Gene Summary

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

IMPC Data Collections

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
microphthalmia Pax6em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Pax6em1(IMPC)Mbp HET E15.5 0.00
anophthalmia Pax6em1(IMPC)Mbp HOM E15.5 0.00
corneal opacity Pax6em1(IMPC)Mbp HET Early adult 1.20×10-08
corneal vascularization Pax6em1(IMPC)Mbp HET Early adult 1.84×10-07
cleft palate Pax6em1(IMPC)Mbp HOM E15.5 0.00
abnormal brain morphology Pax6em1(IMPC)Mbp HET Early adult 0.00
facial cleft Pax6em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta vasculature Pax6em1(IMPC)Mbp HOM E15.5 0.00
abnormal eye morphology Pax6em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pax6em1(IMPC)Mbp HOM   Early adult 0.00
abnormal liver morphology Pax6em1(IMPC)Mbp HET Early adult 0.00
hyperactivity Pax6em1(IMPC)Mbp HET   Early adult 1.38×10-05
small liver Pax6em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Pax6em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Pax6em1(IMPC)Mbp HET E15.5 0.00
anophthalmia Pax6em1(IMPC)Mbp HET Early adult 0.00
abnormal craniofacial morphology Pax6em1(IMPC)Mbp HOM E15.5 0.00

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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 Lateral Orientation

6 Images

Gross Morphology Embryo E14.5-E15.5

Images

26 Images

X-ray

XRay Images Whole Body Dorso Ventral

20 Images

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Generalized hyperpigmentation, Cataract 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
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Microphthalmia/Coloboma 12
Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch... OMIM:120200
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma 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
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
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
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Cataract 4, Multiple Types
Developmental cataract OMIM:115700
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
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Microphthalmia/Coloboma 10
Microphthalmia, Anophthalmia, Microcoria, Chorioretinal coloboma, Optic pit, Iris coloboma OMIM:616428
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Microphakia, Iridodonesis, Corneal stromal ... OMIM:617319
Aniridia 2
Optic atrophy, Aniridia, Cataract, Lens subluxation, Iris coloboma OMIM:617141
Coats Disease
Abnormal anterior chamber morphology, Retinal detachment, Aplasia/Hypoplasia of the iris, Abnorma... ORPHA:190
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Ectopia lentis, Aniridia ORPHA:1068
Cataract 50 With Or Without Glaucoma
Retinal detachment, Persistent pupillary membrane, Cataract OMIM:620253
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Isolated Aniridia
Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly, Aniridia ORPHA:250923
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Anterior Segment Dysgenesis 3
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... OMIM:601631
Anterior Segment Dysgenesis 5
Microphthalmia, Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Microphthalmia, Microcornea, Corneal opacity, Sclerocornea, C... OMIM:269400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Exfoliation Syndrome
Mydriasis, Phakodonesis, Pseudoexfoliation, Iris hypoperfusion, Anisocoria, Pigment deposition in... OMIM:177650
Autosomal Dominant Keratitis
Bilateral microphthalmos, Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Micr... ORPHA:2334
Cataract 44
Developmental cataract OMIM:616509
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Microphthalmia/Coloboma 3
Cataract, Microphthalmia, Iris coloboma OMIM:610092
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Microphthalmia/Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
X-Linked Corneal Dermoid
Corneal opacity, Abnormal pupil morphology ORPHA:1661
Aniridia 3
Cataract, Aniridia OMIM:617142
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Anterior Segment Dysgenesis 6
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... OMIM:617315
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Bilateral Acute Depigmentation Of The Iris
Abnormal anterior chamber morphology, Abnormal corneal endothelium morphology, Iris pigment dispe... ORPHA:69736
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Edict Syndrome
Astigmatism, Anterior polar cataract, Keratoconus, Microcornea, Hypoplasia of the iris OMIM:614303
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Cataract 11, Multiple Types
Cataract, Microphthalmia, Developmental cataract, Blindness OMIM:610623
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... ORPHA:708
Microcoria, Congenital
Miosis, Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Congenital Primary Aphakia
Microphthalmia, Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segme... ORPHA:83461
