigm... OMIM:103500
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Cleft ala nasi, Underdeveloped nasal alae, Non-midline cleft lip, Wide nasal bridge, Convex nasal... ORPHA:2007
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Hyperinsulinemic hypoglycemia, Diabetes mellitus, Glucose... OMIM:147630
Xeroderma Pigmentosum, Complementation Group D
Cataract, Telangiectasia, Microphthalmia, Keratoconjunctivitis sicca, Keratitis, Corneal neovascu... OMIM:278730
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Retina... ORPHA:139471
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Visual impairment, Mildly reduced visual acuity OMIM:164100
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Polymicrogyria, Microphthalmia, Cortical dysplasia OMIM:615771
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Spinocerebellar Ataxia 30
Cerebellar atrophy OMIM:613371
Rhiny
Anteverted nares, Short nose OMIM:180360
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis, Myopia OMIM:614819
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Mental Retardation Syndrome
Aniridia OMIM:194072
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Micrognathia, Microphthalmia, Cleft palate, Prominent nose OMIM:221950
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Leber Congenital Amaurosis 16
Cataract, Photophobia, Reduced visual acuity, Nyctalopia, Visual impairment OMIM:614186
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor, Anisocoria OMIM:619649
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma OMIM:601794
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Abnormal foveal morphology on macular OCT, Aplasia/Hypoplasia of the ... ORPHA:370097
Spastic Ataxia-Corneal Dystrophy Syndrome
Developmental cataract, Corneal dystrophy ORPHA:2572
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Rod-cone dystrophy, Cataract, Retinal coloboma ORPHA:363741
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Sclerocornea, Microcornea, Cataract, Microphthalmia, Coloboma, Ectopia pupillae OMIM:615877
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Familial Exudative Vitreoretinopathy
Vitreoretinopathy, Peripheral retinal avascularization, Macular telangiectasia, Subretinal fluid,... ORPHA:891
Loose Anagen Hair Syndrome
Fair hair, Sparse hair, Loose anagen hair OMIM:600628
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Distal Monosomy 6P
Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology, Hypoplasia of t... ORPHA:96125
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Congenital Rubella Syndrome
Microphthalmia, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris ORPHA:290
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Nathalie Syndrome
Cataract OMIM:255990
Retinitis Pigmentosa 74
Posterior polar cataract OMIM:616562
Hypomyelination-Congenital Cataract Syndrome
Developmental cataract, Abnormal cerebellum morphology ORPHA:85163
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus, Hypopigmentati... OMIM:203200
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
Chylous Ascites
Abnormal intestine morphology, Neoplasm, Pancreatitis ORPHA:1160
Ehlers-Danlos Syndrome, Beasley-Cohen Type
Bilateral microphthalmos, Cataract OMIM:608763
Iatrogenic Botulism
Mydriasis ORPHA:254509
Gms Syndrome
Tricuspid regurgitation, Rieger anomaly OMIM:138770
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Intermediate Uveitis
Band keratopathy, Optic neuritis, Macular scar, Vitreous haze, Cataract, Cystoid macular edema, P... ORPHA:279914
Wound Botulism
Mydriasis ORPHA:178475
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Leber Congenital Amaurosis
Cataract, Abnormality of retinal pigmentation, Abnormality of the optic disc, Keratoconus ORPHA:65
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Choroideremia, Retinal nonattachment, Iris hypopigmentation ORPHA:99000
Leber Congenital Amaurosis 11
Visual impairment, Reduced visual acuity OMIM:613837
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Corneal opac... ORPHA:3163
Cortical Blindness, Retardation, And Postaxial Polydactyly
Short nose OMIM:218010
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
3Q29 Microduplication Syndrome
Sclerocornea, Cataract, Microphthalmia, Aniridia, Iris coloboma ORPHA:251038
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Proximal Myotonic Myopathy
Cataract ORPHA:606
Pierson Syndrome
Uveal ectropion, Hypoplasia of the ciliary body, Retinal hemorrhage, Hypoplasia of the iris, Hypo... OMIM:609049
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Rieger anomaly OMIM:109120
Frontonasal Dysplasia 3
Microphthalmia, Cleft palate, Facial cleft OMIM:613456
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft upper lip, Optic nerve hypoplasia, High, narrow palate, Bilateral ... OMIM:607597
Neovascular Glaucoma
Iris neovascularization, Abnormal anterior chamber morphology, Retinal vascular proliferation, Re... ORPHA:94058
Oculopalatocerebral Syndrome
Microphthalmia, Leukocoria, Remnants of the hyaloid vascular system OMIM:257910
Winchester Syndrome
Corneal opacity OMIM:277950
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Amblyopia, Scintillating scotoma, Metamorphopsia, Reduced visual acuity ORPHA:97341
