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Gene: Pax6 MGI:97490

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Gene Summary

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

Order Alleles

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
anophthalmia Pax6em1(IMPC)Mbp HOM E15.5 0.00
abnormal placenta morphology Pax6em1(IMPC)Mbp HET E15.5 0.00
small liver Pax6em1(IMPC)Mbp HET Early adult 0.00
cleft palate Pax6em1(IMPC)Mbp HOM E15.5 0.00
anophthalmia Pax6em1(IMPC)Mbp HET Early adult 0.00
increased monocyte cell number Pax6em1(IMPC)Mbp HET Early adult 2.21×10-05
preweaning lethality, complete penetrance Pax6em1(IMPC)Mbp HOM   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
corneal vascularization Pax6em1(IMPC)Mbp HET Early adult 2.19×10-07
abnormal liver morphology Pax6em1(IMPC)Mbp HET Early adult 0.00
abnormal brain morphology Pax6em1(IMPC)Mbp HET Early adult 0.00
hyperactivity Pax6em1(IMPC)Mbp HET   Early adult 1.63×10-05
microphthalmia Pax6em1(IMPC)Mbp HET E15.5 0.00
abnormal craniofacial morphology Pax6em1(IMPC)Mbp HOM E15.5 0.00
microphthalmia Pax6em1(IMPC)Mbp HET Early adult 0.00
abnormal placenta morphology Pax6em1(IMPC)Mbp HOM E15.5 0.00
corneal opacity Pax6em1(IMPC)Mbp HET Early adult 1.80×10-08

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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.

Gross Morphology Embryo E14.5-E15.5

Images

26 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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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, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Autosomal Dominant Keratitis
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... ORPHA:2334
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... ORPHA:137902
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... OMIM:106210
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation, 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, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Optic nerve aplasia, 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
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Microphthalmia, Isolated, With Coloboma 4
Coloboma, Microphthalmia, Microcornea OMIM:251505
Microphthalmia, Isolated, With Coloboma 7
Coloboma, Microphthalmia OMIM:614497
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Optic pit, Anophthalmia, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:616428
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Aniridia 2
Optic atrophy, Lens subluxation, Cataract, Iris coloboma, Aniridia OMIM:617141
Coats Disease
Abnormal macular morphology, Aplasia/Hypoplasia of the iris, Cataract, Retinal detachment, Abnorm... ORPHA:190
Anterior Segment Dysgenesis 8
Optic nerve dysplasia, Iris transillumination defect, Persistent pupillary membrane, Hypoplasia o... OMIM:617319
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Aniridia-Intellectual Disability Syndrome
Cataract, Optic nerve hypoplasia, Aniridia, Ectopia lentis ORPHA:1068
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
Isolated Aniridia
Cataract, Peters anomaly, Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Cataract 44
Developmental cataract OMIM:616509
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Autosomal Dominant Keratitis
Coloboma, Macular hypoplasia, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Co... ORPHA:2334
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Microphthalmia, Isolated, With Coloboma 3
Iris coloboma, Microphthalmia, Cataract OMIM:610092
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Microcornea, Glaucoma, And Absent Frontal Sinuses
Microcornea OMIM:156700
Cornea Guttata With Anterior Polar Cataracts
Anterior polar cataract OMIM:121390
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Bilateral Acute Depigmentation Of The Iris
Abnormal iris pigmentation, Pigment deposition in the trabecular meshwork, Iris pigment dispersio... ORPHA:69736
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Anterior Segment Dysgenesis 4
Hypoplastic iris stroma, Iris hypopigmentation OMIM:137600
Aniridia 3
Cataract OMIM:617142
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Dermoids Of Cornea
Corneal opacity OMIM:304730
Aniridia And Absent Patella
Cataract, Aniridia OMIM:106220
Edict Syndrome
Hypoplasia of the iris, Microcornea, Astigmatism, Anterior polar cataract, Keratoconus OMIM:614303
Cataract 11, Multiple Types
Cataract, Blindness, Microphthalmia, Developmental cataract OMIM:610623
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Cataract 24
Anterior polar cataract OMIM:601202
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle, Miosis OMIM:156600
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:611638