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Microphthalmia, Anophthalmia, Chorioretinal coloboma, Iris coloboma OMIM:611638
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Cataract 7
Visual loss, Mildly reduced visual acuity, Developmental cataract OMIM:115660
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Cataract 24
Anterior lenticonus, Anterior polar cataract OMIM:601202
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Anterior Segment Dysgenesis 2
Microphthalmia, Aniridia, Microcornea, Coloboma, Corneal opacity, Congenital aphakia, Anterior se... OMIM:610256
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Fryns Microphthalmia Syndrome
Tessier cleft, Microphthalmia, Neural tube defect, Anophthalmia, Bilateral cleft palate, Bilatera... OMIM:600776
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Retinal detachment, Inferior lens subluxation, Zonular cat... ORPHA:39044
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy, Reduced visual acuity, Visual impairment OMIM:607541
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Norrie Disease
Optic atrophy, Microphthalmia, Buphthalmos, Retinal dysplasia, Retinal detachment, Corneal opacit... OMIM:310600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Trichomegaly
Cataract OMIM:190330
Ectopia Lentis Et Pupillae
Iris transillumination defect, Retinal detachment, Persistent pupillary membrane, Ectopia lentis,... OMIM:225200
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Corneal dystrophy, Map-dot-fingerprint corneal dystrophy OMIM:121820
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Developmental glaucoma, Aniridia OMIM:206750
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Corneal Dystrophy, Posterior Polymorphous, 1
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... OMIM:122000
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Reduced visual acuity, Visual impairment OMIM:616335
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Cataract 42
Cataract, Developmental cataract OMIM:115900
Microphthalmia, Syndromic 16
Microphthalmia, Sclerocornea, Anophthalmia OMIM:611038
Cataract 9, Multiple Types
Microphthalmia, Microcornea, Progressive cataract, Developmental cataract, Cataract, Amblyopia, V... OMIM:604219
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia, Pancreatic islet-cell hyperplasia, Nesidioblastosis OMIM:601820
Microphthalmia/Coloboma 6
Bilateral microphthalmos, Coloboma, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... OMIM:107250
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 21, Multiple Types
Retinal detachment, Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, ... OMIM:610202
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
X-Linked Retinoschisis
Cataract, Retinoschisis ORPHA:792
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Corneal opacity, Microcornea ORPHA:2432
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Iridocorneal Endothelial Syndrome
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... ORPHA:64734
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Aniridia-Absent Patella Syndrome
Cataract, Aniridia ORPHA:1069
Facial Clefting, Oblique, 1
Cleft upper lip, Tessier number 4 facial cleft, Cleft palate, Microphthalmia OMIM:600251
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Corneal... ORPHA:171673
Aniridia 1
Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, Cataract, Hypoplas... OMIM:106210
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnormal con... OMIM:180550
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea, Iris cyst OMIM:620086
Nathalie Syndrome
Cataract ORPHA:2663
Posterior Polymorphous Corneal Dystrophy
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... ORPHA:98973
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Foveal Hypoplasia-Presenile Cataract Syndrome
Optic atrophy, Generalized hyperpigmentation, Cataract ORPHA:2253
Foveal Hypoplasia 2
Microphthalmia, Astigmatism, Axenfeld anomaly, Posterior embryotoxon, Hypoplasia of the fovea OMIM:609218
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacities, Central op... ORPHA:98957
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Tietz Syndrome
Abnormal anterior chamber morphology, Hypopigmentation of hair, Hypopigmentation of the skin, Abn... ORPHA:42665
Microphthalmia, Isolated 5
Microphthalmia, Bone spicule pigmentation of the retina, Foveoschisis, Cystoid macular edema, Opt... OMIM:611040
Cataract 6, Multiple Types
Choroideremia, Developmental cataract, Posterior polar cataract OMIM:116600
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microphthalmia, Microcornea, Remnants of the hyaloid vascular system, Chori... ORPHA:231736
Retinitis Pigmentosa 40
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613801
Anencephaly 2
Anencephaly, Anophthalmia, Median cleft palate, Cleft maxillary alveolar ridge, Median cleft uppe... OMIM:619452
Morquio Syndrome C