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Congenital corneal dystrophy OMIM:610048
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Corneal guttata, Cataract, Retinal detachment, Retinal dots... OMIM:193230
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia, Hepatomegaly, Abnormality of the liver ORPHA:1980
Phacoanaphylactic Uveitis
Abnormal vitreous humor morphology, Anterior chamber flare grade 1+, Anterior chamber cells grade... ORPHA:209959
Spondylo-Ocular Syndrome
Cataract, Retinal detachment, Aplasia/Hypoplasia of the lens, Microphthalmia, Iris hypopigmentati... ORPHA:85194
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Meckel Syndrome, Type 8
Anophthalmia, Cleft upper lip, Depressed nasal ridge, Microphthalmia, Short nose, Cleft palate, E... OMIM:613885
Birdshot Chorioretinopathy
Vitritis, Macular scar, Macular hole, Retinal thinning, Cystoid macular edema, Retinal detachment... ORPHA:179
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Cerebral dysmyelination, Hyperintensity of cerebral white matter on MRI, Respiratory failure, Cen... OMIM:611722
Waardenburg Syndrome, Type 2E
White eyebrow, Premature graying of hair, Heterochromia iridis, Hypopigmented skin patches, Hypop... OMIM:611584
Bietti Crystalline Dystrophy
Large central visual field defect, Constriction of peripheral visual field, Central scotoma, Colo... ORPHA:41751
Macular Dystrophy, Vitelliform, 5
Central scotoma, Moderately reduced visual acuity, Reduced visual acuity OMIM:616152
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
Premature Ovarian Failure 12
Microphthalmia, Macular dystrophy OMIM:616947
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Cataract 8, Multiple Types
Developmental cataract, Nuclear cataract OMIM:115665
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Inhalational Botulism
Mydriasis ORPHA:254504
Intellectual Developmental Disorder And Retinitis Pigmentosa
Peripapillary atrophy, Cataract, Optic disc pallor, Macular degeneration OMIM:618195
Coxoauricular Syndrome
Microtia, Hearing impairment OMIM:122780
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Diabetes mellitus OMIM:602485
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Cystoid macular edema, Cortical cataract, Hyperautofluorescen... OMIM:618613
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Abnormality of the optic nerve, Hypopigmenta... ORPHA:33445
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Blindness, Herpetiform corneal ulceration, Corneal ... ORPHA:137599
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cerebrooculonasal Syndrome
High palate, Anophthalmia, Solitary median maxillary central incisor, Long philtrum, Microdontia,... ORPHA:66625
Encephalocraniocutaneous Lipomatosis
Abnormal anterior chamber morphology, Hypoplasia of the iris, Sclerocornea, Microphthalmia, Limba... OMIM:613001
Dysequilibrium Syndrome
Cataract ORPHA:1766
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome
Microcephaly, Holoprosencephaly, Cerebral cortical atrophy ORPHA:2523
Leber Congenital Amaurosis 1
Optic disc drusen, Fundus atrophy, Cataract, Pigmentary retinopathy, Keratoconus, Attenuation of ... OMIM:204000
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Retinitis Pigmentosa 46
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor, Attenuation of retinal blood vesse... OMIM:612572
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Pers... ORPHA:91495
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Oliver-Mcfarlane Syndrome
Central heterochromia, Long eyebrows, Retinal degeneration, Long eyelashes, Pigmentary retinopath... OMIM:275400
Myopia, High, With Cataract And Vitreoretinal Degeneration
Cataract, Retinal detachment, Lens subluxation, Peripheral vitreoretinal degeneration OMIM:614292
Treacher Collins Syndrome 3
Abnormality of the outer ear, Conductive hearing impairment, Microtia, Coloboma OMIM:248390
Cataract 22, Multiple Types
Developmental cataract, Nuclear cataract OMIM:609741
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia OMIM:606574
Glaucoma 3, Primary Congenital, E
Megalocornea OMIM:617272
Chudley-Mccullough Syndrome
Cerebellar hypoplasia, Cerebellar dysplasia, Hydrocephalus OMIM:604213
N Syndrome
Megalocornea ORPHA:2608
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Abruzzo-Erickson Syndrome
Coloboma, Macrotia, Hearing impairment, Protruding ear OMIM:302905
Axenfeld-Rieger Syndrome
Posterior embryotoxon, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:782
Ă…land Islands Eye Disease
Color vision defect, Myopia, Hypoplasia of the fovea, Astigmatism, Difficulty adjusting from ligh... ORPHA:178333
Cofs Syndrome
Microphthalmia, Abnormality of retinal pigmentation, Cataract, Optic atrophy ORPHA:1466
Waardenburg Syndrome, Type 1
White eyebrow, Premature graying of hair, Myelomeningocele, Heterochromia iridis, Hypopigmentatio... OMIM:193500
Cataract 15, Multiple Types
Developmental cataract, Cataract, Cortical cataract, Nuclear cataract, Lamellar cataract OMIM:615274
Retinitis Pigmentosa 36
Rod-cone dystrophy, Optic disc pallor, Macular degeneration, Bone spicule pigmentation of the ret... OMIM:610599
Leber Congenital Amaurosis 4
Blindness, Keratoconus, Nyctalopia, Reduced visual acuity OMIM:604393