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Cataract 7
Visual loss, Mildly reduced visual acuity, Developmental cataract OMIM:115660
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane ORPHA:1067
Congenital Primary Aphakia
Congenital aphakia, Retinal dysplasia, Microphthalmia, Aplasia/Hypoplasia affecting the anterior ... ORPHA:83461
Dermochondrocorneal Dystrophy
Corneal dystrophy ORPHA:79149
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Anterior Segment Dysgenesis 2
Coloboma, Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters an... OMIM:610256
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Cataract 32, Multiple Types
Anterior polar cataract OMIM:115650
Fryns Microphthalmia Syndrome
Anophthalmia, Facial cleft, Neural tube defect, Microphthalmia, Bilateral cleft lip and palate OMIM:600776
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Abnormal fundus morphology, Cili... ORPHA:39044
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Cataract 39, Multiple Types
Anterior polar cataract, Lamellar cataract, Developmental cataract OMIM:615188
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Corneal Dystrophy, Avellino Type
Reduced visual acuity, Lattice corneal dystrophy, 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
Cataract 3, Multiple Types
Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract, Developmental cataract OMIM:601547
Cataract 12, Multiple Types
Progressive cataract, Developmental cataract OMIM:611597
Trichomegaly
Cataract OMIM:190330
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Retinal detachment, Pe... OMIM:225200
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Developmental glaucoma, Aniridia OMIM:206750
Norrie Disease
Retinal fold, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior ch... OMIM:310600
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
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
Posterior Y-sutural cataract, Nuclear cataract, Zonular cataract, Developmental cataract OMIM:600881
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... ORPHA:70476
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Microphthalmia, Visual impairment OMIM:616335
Microphthalmia, Syndromic 16
Microphthalmia, Anophthalmia, Sclerocornea OMIM:611038
Foveal Hypoplasia 1
Presenile cataracts, Hypoplasia of the fovea OMIM:136520
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Cataract 42
Cataract, Developmental cataract OMIM:115900
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Cataract 9, Multiple Types
Amblyopia, Developmental cataract, Microcornea, Cataract, Iris coloboma, Microphthalmia, Visual i... OMIM:604219
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia, Coloboma OMIM:613703
Hyperinsulinemic Hypoglycemia, Familial, 2
Nesidioblastosis, Hypoglycemia, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:601820
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Cataract 5, Multiple Types
Lamellar cataract, Zonular cataract, Pulverulent cataract, Anterior polar cataract, Nuclear cataract OMIM:116800
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Cataract 21, Multiple Types
Cortical pulverulent cataract, Macular hypoplasia, Cerulean cataract, Microcornea, Iris coloboma,... OMIM:610202
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Corneal opacity, Microcornea ORPHA:2432
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Optic disc hypoplasia, Unilateral microphthalm... ORPHA:137902
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Aniridia-Absent Patella Syndrome
Cataract, Aniridia 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
Cleft palate, Cleft upper lip, Tessier number 4 facial cleft, Microphthalmia OMIM:600251
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract, Rod-cone dystrophy OMIM:300719
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, Deep anterior chamber, Ectopia lentis, Hypermetropia, Myopia, Microspherophakia, Ir... OMIM:251750
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Megalocornea
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Corneal scarrin... ORPHA:171673
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Cataract, Chorioretinal coloboma OMIM:274205
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Iris cyst, Hypoplasia of the fovea, Optic atrophy OMIM:620086
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy
Juvenile cataract OMIM:212500
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Nathalie Syndrome
Cataract ORPHA:2663
Aniridia 1
Corneal erosion, Hypoplasia of the iris, Retinal vascular tortuosity, Corneal neovascularization,... OMIM:106210
Glaucoma, Primary Closed-Angle
Anterior synechiae of the anterior chamber OMIM:618880
Galactosemia Iv
