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 liver morphology Pax6em1(IMPC)Mbp HET Early adult 0.00
corneal vascularization Pax6em1(IMPC)Mbp HET Early adult 2.01×10-07
cleft palate Pax6em1(IMPC)Mbp HOM E15.5 0.00
anophthalmia Pax6em1(IMPC)Mbp HOM E15.5 0.00
abnormal eye morphology Pax6em1(IMPC)Mbp HET Early adult 0.00
anophthalmia 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
small liver Pax6em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Pax6em1(IMPC)Mbp HOM E15.5 0.00
abnormal craniofacial morphology Pax6em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Pax6em1(IMPC)Mbp HET E15.5 0.00
hyperactivity Pax6em1(IMPC)Mbp HET   Early adult 1.13×10-05
abnormal placenta morphology Pax6em1(IMPC)Mbp HET E15.5 0.00
corneal opacity Pax6em1(IMPC)Mbp HET Early adult 1.54×10-08
microphthalmia Pax6em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Pax6em1(IMPC)Mbp HOM   Early adult 0.00
abnormal brain morphology 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.

MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

Gross Morphology Embryo E14.5-E15.5

Images

26 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
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract ORPHA:893
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... OMIM:120200
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia 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
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
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
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, Megalocornea, Persistent pupillary membrane OMIM:178900
Microphthalmia, Isolated, With Coloboma 4
Microcornea, Microphthalmia, Coloboma OMIM:251505
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Aniridia 2
Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma OMIM:617141
Anterior Segment Dysgenesis 8
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... OMIM:617319
Coats Disease
Retinal detachment, Cataract, Abnormal retinal vascular morphology, Aplasia/Hypoplasia of the iri... ORPHA:190
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Aniridia-Intellectual Disability Syndrome
Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis ORPHA:1068
Cataract 50 With Or Without Glaucoma
Retinal detachment, Cataract, Persistent pupillary membrane OMIM:620253
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Isolated Aniridia
Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly ORPHA:250923
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Anterior Segment Dysgenesis 7
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... OMIM:269400
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop... OMIM:604229
Anterior Segment Dysgenesis 3
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... OMIM:601631
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal opacity, Corneal dystrophy OMIM:609140
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Exfoliation Syndrome
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... OMIM:177650
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cataract 44
Developmental cataract OMIM:616509
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro... ORPHA:2334
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Corneal Dystrophy, Endothelial, X-Linked
Corneal opacity, Corneal dystrophy, Band keratopathy OMIM:300779
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Aniridia 3
Aniridia, Cataract OMIM:617142
Microphthalmia, Isolated 2
Microphthalmia, Opacification of the corneal stroma OMIM:610093
Anterior Segment Dysgenesis 6
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... OMIM:617315
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Bilateral Acute Depigmentation Of The Iris
Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig... ORPHA:69736
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Cataract 11, Multiple Types
Microphthalmia, Blindness, Cataract, Developmental cataract OMIM:610623
Peters Anomaly
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... ORPHA:708
Cataract 24
Anterior polar cataract OMIM:601202
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Microcoria, Congenital
Microcoria, Miosis, Hypoplasia of the iris dilator muscle OMIM:156600
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:611638
Cataract 7
Visual loss, Mildly reduced visual acuity, Developmental cataract OMIM:115660
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Congenital Primary Aphakia
Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi... ORPHA:83461
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Anterior Segment Dysgenesis 2
Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri... OMIM:610256
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Fryns Microphthalmia Syndrome
Anophthalmia, Facial cleft, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia OMIM:600776
Uveal Melanoma
Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou... ORPHA:39044
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Cataract 39, Multiple Types
Lamellar cataract, Anterior polar cataract, Developmental cataract OMIM:615188
Corneal Dystrophy, Avellino Type
Lattice corneal dystrophy, Reduced visual acuity, Visual impairment OMIM:607541
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Cerebellar dysplasia OMIM:615041
Norrie Disease
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,... OMIM:310600
Cataract 3, Multiple Types
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract OMIM:601547