Exudative Vitreoretinopathy 5
Retinal exudate, Shallow anterior chamber, Exudative vitreoretinopathy, Tractional retinal detach... OMIM:613310
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Gombo Syndrome
Microphthalmia OMIM:233270
Duane Retraction Syndrome
Central heterochromia, Chorioretinal coloboma, Hypopigmented skin patches, Microcornea, Optic dis... ORPHA:233
Retinitis Pigmentosa 80
Blindness, Progressive visual loss OMIM:617781
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness, Developmental cataract OMIM:607674
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
2Q24 Microdeletion Syndrome
Microphthalmia, Coloboma, Cataract, Abnormality iris morphology ORPHA:1617
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, Hypoplasia of the fovea, Abnormality of retinal pigmentation, Albinism,... ORPHA:79435
Cataract 17, Multiple Types
Developmental cataract, Amblyopia, Microcornea, Pulverulent cataract, Nuclear cataract, Reduced v... OMIM:611544
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Chondrodysplasia-Disorder Of Sex Development Syndrome
Chorioretinal coloboma, Miosis, Hypoplasia of the iris ORPHA:1422
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Cystoid macular edema, Retinal neovascularization, Papi... ORPHA:411527
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Hypoplasia of the iris, Astigmatism, Megaloco... ORPHA:2479
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia, Iris coloboma ORPHA:139450
Botulism
Mydriasis ORPHA:1267
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Central scotoma, Visual impairment OMIM:616170
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Death in childhood, Microphthalmia, Coloboma, Hydr... OMIM:613153
Late-Onset Retinal Degeneration
Blindness, Visual loss, Adult-onset night blindness, Scotoma OMIM:605670
Nystagmus 1, Congenital, X-Linked
Reduced visual acuity, Mildly reduced visual acuity OMIM:310700
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Chorioretinal lacunae, Chorioretinal dysplasia, Microcornea, Astigma... OMIM:152950
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Color vision defect, Scotoma, Visual impairment OMIM:607476
Sveinsson Chorioretinal Atrophy
Peripapillary chorioretinal atrophy, Astigmatism OMIM:108985
Microphthalmia, Syndromic 5
Anophthalmia, Microcornea, Cataract, Optic nerve hypoplasia, Microphthalmia, Retinal dystrophy OMIM:610125
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Corneal neovascularization, Uveitis, Keratoconjunctivitis sicca OMIM:617388
Myopia 22, Autosomal Dominant
Visual impairment, Myopia, Reduced visual acuity OMIM:615420
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Microcornea, Retinal detachment, Ptosis, Ocular anterior segment dysgenesis, Microp... OMIM:615145
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Recurrent pancreatitis, Renal cortical adenoma, Parathyroid adenoma, Hamar... OMIM:145001
Ras-Associated Autoimmune Leukoproliferative Disorder
Pancytopenia, Monocytosis, Leukemia, Autoimmune thrombocytopenia, Splenomegaly, Hepatomegaly, Neu... OMIM:614470
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Morning glory anomaly, Corneal opacity, Remnants of the hyaloid vascular ... OMIM:120200
Oculocutaneous Albinism Type 3
White eyebrow, Optic nerve misrouting, Hypopigmentation of the skin, Blue irides, White eyelashes... ORPHA:79433
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination
Cataract OMIM:617393
Foodborne Botulism
Mydriasis ORPHA:228371
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy, Cataract OMIM:268050
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Optic disc pallor... OMIM:613581
Leukoencephalopathy With Dystonia And Motor Neuropathy
Hyposmia, Leukoencephalopathy, Abnormality of thalamus morphology, Abnormal motor neuron morphology OMIM:613724
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal vitreous humor morphology, Anophthalmia, Corneal dystrophy, Abnormality of the optic ner... ORPHA:1101
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Microcornea, Retinal detachment, Retinal neovasculariz... OMIM:193220
Retinitis Pigmentosa 2
Bull's eye maculopathy, Fundus atrophy, Chorioretinal degeneration, Cataract, Rod-cone dystrophy,... OMIM:312600
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced visual acuity OMIM:601553
Cataract 19, Multiple Types
Amblyopia, Cortical pulverulent cataract OMIM:615277
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, Silver-gray hair, Accumulation of melanosomes in melanocytes, Melan... OMIM:214450
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Abnormality of the dentition, Cleft palate, Median cleft li... ORPHA:1794
Senior-Loken Syndrome 6
Visual impairment, Reduced visual acuity OMIM:610189
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hypermelanotic macule, Spotty... ORPHA:241
Gracile Bone Dysplasia
Microphthalmia, Aniridia OMIM:602361
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Visual impairment, Congenital stationary night blindness, Myopia OMIM:614565
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Cataract ORPHA:75858
Holoprosencephaly 2
Solitary median maxillary central incisor, Bifid uvula, Aplasia of the nose, Microphthalmia, Subm... OMIM:157170