Corneal opacity OMIM:252300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Microphthalmia, Chorioretinal coloboma, Iris coloboma OMIM:120433
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Microphthalmia, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat c... OMIM:217300
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Microphthalmia, Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnormal... OMIM:251270
Megalocornea
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... OMIM:309300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Microphthalmia, Retinal detachment, Corneal opacity, Posterior embryotoxon, Chorio... ORPHA:1473
Blindness-Scoliosis-Arachnodactyly Syndrome
Microphakia, Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation ORPHA:171844
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber,... OMIM:614195
Nanophthalmos 4
Microphthalmia, Reduced visual acuity, Hypermetropia OMIM:615972
Isolated Arrhinia
Midline defect of the nose, Microphthalmia, Aplasia/Hypoplasia of the nasal septum, Absent nasal ... ORPHA:1134
Amyotrophic Lateral Sclerosis 3
Cerebellar atrophy OMIM:606640
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, Amblyopia, High hypermetropia OMIM:613517
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Galactosialidosis
Corneal opacity ORPHA:351
Nasal Bones, Absence Of
Narrow naris, Short columella OMIM:161480
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Neovascular Glaucoma
Abnormal anterior chamber morphology, Retinal detachment, Retinal vascular proliferation, Corneal... ORPHA:94058
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Vernal Keratoconjunctivitis
Corneal neovascularization, Corneal ulceration, Keratoconus, Keratoconjunctivitis, Punctate kerat... ORPHA:70476
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Microphthalmia, Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Retin... OMIM:221900
Coats Disease
Retinal telangiectasia, Exudative retinal detachment, Leukocoria OMIM:300216
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Corneal Dystrophy, Lattice Type Iiia
Lattice corneal dystrophy, Reduced visual acuity, Corneal erosion, Visual impairment OMIM:608471
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Ocular anterior segment dysgenesis, Microphthalmia, Retinal dysplasia, H... ORPHA:324416
Conductive Deafness-Malformed External Ear Syndrome
Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm... ORPHA:3216
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata OMIM:609141
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Microphthalmia, Coloboma, Peters anomaly, Iris coloboma OMIM:610023
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Cataract 16, Multiple Types
Lenticonus, Developmental cataract, Posterior polar cataract OMIM:613763
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular edema, Rod-cone dystrophy, Macular atr... OMIM:180104
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Gillespie Syndrome
Aniridia, Hypoplasia of the iris OMIM:206700
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin, Chorioreti... OMIM:619165
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Microphthalmia, Shallow anterior chamber, Retinal degeneration, Mac... OMIM:267760
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Cone/cone-rod dystrophy, Attenuation of retinal blood ve... OMIM:614500
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity, Retinopathy, Cataract ORPHA:90654
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Attenuation of retinal blood vessels, C... OMIM:613731
Microphthalmia, Syndromic 13
Microphthalmia, Chorioretinal coloboma, Microcornea, Iris coloboma OMIM:300915
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia ... OMIM:602482
Facial Spasm
Anisocoria OMIM:134300
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Corneal dystrophy, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Microcornea, White forelock, Patchy hypo- and hyperpigmentation, Cho... OMIM:601706
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, ... OMIM:618220
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Oculoauricular Syndrome
Microphakia, Microphthalmia, Phthisis bulbi, Ocular anterior segment dysgenesis, Chorioretinal at... OMIM:612109
X-Linked Recessive Ocular Albinism
Astigmatism, Iris hypopigmentation, Hypoplasia of the fovea, Abnormal macular morphology, Abnorma... ORPHA:54
Microphthalmia, Syndromic 12
Microphthalmia, Anophthalmia, Neonatal death, Broad nasal tip, Wide nasal bridge OMIM:615524
Galactosemia Ii
Cataract OMIM:230200
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microphthalmia, Microcornea ORPHA:2528
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Corneal stromal edema, Corneal dystrophy, Descemet Membrane Folds, Corneal ... OMIM:136800
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation ORPHA:2090
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Cataract, Optic disc pallor OMIM:165300
Cataract 47