Trichomegaly
Cataract OMIM:190330
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions OMIM:121820
Corneal Dystrophy, Lattice Type I
Lattice corneal dystrophy, Recurrent corneal erosions OMIM:122200
Ectopia Lentis Et Pupillae
Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe... OMIM:225200
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
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Cataract 10, Multiple Types
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract OMIM:600881
Vernal Keratoconjunctivitis
Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate... ORPHA:70476
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Reduced visual acuity, Visual impairment OMIM:616335
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Anterior Segment Dysgenesis 1
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... OMIM:107250
Cataract 9, Multiple Types
Progressive cataract, Cataract, Amblyopia, Developmental cataract, Microcornea, Microphthalmia, I... OMIM:604219
Foveal Hypoplasia 1
Hypoplasia of the fovea, Presenile cataracts OMIM:136520
Cataract 42
Cataract, Developmental cataract OMIM:115900
Hyperinsulinemic Hypoglycemia, Familial, 2
Hypoglycemia, Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia OMIM:601820
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 5, Multiple Types
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract OMIM:116800
Cataract 21, Multiple Types
Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac... OMIM:610202
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Microphthalmia, Corneal opacity ORPHA:2432
Iridocorneal Endothelial Syndrome
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... ORPHA:64734
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Facial Clefting, Oblique, 1
Microphthalmia, Tessier number 4 facial cleft, Cleft palate, Cleft upper lip OMIM:600251
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Rod-cone dystrophy, Cataract OMIM:300719
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Megalocornea
Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb... OMIM:309300
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... ORPHA:171673
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Iris cyst, Optic atrophy OMIM:620086
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... ORPHA:98973
Nathalie Syndrome
Cataract ORPHA:2663
Aniridia 1
Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia... OMIM:106210
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Foveal Hypoplasia-Presenile Cataract Syndrome
Generalized hyperpigmentation, Cataract, Optic atrophy ORPHA:2253
Galactosemia Iv
Cataract OMIM:618881
Foveal Hypoplasia 2
Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon OMIM:609218
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op... ORPHA:98957
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Cataract 6, Multiple Types
Posterior polar cataract, Choroideremia, Developmental cataract OMIM:116600
Corneal Dystrophy, Posterior Amorphous
Ectopia pupillae, Iris coloboma, Corneal dystrophy OMIM:612868
Tietz Syndrome
Hypopigmentation of hair, White eyebrow, Abnormality of skin pigmentation, Abnormal anterior cham... ORPHA:42665
Cataract 20, Multiple Types
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract OMIM:116100
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Microphthalmia, Isolated 4
Microphthalmia, Coloboma OMIM:613094
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ... OMIM:611040
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Microphthalmia, Cataract, Iris coloboma, Chorioretinal coloboma OMIM:120433
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Morquio Syndrome C
Corneal opacity OMIM:252300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom... ORPHA:231736
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth... 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
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Retinal dystrophy, Chorioretin... OMIM:251270
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Lens subluxation, Microphakia ORPHA:171844
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Microphthal... ORPHA:1473
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Nanophthalmos 4
Microphthalmia, Reduced visual acuity, Hypermetropia OMIM:615972
Galactosialidosis
Corneal opacity ORPHA:351
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Ocular anterior segment dysge... OMIM:614195
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Retinitis Pigmentosa 40
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Cataract, Attenuation of retinal blo... OMIM:613801
Cataract 30, Multiple Types
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract OMIM:116300
Isolated Arrhinia
Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ... ORPHA:1134
Microphthalmia, Isolated 6
Microcornea, Microphthalmia, High hypermetropia, Amblyopia OMIM:613517
Macular Dystrophy, Corneal
Punctate opacification of the cornea, Corneal dystrophy, Recurrent corneal erosions OMIM:217800
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Developmental cataract, Coloboma, Retinal dysplasia, Micr... ORPHA:324416
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Coats Disease
Exudative retinal detachment, Leukocoria, Retinal telangiectasia OMIM:300216
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo... OMIM:126070
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Reduced visual acuity, Visual impairment, Lattice corneal dystrophy OMIM:608471