Cataract OMIM:618881
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract, Generalized hyperpigmentation, Optic atrophy ORPHA:2253
Foveal Hypoplasia 2
Posterior embryotoxon, Axenfeld anomaly, Astigmatism, Hypoplasia of the fovea, Microphthalmia OMIM:609218
X-Linked Retinoschisis
Retinoschisis, Cataract ORPHA:792
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Tietz Syndrome
Hypopigmentation of the skin, Abnormality of skin pigmentation, White eyebrow, Hypopigmentation o... ORPHA:42665
Cataract 20, Multiple Types
Cortical cataract, Sutural cataract, Lamellar cataract, Membranous cataract OMIM:116100
Microphthalmia, Isolated 4
Coloboma, Microphthalmia OMIM:613094
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Microphthalmia, Isolated 5
Retinal pigment epithelial atrophy, Optic disc drusen, Foveoschisis, Bone spicule pigmentation of... OMIM:611040
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Morquio Syndrome C
Corneal opacity OMIM:252300
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:120433
Spinocerebellar Ataxia Type 41
Cerebellar vermis atrophy ORPHA:458798
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Microphthalmia, Decreased corneal thickness, Flat cornea, Scleroc... OMIM:217300
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma, Microp... ORPHA:231736
Uncombable Hair Syndrome 2
Juvenile cataract OMIM:617251
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Abnormality of skin pigmentation, Retinal dystrophy, Abnormality of retinal pigment... OMIM:251270
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Cataract, Retinal detachment, Microphakia ORPHA:171844
Isolated Arrhinia
Underdeveloped nasal alae, Aplasia of the nose, Absent nasal septal cartilage, Midline defect of ... ORPHA:1134
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Cataract, Iris coloboma, Microphthalmia, Corneal opacity, C... ORPHA:1473
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Nanophthalmos 4
Hypermetropia, Reduced visual acuity, Microphthalmia OMIM:615972
Galactosialidosis
Corneal opacity ORPHA:351
Retinitis Pigmentosa 40
Cataract, Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blo... OMIM:613801
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Ocular anterior segment dysgenesis, Hypoplasia of the iris, Anterior synechiae of the anterior ch... OMIM:614195
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Microphthalmia, Isolated 6
High hypermetropia, Amblyopia, Microphthalmia, Microcornea OMIM:613517
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract OMIM:616722
Woolly Hair
Abnormal pupil morphology, Cataract, Abnormal retinal morphology ORPHA:170
Coats Disease
Leukocoria, Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Hydrocephalus, Developmental cataract, Retinal dysp... ORPHA:324416
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypopigmentation o... OMIM:126070
Corneal Dystrophy, Lattice Type Iiia
Reduced visual acuity, Lattice corneal dystrophy, Corneal erosion, Visual impairment OMIM:608471
Nanophthalmos
Microphthalmia, Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buph... OMIM:221900
Nasal Bones, Absence Of
Short columella, Narrow naris OMIM:161480
Cataract 16, Multiple Types
Lenticonus, Posterior polar cataract, Developmental cataract OMIM:613763
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome
Iris hypopigmentation ORPHA:85332
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia OMIM:610023
Anencephaly 2
Anophthalmia, Cleft maxillary alveolar ridge, Anencephaly, Median cleft lip, Median cleft palate OMIM:619452
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Conductive Deafness-Malformed External Ear Syndrome
Conductive hearing impairment, Sensorineural hearing impairment, Hypogonadism, Microtia, Abnormal... ORPHA:3216
Blue Cone Monochromatism
Corneal dystrophy, Abnormality of retinal pigmentation ORPHA:16
Galactosemia Ii
Cataract OMIM:230200
Iris Pigment Layer, Cleavage Of
Cataract, Peripheral retinal detachment OMIM:147610
Cataract 40
Sutural cataract, Nuclear cataract OMIM:302200
Gillespie Syndrome
Hypoplasia of the iris, Aniridia OMIM:206700
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Corneal Dystrophy, Fleck
Speckled corneal dystrophy OMIM:121850
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule pigmentation of the re... OMIM:614500
Oculocutaneous Albinism, Type Viii
Hypopigmentation of the skin, Iris transillumination defect, Hypopigmentation of hair, Hypoplasia... OMIM:619165
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Retinal degeneration, Macular atrophy, Shallow anterior chamber, Microphthalmia, Cystoid macular ... OMIM:267760
Stickler Syndrome Type 2
Retinopathy, Cataract, Corneal opacity, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Corneal Dystrophy, Gelatinous Drop-Like