Cataract, Microcornea OMIM:612018
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Thiel-Behnke Corneal Dystrophy
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... ORPHA:98960
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Galactosemia Iv
Cataract OMIM:618881
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Microphthalmia, Visual impairment ORPHA:1574
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, A... OMIM:204100
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Hypopigmentat... OMIM:103500
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Astigmatism, Retinal pigment epithelial mottling OMIM:300814
Nephroblastoma
Aniridia ORPHA:654
Anophthalmia Plus Syndrome
Tessier cleft, Anophthalmia, Non-midline cleft of the upper lip, Bilateral cleft palate, Spina bi... ORPHA:1104
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Upslanted palpebral fissure, Attenuat... OMIM:616108
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Idiopathic Uveal Effusion Syndrome
Microphthalmia, Visual field defect, Reduced visual acuity, Abnormal anterior eye segment morphol... ORPHA:209956
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
Frontonasal Dysplasia With Alar Clefts
Cleft ala nasi, Underdeveloped nasal alae OMIM:203000
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Temporal optic disc pallor, Anisocoria... OMIM:619649
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the ... OMIM:613195
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Retinal dystrophy, Retinal detachment, Corneal scarring, Chorioretinal coloboma, ... OMIM:212550
Congenital Microcoria
Iris transillumination defect, Abnormal pupillary light reflex, Astigmatism, Corneal stromal edem... ORPHA:566
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Vitreous floaters, Chorioretinal scar, Iris atrophy, Optic d... ORPHA:263479
Atopic Keratoconjunctivitis
Corneal neovascularization, Corneal opacity, Corneal scarring, Chemosis, Conjunctival hyperemia, ... ORPHA:163934
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, High hypermetropia OMIM:251700
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Leber Congenital Amaurosis 8
Macular coloboma, Keratoconus, Chorioretinal atrophy, Nummular pigmentation of the fundus, Chorio... OMIM:613835
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Bardet-Biedl Syndrome 18
Cataract, Rod-cone dystrophy, Retinal dystrophy OMIM:615995
Leber Congenital Amaurosis 16
Photophobia, Visual field defect, Reduced visual acuity, Cataract, Visual impairment, Nyctalopia OMIM:614186
Wagner Vitreoretinopathy
Optic atrophy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vitreoretinopathy... OMIM:143200
Intestinal Botulism
Mydriasis ORPHA:178481
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ptosis, Ectopia lentis, Abnormality of retinal pigmentation, Iris coloboma ORPHA:1259
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Spinocerebellar Ataxia 41
Cerebellar vermis atrophy, Cerebellar atrophy OMIM:616410
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Syngnathia
Cleft palate OMIM:119550
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Underdeveloped nasal alae, Wide nasal bridge, Cleft ala nasi ORPHA:2007
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri... OMIM:180500
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Retinal dystrophy, Anophthalmia, Microcornea, Sclerocornea, Chorioretinal colobom... ORPHA:139471
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Hypermetropia, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lent... OMIM:251750
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Microphthalmia, Microcornea, Retinopathy, Cataract, Macular atrophy, Optic disc pa... OMIM:616171
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment OMIM:164100
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Hypoplasia of the fovea, Hypopi... OMIM:203200
Rhiny
Short nose, Anteverted nares OMIM:180360
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Developmental cataract ORPHA:2572
Lattice Corneal Dystrophy Type I
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... ORPHA:98964
Hec Syndrome
Developmental cataract, Abnormal pupil morphology, Abnormal retinal vascular morphology ORPHA:2119
Xeroderma Pigmentosum, Complementation Group D
Microphthalmia, Corneal neovascularization, Keratitis, Conjunctivitis, Cataract, Keratoconjunctiv... OMIM:278730
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia OMIM:194072
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Nathalie Syndrome
Cataract OMIM:255990
Craniofacial Microsomia 2
Microtia, Microtia, third degree, Microtia, second degree, Microtia, first degree OMIM:620444
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma OMIM:601794
Exudative Vitreoretinopathy 2, X-Linked
Microphthalmia, Retinal detachment, Retinal fold, Shallow anterior chamber, Intraretinal exudate,... OMIM:305390
Oculocutaneous Albinism Type 6
Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Abnormal iris pigmentation... ORPHA:370097
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia, Rod-cone dystrophy, Retinal coloboma ORPHA:363741
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Congenital Rubella Syndrome
Cataract, Microphthalmia, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:290
Distal Deletion 6P
Abnormal anterior chamber morphology, Corneal opacity, Hypoplasia of the iris, Posterior embryoto... ORPHA:96125
Bietti Crystalline Dystrophy
Large central visual field defect, Constriction of peripheral visual field, Color vision defect, ... ORPHA:41751
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Microphthalmia, Macular exudate, Retinal neovascularization, Chorioretina... ORPHA:891
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal dystrophy, Increased corneal thickness, Corneal erosion OMIM:610048
Hypomyelination-Congenital Cataract Syndrome
Abnormal cerebellum morphology, Developmental cataract ORPHA:85163
Phacoanaphylactic Uveitis
Cystoid macular edema, Corneal keratic precipitates, Anterior uveitis, Panuveitis, Pseudophakia, ... ORPHA:209959
Chylous Ascites
Abnormal intestine morphology, Pancreatitis, Neoplasm ORPHA:1160
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract OMIM:246000
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Intermediate Uveitis
Band keratopathy, Cystoid macular edema, Optic neuritis, Vitreous snowballs, Vitreous floaters, V... ORPHA:279914
Pierson Syndrome
Posterior lenticonus, Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnant... OMIM:609049
Optic Atrophy 9
Red-green dyschromatopsia, Reduced visual acuity, Visual impairment, Paracentral scotoma OMIM:616289
Short Syndrome
Abnormal anterior chamber morphology, Corneal opacity, Megalocornea, Hypoplasia of the iris, Post... ORPHA:3163
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Intellectual Developmental Disorder, X-Linked, Syndromic, Armfield Type
Cataract OMIM:300261
3Q29 Microduplication Syndrome
Microphthalmia, Aniridia, Sclerocornea, Cataract, Iris coloboma ORPHA:251038
Leber Congenital Amaurosis 11
Reduced visual acuity, Visual impairment OMIM:613837
Iatrogenic Botulism
Mydriasis ORPHA:254509
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Rieger anomaly OMIM:109120
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Posterior embryotoxon, Aplasia/Hypoplasia of the iris ORPHA:782
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Persistent Placoid Maculopathy
Reduced visual acuity, Hypoplasia of the fovea, Scintillating scotoma, Metamorphopsia, Amblyopia ORPHA:97341
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea OMIM:617272
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Heterochromia iridis, Hypoplasia of the ir... OMIM:611584
Proximal Myotonic Myopathy
Cataract ORPHA:606
Adult-Onset Foveomacular Vitelliform Dystrophy
Choroideremia, Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions ORPHA:99000
Wound Botulism
Mydriasis ORPHA:178475
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 35
Reduced visual acuity, Blindness, Nyctalopia OMIM:610282
Exudative Vitreoretinopathy 5
Retinal exudate, Shallow anterior chamber, Tractional retinal detachment, Exudative vitreoretinop... OMIM:613310
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation, Astigmatism OMIM:300843
Spondylo-Ocular Syndrome
Microphthalmia, Aplasia/Hypoplasia of the lens, Retinal detachment, Low posterior hairline, Iris ... ORPHA:85194
Winchester Syndrome
Corneal opacity OMIM:277950
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Corneal guttata, Optically empty vitreous, Cataract, Snowflake ... OMIM:193230
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Ă…land Islands Eye Disease
Color vision defect, Astigmatism, Reduced visual acuity, Hypoplasia of the fovea, Difficulty adju... ORPHA:178333
Macular Dystrophy, Vitelliform, 5
Reduced visual acuity, Moderately reduced visual acuity, Central scotoma OMIM:616152
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Tessier cleft, High, narrow palate, Bilateral microphthalmos, Ethmoidal encephalocele, Optic nerv... OMIM:607597
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal stromal edema, Corneal dystrophy, Corneal guttata, Abnormal Descemet membrane morphology,... OMIM:613270
Dysequilibrium Syndrome
Cataract ORPHA:1766
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal opacity, Corneal erosion OMIM:608470
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Traboulsi Syndrome
Microphthalmia, Spherophakia, Phakodonesis, Iris atrophy, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Vitreous floaters, Lattice retinal deg... OMIM:614292
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Retinal detachment, Optic nerve hypoplasia, Reti... OMIM:615113
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Optic atrophy, Macular dystrophy, Hypopigmentation of hair, Hypopigmen... ORPHA:33445
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... ORPHA:67043