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U... OMIM:221900
Nasal Bones, Absence Of
Short columella, Narrow naris OMIM:161480
Cataract 16, Multiple Types
Posterior polar cataract, Lenticonus, Developmental cataract OMIM:613763
Corneal Dystrophy, Posterior Polymorphous, 3
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata OMIM:609141
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Galactosemia Ii
Cataract OMIM:230200
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Conductive Deafness-Malformed External Ear Syndrome
Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme... ORPHA:3216
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia, Retinal ... OMIM:267760
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma... OMIM:614500
Stickler Syndrome Type 2
Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h... OMIM:619165
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular edema, Rod-cone dystr... OMIM:180104
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Corneal Dystrophy, Gelatinous Drop-Like
Corneal dystrophy, Reduced visual acuity, Photophobia, Visual impairment, Blurred vision OMIM:204870
Facial Spasm
Anisocoria OMIM:134300
Microphthalmia, Syndromic 13
Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma OMIM:300915
Hypoalphalipoproteinemia, Primary, 2
Corneal arcus, Cataract OMIM:618463
Atopic Keratoconjunctivitis
Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization ORPHA:163934
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Median cleft palate OMIM:619452
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Cataract, Macular atrophy, Macular coloboma, Rod-cone dy... OMIM:618220
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho... OMIM:601706
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Posterior synechiae of the anter... OMIM:602482
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula... ORPHA:54
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Cataract, Retinal atrophy, Pigmentary retinopathy, Rod-c... OMIM:613731
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcornea, Microphthalmia, Cataract ORPHA:2528
Congenital Varicella Syndrome
Microphthalmia, Cataract ORPHA:291
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Microphthalmia, Syndromic 12
Anophthalmia, Broad nasal tip, Wide nasal bridge, Neonatal death, Microphthalmia OMIM:615524
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Oculoauricular Syndrome
Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,... OMIM:612109
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... OMIM:136800
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal stromal edema, Corneal opacity, Corneal guttata OMIM:613267
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation ORPHA:2090
Cataract 47
Microcornea, Cataract OMIM:612018
Optic Atrophy 3, Autosomal Dominant
Optic disc pallor, Cataract, Optic atrophy OMIM:165300
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... ORPHA:98960
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Nephroblastoma
Aniridia ORPHA:654
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Cataract, Retinal dystrophy, Retinal pigment epithelial ... OMIM:616108
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia, High hypermetropia OMIM:251700
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ... OMIM:103500
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Weill-Marchesani Syndrome 4
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... OMIM:613195
Intestinal Botulism
Mydriasis ORPHA:178481
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract ORPHA:893
Frontonasal Dysplasia With Alar Clefts
Cleft ala nasi, Underdeveloped nasal alae OMIM:203000
Leber Congenital Amaurosis 2
Keratoconus, Optic disc pallor, Cataract, Fundus atrophy, Absent foveal reflex, Pigmentary retino... OMIM:204100
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ... OMIM:212550
Congenital Microcoria
Abnormal pupillary light reflex, Developmental cataract, Corneal stromal edema, Iris transillumin... ORPHA:566
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Facial cleft, Cleft palate, Bilateral cleft li... ORPHA:1104
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Microphthalmia, Myopia, Visual impairment ORPHA:1574
Bardet-Biedl Syndrome 18
Rod-cone dystrophy, Cataract, Retinal dystrophy OMIM:615995
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation ORPHA:3214
Wagner Vitreoretinopathy
Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Optic atrophy, Chorioreti... OMIM:143200
Leber Congenital Amaurosis 16
Cataract, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual impairment OMIM:614186
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis ORPHA:1259
Fuchs Heterochromic Iridocyclitis
Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti... ORPHA:263479
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Xeroderma Pigmentosum, Complementation Group G
Microphthalmia, Cataract OMIM:278780
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Optic disc drusen, Perifoveal ring o... OMIM:600059
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy OMIM:616410
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Cataract, Abnormality of retinal pigmentation ORPHA:35737
Leber Congenital Amaurosis 8
Keratoconus, Cataract, Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:613835
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Axenfeld-Rieger Syndrome, Type 1