Reduced visual acuity, Blurred vision, Visual impairment, Corneal dystrophy, Photophobia OMIM:204870
Microphthalmia, Syndromic 13
Iris coloboma, Microphthalmia, Chorioretinal coloboma, Microcornea OMIM:300915
Retinitis Pigmentosa 9
Rod-cone dystrophy, Macular edema, Macular atrophy, Bone spicule pigmentation of the retina, Cata... OMIM:180104
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Cataract, Developmental cataract OMIM:613076
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Atopic Keratoconjunctivitis
Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opacity, Chemosis, Keratitis ORPHA:163934
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Abnormal macular morphology, Ocular albinism, Iris hypopigmentation, A... ORPHA:54
Retinitis Pigmentosa 84
Rod-cone dystrophy, Macular atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:618220
Yemenite Deaf-Blind Hypopigmentation Syndrome
Patchy hypo- and hyperpigmentation, Numerous pigmented freckles, Microcornea, White forelock, Iri... OMIM:601706
Congenital Varicella Syndrome
Cataract, Microphthalmia ORPHA:291
Retinitis Pigmentosa 4
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:613731
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microphthalmia, Microcornea ORPHA:2528
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Facial Spasm
Anisocoria OMIM:134300
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Posterior embryotoxon, Ectop... OMIM:602482
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Spina bifida occulta, Iris coloboma, Phthisis bulbi, Microphakia, Rod-co... OMIM:612109
Microphthalmia, Syndromic 12
Retrognathia, Anophthalmia, Wide nasal bridge, Micrognathia, Broad nasal tip, Microphthalmia OMIM:615524
Neutropenia, Severe Congenital, 9, Autosomal Dominant
Cataract OMIM:619813
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Cataract 47
Cataract, Microcornea OMIM:612018
Gms Syndrome
Rieger anomaly, Tricuspid regurgitation ORPHA:2090
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Corneal opacity, Aniridia ORPHA:1064
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Glaucoma 1, Open Angle, A
Abnormal iris vasculature OMIM:137750
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... ORPHA:98960
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma, Microcornea OMIM:602499
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Nephroblastoma
Aniridia ORPHA:654
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Retinal dystrophy, Bone spicule pigmentat... OMIM:616108
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Leber Congenital Amaurosis 2
Optic disc pallor, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204100
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Hypopigmentation of the fundus, Het... OMIM:103500
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Microphthalmia OMIM:251700
Wagr Syndrome
Aplasia/Hypoplasia of the iris, Cataract ORPHA:893
Intestinal Botulism
Mydriasis ORPHA:178481
Weill-Marchesani Syndrome 4
Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb... OMIM:613195
Frontonasal Dysplasia With Alar Clefts
Underdeveloped nasal alae, Cleft ala nasi OMIM:203000
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Congenital Microcoria
Megalocornea, Iris transillumination defect, Iris hypopigmentation, Corneal stromal edema, Develo... ORPHA:566
Anophthalmia Plus Syndrome
Non-midline cleft lip, Anophthalmia, Facial cleft, Spina bifida, Cleft palate, Bilateral cleft li... ORPHA:1104
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Posterior vitreous detachment, Cataract, Chorioretinal atrophy, Reti... OMIM:616468
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Corneal scarring, Retinal dystrophy, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Micro... OMIM:212550
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Myopia, Microphthalmia, Visual impairment ORPHA:1574
Bardet-Biedl Syndrome 18
Retinal dystrophy, Cataract, Rod-cone dystrophy OMIM:615995
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Iris coloboma, Anterior synechiae of the anterior chamber, Microcornea ORPHA:3214
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation, Ectopia lentis, Ptosis, Iris coloboma, Palpebral edema ORPHA:1259
Leber Congenital Amaurosis 16
Visual field defect, Photophobia, Cataract, Visual impairment, Reduced visual acuity, Nyctalopia OMIM:614186
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Wagner Vitreoretinopathy
Retinal pigment epithelial atrophy, Exudative vitreoretinopathy, Optic atrophy, Vitreoretinopathy... OMIM:143200
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Retinitis Pigmentosa 13