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Waardenburg Syndrome, Type 1
Premature graying of hair, Heterochromia iridis, Myelomeningocele, Synophrys, White forelock, Hyp... OMIM:193500
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Microcornea, Corneal opacity, Persistent pupillary membrane, Remnants of the hyal... ORPHA:91495
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Inhalational Botulism
Mydriasis ORPHA:254504
Cerebrooculonasal Syndrome
Tessier cleft, Widely spaced teeth, Solitary median maxillary central incisor, Anophthalmia, High... ORPHA:66625
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Hypopigmentation of the fundus, Albinism, Blue irides, Macular hypoplasia OMIM:606574
Leber Congenital Amaurosis 1
Optic disc drusen, Keratoconus, Fundus atrophy, Attenuation of retinal blood vessels, Cataract, P... OMIM:204000
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Frontonasal Dysplasia 3
Tessier cleft, Microphthalmia, Cleft palate OMIM:613456
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Congenital stationary night blindness, Reduced visual acuity, Moderate myopia OMIM:163500
Abruzzo-Erickson Syndrome
Hearing impairment, Macrotia, Protruding ear, Coloboma OMIM:302905
Woolly Hair Nevus
Persistent pupillary membrane, Heterochromia iridis ORPHA:79414
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Cataract 17, Multiple Types
Microcornea, Amblyopia, Developmental cataract, Reduced visual acuity, Nuclear cataract, Pulverul... OMIM:611544
N Syndrome
Megalocornea ORPHA:2608
Gracile Bone Dysplasia
Hydrocephalus, Microphthalmia, Aniridia, Death in infancy OMIM:602361
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Developmental cataract, Blindness OMIM:607674
Leber Congenital Amaurosis 4
Keratoconus, Reduced visual acuity, Blindness, Nyctalopia OMIM:604393
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Reduced visual acuity, Ring scotoma, Nyctalopia OMIM:607476
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus OMIM:604213
Cofs Syndrome
Optic atrophy, Microphthalmia, Abnormality of retinal pigmentation, Cataract ORPHA:1466
Usher Syndrome Type 3
Astigmatism, Visual loss, Scotoma, Hemianopia, Iris hypopigmentation, Cataract, High hypermetropi... ORPHA:231183
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Oliver-Mcfarlane Syndrome
Peripheral axonal neuropathy, Long eyebrows, Long eyelashes, Central heterochromia, Retinal degen... OMIM:275400
Retinal Cone Dystrophy 3B
Astigmatism, Scotoma, Photophobia, Reduced visual acuity, Myopia, Nyctalopia OMIM:610356
Retinitis Pigmentosa 2
Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy, Cataract, Rod-cone dystrophy,... OMIM:312600
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
2Q24 Microdeletion Syndrome
Abnormality iris morphology, Coloboma, Microphthalmia, Cataract ORPHA:1617
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ... ORPHA:79435
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Gombo Syndrome
Microphthalmia OMIM:233270
Sveinsson Chorioretinal Atrophy
Astigmatism, Peripapillary chorioretinal atrophy OMIM:108985
Central Retinal Vein Occlusion
Retinal neovascularization, Macular degeneration, Cystoid macular edema, Intraretinal hemorrhage,... ORPHA:411527
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Chondrodysplasia-Difference Of Sex Development Syndrome
Miosis, Chorioretinal coloboma, Hypoplasia of the iris ORPHA:1422
Megalocornea-Intellectual Disability Syndrome
Abnormal anterior chamber morphology, Iridodonesis, Astigmatism, Megalocornea, Hypoplasia of the ... ORPHA:2479
Wagro Syndrome
Cataract, Corneal opacity, Aniridia OMIM:612469
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia, Iris coloboma ORPHA:139450
Microphthalmia, Syndromic 5
Microphthalmia, Retinal dystrophy, Anophthalmia, Optic nerve hypoplasia, Microcornea, Cataract OMIM:610125
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Vitreoretinochoroidopathy
Microphthalmia, Retinal detachment, Microcornea, Abnormality of chorioretinal pigmentation, Retin... OMIM:193220
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Encephalocraniocutaneous Lipomatosis
Limbal dermoid, Microphthalmia, Sclerocornea, Hypoplasia of the iris OMIM:613001
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Morm Syndrome
Cataract, Retinal atrophy, Retinal dystrophy ORPHA:75858
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal dystrophy, Corneal scarring OMIM:602082
Botulism
Mydriasis ORPHA:1267
Nystagmus 1, Congenital, X-Linked
Mildly reduced visual acuity, Reduced visual acuity OMIM:310700
Senior-Loken Syndrome
Cataract, Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microphthalmia, Astigmatism, Myopic astigmatism, Retinal detachment, Microcornea, ... OMIM:152950
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Tessier cleft, Bilateral cleft palate, Anterior encephalocele, Cleft upper lip, Bilateral cleft lip OMIM:601357