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... OMIM:180500
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic... ORPHA:139471
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor OMIM:619649
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Iridodonesis, Myopia, Ectopia lentis, Deep anterior chamber, Microspherophakia, Hypermetropia, Bu... OMIM:251750
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal dystrophy, Corneal guttata OMIM:610158
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment OMIM:164100
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Optic nerve dysplasia, Developmental cataract OMIM:246000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Microphthalmia, Retinop... OMIM:616171
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Developmental cataract ORPHA:2572
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ... OMIM:278730
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia OMIM:194072
Hec Syndrome
Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract ORPHA:2119
Rhiny
Short nose, Anteverted nares OMIM:180360
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ... OMIM:203200
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Lattice Corneal Dystrophy Type I
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... ORPHA:98964
Nathalie Syndrome
Cataract OMIM:255990
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Isolated Ectopia Lentis
Ectopia pupillae, Cataract, Ectopia lentis ORPHA:1885
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Microphthalmia, Cataract, Retinal coloboma, Rod-cone dystrophy OMIM:601794
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ... OMIM:305390
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Microphthalmia, Cataract, Retinal coloboma, Rod-cone dystrophy ORPHA:363741
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Distal Deletion 6P
Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio... ORPHA:96125
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Microphthalmia, Cataract, Corneal opacity ORPHA:290
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog... ORPHA:891
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Hypopla... OMIM:611584
Intermediate Uveitis
Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate... ORPHA:279914
Chylous Ascites
Neoplasm, Abnormal intestine morphology, Pancreatitis ORPHA:1160
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Iatrogenic Botulism
Mydriasis ORPHA:254509
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Hypomyelination-Congenital Cataract Syndrome
Abnormal cerebellum morphology, Developmental cataract ORPHA:85163
Corneal Dystrophy, Congenital Stromal
Band-shaped corneal dystrophy, Corneal erosion, Increased corneal thickness, Corneal dystrophy OMIM:610048
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Bietti Crystalline Dystrophy
Blindness, Constriction of peripheral visual field, Large central visual field defect, Central sc... ORPHA:41751
Wound Botulism
Mydriasis ORPHA:178475
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Pierson Syndrome
Retinal vascular tortuosity, Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the cili... OMIM:609049
Optic Atrophy 9
Red-green dyschromatopsia, Paracentral scotoma, Reduced visual acuity, Visual impairment OMIM:616289
Phacoanaphylactic Uveitis
Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate... ORPHA:209959
Orofacial Cleft 11
Cleft lip, Cleft palate OMIM:600625
3Q29 Microduplication Syndrome
Cataract, Sclerocornea, Aniridia, Microphthalmia, Iris coloboma ORPHA:251038
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Amblyopia, Scintillating scotoma, Reduced visual acuity ORPHA:97341
Leber Congenital Amaurosis 11
Reduced visual acuity, Visual impairment OMIM:613837
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormally prominent line of Schwalbe OMIM:109120
Proximal Myotonic Myopathy
Cataract ORPHA:606
Oculopalatocerebral Syndrome
Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria OMIM:257910
Short Syndrome
Posterior embryotoxon, Corneal opacity, Abnormal pupil morphology, Hypoplasia of the iris, Megalo... ORPHA:3163
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation ORPHA:99000
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret... OMIM:193230
Glaucoma 3, Primary Congenital, E
Corneal stromal edema, Megalocornea OMIM:617272
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Retinal v... ORPHA:94058
Retinitis Pigmentosa 35
Blindness, Reduced visual acuity, Nyctalopia OMIM:610282
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Shallow anterior chamber, Falciform retinal fold, Retinal exudate, T... OMIM:613310
Winchester Syndrome
Corneal opacity OMIM:277950
Spondylo-Ocular Syndrome
Retinal detachment, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low po... ORPHA:85194
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral microphthalmos, Facial cl... OMIM:607597
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy, Astigmatism OMIM:268060
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne... OMIM:613270
Macular Dystrophy, Vitelliform, 5
Central scotoma, Reduced visual acuity, Moderately reduced visual acuity OMIM:616152
Leber Congenital Amaurosis
Keratoconus, Abnormality of retinal pigmentation, Abnormal optic disc morphology, Cataract ORPHA:65
Corneal Endothelial Dystrophy
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... OMIM:217700
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Corneal Dystrophy, Reis-Bucklers Type
Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma OMIM:608470
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo... ORPHA:179
Dysequilibrium Syndrome
Cataract ORPHA:1766
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Inhalational Botulism
Mydriasis ORPHA:254504
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Microphthalmia, Isolated 8
Retinal detachment, Anophthalmia, Optic nerve hypoplasia, Hypoplastic optic chiasm, Retinal colob... OMIM:615113
Herpes Simplex Virus Stromal Keratitis
Blindness, Keratitis, Deep anterior chamber, Reduced visual acuity, Herpetiform corneal ulceratio... ORPHA:137599
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Cataract, Vitreous floaters, Lattice retinal degeneration, Lens subluxation, ... OMIM:614292
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Optic atrophy, Premature graying of hair... ORPHA:33445
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor... ORPHA:67043
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology ORPHA:782
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Coxoauricular Syndrome
Microtia, Hearing impairment OMIM:122780
Waardenburg Syndrome, Type 1
Thick eyebrow, White eyelashes, Partial albinism, White eyebrow, Spina bifida, Synophrys, Myelome... OMIM:193500
Cerebrooculonasal Syndrome
Anophthalmia, Facial cleft, High palate, Widely spaced teeth, Solitary median maxillary central i... ORPHA:66625
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Bornholm Eye Disease
Abnormality of retinal pigmentation, Astigmatism, Optic nerve hypoplasia OMIM:300843
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Cataract 1, Multiple Types
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract OMIM:116200
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At... OMIM:612572
Frontonasal Dysplasia 3
Microphthalmia, Facial cleft, Cleft palate OMIM:613456
Ă…land Islands Eye Disease
Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ... ORPHA:178333
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an... ORPHA:91495
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus OMIM:606574
Abruzzo-Erickson Syndrome
Coloboma, Macrotia, Hearing impairment, Protruding ear OMIM:302905
Myopia 17, Autosomal Dominant
Retinal hole, Presenile cataracts OMIM:608367
N Syndrome
Megalocornea ORPHA:2608
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Chudley-Mccullough Syndrome
Hydrocephalus, Cerebellar hypoplasia, Cerebellar dysplasia OMIM:604213
Gracile Bone Dysplasia
Aniridia, Microphthalmia, Hydrocephalus, Death in infancy OMIM:602361
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Optic disc drusen, Pigmentary retinopathy, Attenuation of ... OMIM:204000
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness, Developmental cataract OMIM:607674
Cofs Syndrome
Optic atrophy, Microphthalmia, Cataract, Abnormality of retinal pigmentation ORPHA:1466
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Aplasia/Hypoplasia of the lens, Cataract ORPHA:1381
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Convex nasal ridge, Cleft ala nasi, Wide nasal bridge, Underdeveloped nasal alae ORPHA:2007
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Abnormal pupil mor... ORPHA:233
Oliver-Mcfarlane Syndrome
Central heterochromia, Peripheral axonal neuropathy, Long eyebrows, Pigmentary retinopathy, Long ... OMIM:275400
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
2Q24 Microdeletion Syndrome
Microphthalmia, Cataract, Abnormality iris morphology, Coloboma ORPHA:1617
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Retinal Cone Dystrophy 3B
Myopia, Scotoma, Nyctalopia, Reduced visual acuity, Photophobia, Astigmatism OMIM:610356
Retinitis Pigmentosa 2
Cataract, Bull's eye maculopathy, Chorioretinal degeneration, Fundus atrophy, Pigmentary retinopa... OMIM:312600
Gombo Syndrome
Microphthalmia OMIM:233270
Sveinsson Chorioretinal Atrophy
Peripapillary chorioretinal atrophy, Astigmatism OMIM:108985
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia, Iris coloboma ORPHA:139450
Leber Congenital Amaurosis 4
Keratoconus, Blindness, Reduced visual acuity, Nyctalopia OMIM:604393
Cataract 17, Multiple Types
Amblyopia, Reduced visual acuity, Pulverulent cataract, Developmental cataract, Microcornea, Nucl... OMIM:611544
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Usher Syndrome Type 3
Cataract, Scotoma, Visual loss, Nyctalopia, Astigmatism, Hemianopia, High hypermetropia, Iris hyp... ORPHA:231183
Megalocornea-Intellectual Disability Syndrome
Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho... ORPHA:2479
Chondrodysplasia-Difference Of Sex Development Syndrome
Hypoplasia of the iris, Miosis, Chorioretinal coloboma ORPHA:1422
Wagro Syndrome
Aniridia, Cataract, Corneal opacity OMIM:612469
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Botulism
Mydriasis ORPHA:1267
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Intellectual Developmental Disorder, Autosomal Recessive 67
Coloboma, Sensorineural hearing impairment, Posteriorly rotated ears OMIM:618295
Microphthalmia, Syndromic 5
Cataract, Anophthalmia, Optic nerve hypoplasia, Retinal dystrophy, Microcornea, Microphthalmia OMIM:610125
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal... OMIM:152950
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Scotoma, Visual impairment, Color vision defect OMIM:607476
Central Retinal Vein Occlusion
Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha... ORPHA:411527