Rod-cone dystrophy, Optic disc drusen, Asteroid hyalosis, Retinal degeneration, Bone spicule pigm... OMIM:600059
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Chorioretinal atrophy, Keratoconus, Macular coloboma, Pigment... OMIM:613835
Spinocerebellar Ataxia 41
Cerebellar atrophy, Cerebellar vermis atrophy OMIM:616410
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Retinal dystrophy, Microcornea, Iris coloboma, Cataract, Microphthalmia, Chorioreti... ORPHA:139471
Morning Glory Disc Anomaly
Retinal detachment, Cataract, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Leg, Absence Deformity Of, With Congenital Cataract
Optic nerve dysplasia, Progressive cataract, Developmental cataract OMIM:246000
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Mildly reduced visual acuity, Visual impairment OMIM:164100
Chromosome 16Q12 Duplication Syndrome
Anisocoria, Cataract, Temporal optic disc pallor, Retinal pigment epithelial mottling OMIM:619649
Spastic Ataxia-Corneal Dystrophy Syndrome
Corneal dystrophy, Developmental cataract ORPHA:2572
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Abnormal retinal vascular morphology ORPHA:2119
Xeroderma Pigmentosum, Complementation Group D
Conjunctivitis, Telangiectasia, Keratoconjunctivitis sicca, Corneal neovascularization, Cataract,... OMIM:278730
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia OMIM:194072
Rhiny
Anteverted nares, Short nose OMIM:180360
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal iris pigmentation, Abnormal foveal morphology on macul... ORPHA:370097
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Retinopathy, Optic atrophy, Macular atrophy, Microcornea, Cataract, Microphthalmia, Optic disc pa... OMIM:616171
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome
Cataract, Rod-cone dystrophy, Microphthalmia, Retinal coloboma OMIM:601794
Nathalie Syndrome
Cataract OMIM:255990
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of the fu... OMIM:203200
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Intraretinal exudate, Retinal fold, Falciform retinal fold, Retinal ... OMIM:305390
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Rod-cone dystrophy, Microphthalmia, Retinal coloboma ORPHA:363741
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Cataract, Microphthalmia, Corneal opacity ORPHA:290
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Familial Exudative Vitreoretinopathy
Macular exudate, Vitreous hemorrhage, Tractional retinal detachment, Macular edema, Falciform ret... ORPHA:891
Iatrogenic Botulism
Mydriasis ORPHA:254509
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Wound Botulism
Mydriasis ORPHA:178475
Chylous Ascites
Abnormal intestine morphology, Neoplasm, Pancreatitis ORPHA:1160
Corneal Dystrophy, Congenital Stromal
Increased corneal thickness, Band-shaped corneal dystrophy, Corneal erosion, Corneal dystrophy OMIM:610048
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Hypomyelination-Congenital Cataract Syndrome
Abnormal cerebellum morphology, Developmental cataract ORPHA:85163
Intermediate Uveitis
Macular edema, Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Epi... ORPHA:279914
Distal Monosomy 6P
Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior chamber, Cornea... ORPHA:96125
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Bietti Crystalline Dystrophy
Blindness, Large central visual field defect, Central scotoma, Paracentral scotoma, Crystalline c... ORPHA:41751
Optic Atrophy 9
Reduced visual acuity, Red-green dyschromatopsia, Visual impairment, Paracentral scotoma OMIM:616289
Persistent Placoid Maculopathy
Amblyopia, Hypoplasia of the fovea, Metamorphopsia, Scintillating scotoma, Reduced visual acuity ORPHA:97341
Pierson Syndrome
Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Macular hypoplasi... OMIM:609049
Orofacial Cleft 11
Cleft palate, Cleft lip OMIM:600625
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Adult-Onset Foveomacular Vitelliform Dystrophy
Iris hypopigmentation, Retinal nonattachment, Vitelliform-like macular lesions, Choroideremia ORPHA:99000
Leber Congenital Amaurosis 11
Reduced visual acuity, Visual impairment OMIM:613837
3Q29 Microduplication Syndrome
Aniridia, Iris coloboma, Cataract, Microphthalmia, Sclerocornea ORPHA:251038
Short Syndrome
Abnormal pupil morphology, Megalocornea, Posterior embryotoxon, Hypoplasia of the iris, Corneal o... ORPHA:3163
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
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
Proximal Myotonic Myopathy
Cataract ORPHA:606
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Waardenburg Syndrome, Type 2E
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, Hypoplasia of the iris, Iris hypop... OMIM:611584
Winchester Syndrome
Corneal opacity OMIM:277950