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Retinitis Pigmentosa 10
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Geographic atrophy, Bull... OMIM:180105
Epithelial Recurrent Erosion Dystrophy
Corneal erosion OMIM:122400
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Retinopathy Of Prematurity
Amblyopia, Reduced visual acuity, Cataract, Myopia, Blindness ORPHA:90050
Neuhauser Syndrome
Corneal arcus, Iris transillumination defect, Iridodonesis, Retinal detachment, Megalocornea, Hyp... OMIM:249310
Microphthalmia/Coloboma 9
Macular coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Retinal detachment, Microco... OMIM:615145
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Corneal neovascularization, Keratoconjunctivitis sicca, Uveitis OMIM:617388
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Abnormal vitreous humor morphology, Aniridia, Anophthalmia, Corneal dystrophy, Megalocornea, Abno... ORPHA:1101
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Type II diabetes mellitus, Hyperinsulinemic hypoglycemia,... OMIM:147630
Intellectual Developmental Disorder, Autosomal Recessive 67
Sensorineural hearing impairment, Coloboma, Posteriorly rotated ears OMIM:618295
Microphthalmia/Coloboma 12
Microphthalmia, Corneal opacity, Remnants of the hyaloid vascular system, Optic nerve aplasia, Ch... OMIM:120200
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613581
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Microcornea, Absent foveal reflex, Peripheral retinal atrophy, Iris coloboma OMIM:615147
Weill-Marchesani Syndrome 3
Microspherophakia, High myopia, Ectopia lentis, Shallow anterior chamber OMIM:614819
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia, High palate, Choanal atresia, Cleft palate, Abnormality of the sense of smell, Ap... ORPHA:1135
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Renal cortical adenoma, Recurrent pancreatitis, Papillary renal cell carci... OMIM:145001
Cataract 19, Multiple Types
Cortical pulverulent cataract, Amblyopia OMIM:615277
Myopia 23, Autosomal Recessive
High myopia, Increased axial length of the globe, Reduced visual acuity, Visual impairment OMIM:615431
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Freckling, Spotty... ORPHA:241
Congenital Hereditary Endothelial Dystrophy Type Ii
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... ORPHA:293603
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Oculomaxillofacial Dysostosis
Tessier cleft, Abnormality of the dentition, Aplasia/Hypoplasia affecting the eye, Cleft palate, ... ORPHA:1794
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Foodborne Botulism
Mydriasis ORPHA:228371
Oculocutaneous Albinism Type 3
Blue irides, Optic nerve misrouting, Red hair, Hypopigmentation of the skin, Iris hypopigmentatio... ORPHA:79433
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis, Myopia OMIM:110150
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Duane Retraction Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Optic disc hypoplasia, Aniridia, Spina b... ORPHA:233
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Chorioretinal atrophy, A... OMIM:602772
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormal corneal endothelium morphology, Posterior subcapsular catar... ORPHA:364055
Leukoencephalopathy With Vanishing White Matter 2
Optic atrophy, Cataract OMIM:620312
Late-Onset Retinal Degeneration
Iris transillumination defect, Drusen, Choroidal neovascularization, Patchy atrophy of the retina... ORPHA:67042
Donnai-Barrow Syndrome
Retinal dystrophy, Retinal detachment, Hypoplasia of the iris, Cataract, Iris coloboma OMIM:222448
Idiopathic Panuveitis
Choroidal neovascularization, Cystoid macular edema, Vitreous floaters, Vitreous snowballs, Conju... ORPHA:280921
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Microphthalmia, Coloboma OMIM:274270
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy, Iris atrophy OMIM:620422
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Microphthalmia, Death in childhood, Retinal detachment, Hydrocephalus, Coloboma, Corneal opacity,... OMIM:613153
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy, Hypertrophic cardiomyopathy ORPHA:1369
Retinitis Pigmentosa 77
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Cystoid macular edema, R... OMIM:617304
Retinitis Pigmentosa 43
Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Pigmentary retinopathy, ... OMIM:613810
Retinitis Pigmentosa 78
Photopsia, Visual field defect, Reduced visual acuity, Nyctalopia OMIM:617433
Choroideremia
Abnormality of vision, Myopia, Progressive visual loss, Visual impairment, Nyctalopia ORPHA:180
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Achromatopsia 3
Achromatopsia, Photophobia, Monochromacy, Dyschromatopsia, High myopia, Cataract, Severely reduce... OMIM:262300
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Retinal detachment, Abnormal eyelash morph... ORPHA:3437
Fuchs Endothelial Corneal Dystrophy