Cutis Marmorata Telangiectatica Congenita
Retinal detachment, Leukocoria OMIM:219250
Vitreoretinochoroidopathy
Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M... OMIM:193220
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea OMIM:613001
Nystagmus 1, Congenital, X-Linked
Mildly reduced visual acuity, Reduced visual acuity OMIM:310700
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Bilateral cleft palate, Bilateral cleft lip, Cleft upper lip, Facial cleft, Anterior encephalocele OMIM:601357
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Cataract, Retinal dystrophy ORPHA:3156
Corneal Dystrophy, Thiel-Behnke Type
Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy OMIM:602082
Leber Congenital Amaurosis 9
Keratoconus, Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macula... OMIM:608553
Keratoconus 1
Keratoconus, Astigmatism OMIM:148300
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Uveitis, Corneal neovascularization, Punctate keratitis OMIM:617388
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Narrow palpebral fissure, Microp... OMIM:615145
Epithelial Recurrent Erosion Dystrophy
Corneal erosion OMIM:122400
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Foodborne Botulism
Mydriasis ORPHA:228371
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma OMIM:615147
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom... OMIM:120200
Insulinomatosis And Diabetes Mellitus
Impaired glucose tolerance, Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes ... OMIM:147630
Hyperparathyroidism 2 With Jaw Tumors
Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel... OMIM:145001
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy, Coloboma OMIM:274270
Oculomaxillofacial Dysostosis
Median cleft lip, Abnormality of the dentition, Facial cleft, Cleft palate, Aplasia/Hypoplasia af... ORPHA:1794
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, High myopia, Ectopia lentis OMIM:614819
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Congenital Hereditary Endothelial Dystrophy Type Ii
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... ORPHA:293603
Cataract 19, Multiple Types
Cortical pulverulent cataract, Amblyopia OMIM:615277
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Myopia 23, Autosomal Recessive
Increased axial length of the globe, Reduced visual acuity, Visual impairment, High myopia OMIM:615431
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced visual acuity OMIM:601553
Keratoendotheliitis Fugax Hereditaria
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Geographic at... OMIM:180105
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Anophthalmia, Corneal dystrophy, Abnormal vitreous humor morphology, Abnormal optic nerve morphol... ORPHA:1101
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Blepharoptosis, Myopia, And Ectopia Lentis
Myopia, Increased axial length of the globe, Ectopia lentis OMIM:110150
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, Vi... ORPHA:280921
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis... ORPHA:79433
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A... ORPHA:364055
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Leukoencephalopathy With Vanishing White Matter 2
Cataract, Optic atrophy OMIM:620312
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Late-Onset Retinal Degeneration
Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus... ORPHA:67042
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment, Cataract, Corneal opacity, Hydrocephalus, Low anterior hairline, Coloboma, De... OMIM:613153
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Posterior subcapsular cataract, Rod-con... OMIM:617304
Donnai-Barrow Syndrome
Retinal detachment, Cataract, Retinal dystrophy, Hypoplasia of the iris, Iris coloboma OMIM:222448
Neuhauser Syndrome
Hypoplasia of the iris, Iridodonesis, Megalocornea OMIM:249310
Retinitis Pigmentosa 78
Reduced visual acuity, Nyctalopia, Photopsia, Visual field defect OMIM:617433
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment OMIM:610189
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Blind-spot enlargment, Cerulean cataract, Central scotoma, Reduced visual acuity, Photophobia, Co... OMIM:616732
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Achromatopsia 3
Cataract, Moderately reduced visual acuity, Monochromacy, High myopia, Photophobia, Dyschromatops... OMIM:262300
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... ORPHA:98963
Fuchs Endothelial Corneal Dystrophy
Corneal opacity, Visual loss, Abnormal Descemet membrane morphology, Nyctalopia, Abnormal corneal... ORPHA:98974
Alexander Disease
Microcoria OMIM:203450
Retinal Dystrophy And Obesity
Retinal detachment, Retinal pigment epithelial atrophy, Retinal dystrophy, Astigmatism, Retinal d... OMIM:616188
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Albinism OMIM:606952
Microphthalmia, Syndromic 8
Microcornea, Microphthalmia OMIM:601349
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Macular dystro... ORPHA:59181
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori... OMIM:602772
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Vitreous floaters, Posterior subcapsular cataract, Aster... OMIM:618173
Vogt-Koyanagi-Harada Disease
Retinal detachment, Abnormal eyebrow morphology, Cataract, Sparse scalp hair, Poliosis, Abnormal ... ORPHA:3437
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Hypertrophic cardiomyopathy, Cataract, Corneal dystrophy OR