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Snowflake vitreoretinal degeneration, Cataract, Optically empty vi... OMIM:193230
Leber Congenital Amaurosis
Cataract, Keratoconus, Abnormal optic disc morphology, Abnormality of retinal pigmentation ORPHA:65
Phacoanaphylactic Uveitis
Retinal arteritis, Vitreoretinopathy, Cystoid macular edema, Abnormal vitreous humor morphology, ... ORPHA:209959
Glaucoma 3, Primary Congenital, E
Megalocornea, Corneal stromal edema OMIM:617272
Spondylo-Ocular Syndrome
Abnormal eyebrow morphology, Iris hypopigmentation, Cataract, Microphthalmia, Low posterior hairl... ORPHA:85194
Neovascular Glaucoma
Iris neovascularization, Retinal vascular proliferation, Corneal stromal edema, Retinal detachmen... ORPHA:94058
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Ethmoidal encephalocele, Cleft upper lip, Facial cleft, Optic nerve hypoplasia, Bilateral microph... OMIM:607597
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Reduced visual acuity, Central scotoma OMIM:616152
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Retinal exuda... OMIM:613310
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy OMIM:268060
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Cataract, Microcornea OMIM:619082
Griscelli Syndrome Type 3
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Inhalational Botulism
Mydriasis ORPHA:254504
Birdshot Chorioretinopathy
Retinal thinning, Abnormal choroid morphology, Vitritis, Vitreous floaters, Choroidal neovascular... ORPHA:179
Dysequilibrium Syndrome
Cataract ORPHA:1766
Hyperinsulinemic Hypoglycemia, Familial, 3
Diabetes mellitus, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:602485
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Herpes Simplex Virus Stromal Keratitis
Herpetiform corneal ulceration, Blindness, Descemet Membrane Folds, Corneal stromal edema, Deep a... ORPHA:137599
Woolly Hair Nevus
Heterochromia iridis, Persistent pupillary membrane ORPHA:79414
Coxoauricular Syndrome
Hearing impairment, Microtia OMIM:122780
Microphthalmia, Isolated 8
Anophthalmia, Hypoplastic optic chiasm, Optic nerve hypoplasia, True anophthalmia, Microphthalmia... OMIM:615113
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Myopia, High, With Cataract And Vitreoretinal Degeneration
Lattice retinal degeneration, Peripheral vitreoretinal degeneration, Vitreous floaters, Lens subl... OMIM:614292
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Premature graying of hair, Optic atrophy, Aplasia/Hypoplasia of the... ORPHA:33445
Premature Ovarian Failure 12
Macular dystrophy, Microphthalmia OMIM:616947
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Axenfeld-Rieger Syndrome
Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology, Posterior embryotoxon ORPHA:782
Cerebrooculonasal Syndrome
High palate, Anophthalmia, Facial cleft, Widely spaced teeth, Long philtrum, Microdontia, Solitar... ORPHA:66625
Retinitis Pigmentosa 46
Rod-cone dystrophy, Attenuation of retinal blood vessels, Posterior subcapsular cataract, Optic d... OMIM:612572
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Retinitis Pigmentosa 86
Retinal pigment epithelial atrophy, Bone spicule pigmentation of the retina, Attenuation of retin... OMIM:618613
Bornholm Eye Disease
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Waardenburg Syndrome, Type 1
Myelomeningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyeb... OMIM:193500
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Leukocoria, Macular hypoplasia, Hyaloid vascular rem... ORPHA:91495
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Cataract, Fundus atrophy, Keratoconus, P... OMIM:204000
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Åland Islands Eye Disease
Astigmatism, Hypoplasia of the fovea, Color vision defect, Myopia, Difficulty adjusting from ligh... ORPHA:178333
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Albinism, Hypopigmentation of the fundus, Hypopigmentation of hair, Blue irides OMIM:606574
Gracile Bone Dysplasia
Hydrocephalus, Microphthalmia, Aniridia, Death in infancy OMIM:602361
Frontonasal Dysplasia 3
Cleft palate, Microphthalmia, Facial cleft OMIM:613456
Abruzzo-Erickson Syndrome
Coloboma, Macrotia, Hearing impairment, Protruding ear OMIM:302905
Myopia 17, Autosomal Dominant
Presenile cataracts, Retinal hole OMIM:608367
N Syndrome
Megalocornea ORPHA:2608
Palmoplantar Carcinoma, Multiple Self-Healing
Limbal stem cell deficiency, Corneal neovascularization OMIM:615225
Retinitis Pigmentosa 36
Rod-cone dystrophy, Macular degeneration, Bone spicule pigmentation of the retina, Attenuation of... OMIM:610599
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Phakodonesis, Anterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chambe... OMIM:601552
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Hydrocephalus, Cerebellar hypoplasia OMIM:604213
Leber Congenital Amaurosis 4
Keratoconus, Blindness, Nyctalopia, Reduced visual acuity OMIM:604393
2Q24 Microdeletion Syndrome
Cataract, Coloboma, Microphthalmia, Abnormality iris morphology ORPHA:1617
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome
Underdeveloped nasal alae, Convex nasal ridge, Wide nasal bridge, Cleft ala nasi ORPHA:2007
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Cofs Syndrome
Cataract, Microphthalmia, Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Long eyebrows, Long eyelashes, Peripheral axonal neu... OMIM:275400
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness, Developmental cataract OMIM:607674
Duane Retraction Syndrome
Abnormal pupil morphology, Irregular hyperpigmentation, Patchy hypopigmentation of hair, Central ... ORPHA:233
Waardenburg Syndrome, Type 2D
Heterochromia iridis OMIM:608890
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Cataract 17, Multiple Types
Amblyopia, Pulverulent cataract, Developmental cataract, Microcornea, Nuclear cataract, Reduced v... OMIM:611544
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Gombo Syndrome
Microphthalmia OMIM:233270
Retinitis Pigmentosa 2
Rod-cone dystrophy, Cataract, Chorioretinal degeneration, Fundus atrophy, Bull's eye maculopathy,... OMIM:312600
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Optic nerve misro... ORPHA:79435
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal dystrophy, Corneal guttata OMIM:609141
Retinal Cone Dystrophy 3B
Scotoma, Photophobia, Astigmatism, Myopia, Reduced visual acuity, Nyctalopia OMIM:610356
Chondrodysplasia-Disorder Of Sex Development Syndrome
Hypoplasia of the iris, Miosis, Chorioretinal coloboma ORPHA:1422
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Sveinsson Chorioretinal Atrophy
Astigmatism, Peripapillary chorioretinal atrophy OMIM:108985
Botulism
Mydriasis ORPHA:1267
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma, Microtia ORPHA:139450
Megalocornea-Intellectual Disability Syndrome
Megalocornea, Hypoplasia of the iris, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... ORPHA:2479
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal degeneration, Retinal detachment OMIM:617572
Cutis Marmorata Telangiectatica Congenita
Leukocoria, Retinal detachment OMIM:219250
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Nyctalopia, Visual impairment OMIM:607476
Peroxisome Biogenesis Disorder 2B
Polar cataract OMIM:202370
Vitreoretinochoroidopathy
Retinal arteriolar constriction, Vitreous hemorrhage, Retinal arteriolar occlusion, Pulverulent c... OMIM:193220
Central Retinal Vein Occlusion
Abnormal anterior eye segment morphology, Macular edema, Retinal vascular tortuosity, Macular deg... ORPHA:411527
Keratoconus 1
Astigmatism, Keratoconus OMIM:148300
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Retinal dots, Retinal pigment epithelial mottling, Macular atro... OMIM:608553
Leber Congenital Amaurosis 13
Retinal dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Attenuation of ret... OMIM:612712
Nystagmus 1, Congenital, X-Linked
Reduced visual acuity, Mildly reduced visual acuity OMIM:310700
Leber Congenital Amaurosis 7
Cataract, Keratoconus OMIM:613829
Senior-Loken Syndrome
Retinal dystrophy, Cataract, Abnormality of retinal pigmentation ORPHA:3156
Wagro Syndrome
Cataract, Corneal opacity, Aniridia OMIM:612469
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Anterior encephalocele, Facial cleft, Bilateral cleft lip, Bilateral cleft palate OMIM:601357
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Limbal dermoid, Microphthalmia, Sclerocornea OMIM:613001
Microphthalmia, Syndromic 5
Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Cataract, Microphthalmia OMIM:610125
Autoinflammation With Arthritis And Dyskeratosis
Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uveitis OMIM:617388
Foodborne Botulism
Mydriasis ORPHA:228371
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Downslanted palpebral fissures, Retinal fold, Optic atrophy, Epicanthus, Retinal detachment, Micr... OMIM:152950
Myopia 28, Autosomal Recessive
Retinal detachment, Cataract OMIM:619781
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Megalocornea, Anophthalmia, Abnormal optic nerve morphology, Corneal dystrophy, Abnormal vitreous... ORPHA:1101
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Cataract 19, Multiple Types
Cortical pulverulent cataract, Amblyopia OMIM:615277
Retinitis Pigmentosa 56
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Bone spicule pigmentation of the retina, ... OMIM:613581
Epithelial Recurrent Erosion Dystrophy
Corneal erosion OMIM:122400
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Microcornea, Iris coloboma, Peripheral retinal atrophy, Absent foveal reflex OMIM:615147
Coloboma, Ocular, Autosomal Dominant
Morning glory anomaly, Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anoma... OMIM:120200
Intellectual Developmental Disorder, Autosomal Recessive 50
Heterochromia iridis OMIM:616460
Insulinomatosis And Diabetes Mellitus
Multiple pancreatic beta-cell adenomas, Impaired glucose tolerance, Type II diabetes mellitus, Hy... OMIM:147630
Hyperparathyroidism 2 With Jaw Tumors
Nephroblastoma, Pancreatic adenocarcinoma, Recurrent pancreatitis, Parathyroid adenoma, Papillary... OMIM:145001
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Spastic Paraparesis-Deafness Syndrome
Cataract ORPHA:2815
Myopia 23, Autosomal Recessive
Reduced visual acuity, Increased axial length of the globe, High myopia, Visual impairment OMIM:615431
Oculomaxillofacial Dysostosis
Aplasia/Hypoplasia affecting the eye, Facial cleft, Median cleft lip, Cleft palate, Abnormality o... ORPHA:1794
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Reduced visual acuity, Blindness OMIM:601553
Retinitis Pigmentosa 10
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:180105
Weill-Marchesani Syndrome 3
Shallow anterior chamber, Microspherophakia, High myopia, Ectopia lentis OMIM:614819
Dyschromatosis Universalis Hereditaria
Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... ORPHA:241
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Iris hypopigmentation, White ... ORPHA:79433
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Microphthalmia, Isolated, With Coloboma 9
Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis, Iris coloboma,... OMIM:615145
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Biemond Syndrome Ii
Iris coloboma OMIM:210350
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Microphthalmia, Optic atrophy OMIM:274270
Blepharoptosis, Myopia, And Ectopia Lentis
Myopia, Increased axial length of the globe, Ectopia lentis OMIM:110150
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial atrophy, Optic disc drusen, Abnormal macular morphology, Posterior syn... ORPHA:364055
Alexander Disease
Microcoria OMIM:203450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Hydrocephalus, Cataract, Microphthalmia, Corneal opacity, Retinal detachment, Death in ... OMIM:613153
Idiopathic Panuveitis
Vitreous haze, Posterior synechiae of the anterior chamber, Vitreous floaters, Choroidal neovascu... ORPHA:280921
Usher Syndrome Type 3
Hemianopia, Iris hypopigmentation, Scotoma, Visual loss, Astigmatism, Cataract, High hypermetropi... ORPHA:231183
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment OMIM:610189
Retinitis Pigmentosa 77
Rod-cone dystrophy, Retinal atrophy, Bone spicule pigmentation of the retina, Attenuation of reti... OMIM:617304
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal fold, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Achromatopsia 3
Monochromacy, Achromatopsia, Moderately reduced visual acuity, Dyschromatopsia, Cataract, Severel... OMIM:262300
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Retinitis Pigmentosa 78
Visual field defect, Reduced visual acuity, Photopsia, Nyctalopia OMIM:617433
Donnai-Barrow Syndrome
Hypoplasia of the iris, Retinal dystrophy, Iris coloboma, Cataract, Retinal detachment OMIM:222448
Megalocornea-Mental Retardation Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis OMIM:249310
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Reduced visual acuity, Cerulean cataract, Central scotoma, Color vision defect, Blind-spot enlarg... OMIM:616732
Idiopathic Anterior Uveitis
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract ORPHA:280914
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Visual loss, ... ORPHA:98974
Granular Corneal Dystrophy Type Ii
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... ORPHA:98963
Retinitis Pigmentosa 83
Rod-cone dystrophy, Asteroid hyalosis, Vitreous floaters, Bone spicule pigmentation of the retina... OMIM:618173
Retinitis Pigmentosa 25
Rod-cone dystrophy, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels... OMIM:602772
Sorsby Pseudoinflammatory Fundus Dystrophy
Retinal pigment epithelial atrophy, Pigmentary retinopathy, Hyporeflective spaces on macular OCT,... ORPHA:59181
Microphthalmia, Syndromic 8
Microphthalmia, Microcornea OMIM:601349
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Peripapillary atrophy, Retinal dots, Retinal dystrophy, Atten... OMIM:616188
Late-Onset Retinal Degeneration
Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Peripa... ORPHA:67042
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome