Gene Summary

Name:
ADAMTS-like 4
Synonyms:
Tsrc1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
irregularly shaped pupil Adamtsl4em1(IMPC)J HOM Late adult 6.61×10-08
increased grip strength Adamtsl4em1(IMPC)J HOM Late adult 8.75×10-06
abnormal coat/ hair morphology Adamtsl4em1(IMPC)J HOM Early adult 4.93×10-08
absent vibrissae Adamtsl4em1(IMPC)J HOM Late adult 5.90×10-05
decreased grip strength Adamtsl4em1(IMPC)J HOM Early adult 2.68×10-07
cataract Adamtsl4em1(IMPC)J HOM Late adult 6.42×10-09
abnormal placement of pupils Adamtsl4em1(IMPC)J HOM Late adult 1.01×10-07
abnormal vibrissa morphology Adamtsl4em1(IMPC)J HOM Late adult 1.50×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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.

X-ray

XRay Images Whole Body Lateral Orientation

9 Images

X-ray

XRay Images Skull Lateral Orientation

9 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

9 Images

Eye Morphology

Images Ophthalmoscopy

9 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

9 Images

X-ray

XRay Images Forepaw

9 Images

Auditory Brain Stem Response

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

7 Images

Human diseases caused by Adamtsl4 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 Adamtsl4 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100

The table below shows human diseases predicted to be associated to Adamtsl4 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Anterior Segment Dysgenesis 8
Persistent pupillary membrane, Hypoplasia of the iris, Ectopia lentis, Microphakia, Iris transill... OMIM:617319
Pupillary Membrane, Persistence Of
Developmental cataract, Persistent pupillary membrane, Megalocornea OMIM:178900
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Peters anomaly,... OMIM:601631
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Cataract 20, Multiple Types
Cataract, Membranous cataract OMIM:116100
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Corneal Dystrophy, Posterior Amorphous
Corneal dystrophy, Ectopia pupillae, Iris coloboma OMIM:612868
Ectopia Lentis Et Pupillae
Retinal detachment, Persistent pupillary membrane, Cataract, Ectopia lentis OMIM:225200
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration, Cataract, Lens subluxation OMIM:614292
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Megalocornea
Decreased corneal thickness, Corneal arcus, Lens subluxation, Iris transillumination defect, Irid... OMIM:309300
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Microspherophakia With Hernia
Retinal detachment, Microspherophakia, Superior lens subluxation OMIM:157150
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 29
Cataract OMIM:115800
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 18
Cataract OMIM:610019
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Hypertrophic Neuropathy And Cataract
Cataract OMIM:239900
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Abnormality of retinal pigmentation, Ectopia lentis ORPHA:1259
Iridocorneal Endothelial Syndrome
Polycoria, Corneal stromal edema, Hypoplastic iris stroma, Abnormal migration of corneal endothel... ORPHA:64734
Uncombable Hair Syndrome 2
Juvenile cataract, Pili canaliculi, Uncombable hair OMIM:617251
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Thinning of Descemet membrane, Iris atrophy, Corneal op... OMIM:122000
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Persistent pupillary membrane, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Catarac... ORPHA:1067
Cataract And Congenital Ichthyosis
Cataract OMIM:212400
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Blue Cone Monochromatism
Abnormality of retinal pigmentation, Corneal dystrophy ORPHA:16
Microphthalmia, Isolated, With Corectopia
Ectopia pupillae OMIM:156900
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Cochleosaccular Degeneration With Progressive Cataracts
Progressive cataract OMIM:120040
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment, Lens coloboma, Microspherophakia, Lens subluxation OMIM:157151
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Abnormal pupil morp... ORPHA:170
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Aniridia-Intellectual Disability Syndrome
Aniridia, Optic nerve hypoplasia, Cataract, Ectopia lentis ORPHA:1068
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Aniridia 3
Cataract OMIM:617142
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Cata... OMIM:180104
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Lens subluxation, Microphakia, Retinal detachment, Cataract ORPHA:171844
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 37
Pigmentary retinopathy, Cataract, Cystoid macular degeneration, Rod-cone dystrophy OMIM:611131
Trichomegaly
Long eyelashes, Cataract OMIM:190330
Retinitis Pigmentosa 2
Pigmentary retinopathy, Cataract, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Isolated Ectopia Lentis
Cataract, Ectopia pupillae, Ectopia lentis ORPHA:1885
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Posterior Polymorphous Corneal Dystrophy
Corneal stromal edema, Reduced number of corneal endothelial cells, Chorioretinal degeneration, I... ORPHA:98973
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 4
Cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Chorioretinal coloboma, Iris coloboma OMIM:616428
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness
Chorioretinal coloboma, Cataract OMIM:274205
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Astigmatism, Pigmentary retinopathy OMIM:268060
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract ORPHA:1397
Exfoliation Syndrome
Mydriasis, Abnormality of the lens, Lens subluxation, Iris hypoperfusion, Phakodonesis, Pseudoexf... OMIM:177650
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment... OMIM:251270
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Leber Congenital Amaurosis 2
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204100
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Sclerocornea, Long eyelashes, Cataract, Microcornea, Ectopia pupillae OMIM:615877
Corneal Dystrophy, Groenouw Type I
Nodular corneal dystrophy, Granular corneal dystrophy, Cataract, Punctate corneal dystrophy OMIM:121900
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome
Cataract ORPHA:73245
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Aldh18A1-Related De Barsy Syndrome
Cataract ORPHA:35664
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Cataract, Optic disc coloboma ORPHA:35737
Glaucoma 3, Primary Congenital, D
Corneal opacity, Primary congenital glaucoma, Ectopia lentis OMIM:613086
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Abnormal anterior eye segment morphology, Macular edema, Macular degener... ORPHA:411527
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Cataract 12, Multiple Types
Developmental cataract, Progressive cataract OMIM:611597
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Cortical cataract, Retinal pigment ep... OMIM:618613
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... OMIM:611040
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Coloboma, Ocular, Autosomal Recessive
Lens subluxation, Retinal coloboma, Optic disc coloboma, Iris coloboma, Cataract OMIM:216820
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Crystalline corneal dystrophy, Choriore... ORPHA:41751
Cataract-Microcornea Syndrome
Corneal dystrophy, Iris coloboma, Corneal opacity, Cataract, Microcornea ORPHA:1377
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Ectopia lentis, Iridodonesis, Microspherophakia, Deep anterior chamber, Megalocornea OMIM:251750
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Cataract OMIM:300719
Axenfeld-Rieger Syndrome, Type 3
Ectopia pupillae, Hypoplasia of the iris, Posterior embryotoxon OMIM:602482
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Nathalie Syndrome
Cataract ORPHA:2663
Cataract-Nephropathy-Encephalopathy Syndrome
Cataract ORPHA:1380
Retinitis Pigmentosa 7
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:608133
Stargardt Disease
Aplasia/Hypoplasia of the macula, Retinal pigment epithelial mottling, Macular degeneration, Reti... ORPHA:827
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Retinitis Pigmentosa 46
Optic disc pallor, Posterior subcapsular cataract, Attenuation of retinal blood vessels, Rod-cone... OMIM:612572
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome
Ectopia lentis ORPHA:2084
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Loose Anagen Syndrome
Abnormal hair whorl, Abnormal hair morphology, Iris coloboma ORPHA:168
Aniridia 1
Corneal erosion, Anterior subcapsular cataract, Ectopia lentis, Hypoplasia of the iris, Aniridia,... OMIM:106210
Alpha-N-Acetylgalactosaminidase Deficiency Type 3
Cataract ORPHA:79281
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Ectopia Lentis 2, Isolated, Autosomal Recessive
Ectopia lentis OMIM:225100
Ectopia Lentis 1, Isolated, Autosomal Dominant
Ectopia lentis OMIM:129600
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 56
Nuclear cataract, Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Bone... OMIM:613581
Uveal Melanoma
Mydriasis, Abnormal fundus morphology, Zonular cataract, Iris melanoma, Retinal detachment, Vitre... ORPHA:39044
Weill-Marchesani Syndrome 4
Iridodonesis, Phakodonesis, Ectopia lentis OMIM:613195
Foveal Hypoplasia-Presenile Cataract Syndrome
Cataract ORPHA:2253
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma OMIM:610092
X-Linked Retinoschisis
Cataract ORPHA:792
Retinitis Pigmentosa 83
Posterior subcapsular cataract, Vitreous floaters, Bone spicule pigmentation of the retina, Rod-c... OMIM:618173
Leber Congenital Amaurosis
Keratoconus, Abnormality of the optic disc, Abnormality of retinal pigmentation, Cataract ORPHA:65
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Leber Congenital Amaurosis 1
Keratoconus, Cataract, Fundus atrophy, Pigmentary retinopathy OMIM:204000
Retinitis Pigmentosa 74
Posterior polar cataract, Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Retinitis Pigmentosa 43
Pigmentary retinopathy, Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentat... OMIM:613810
Galactosemia Iv
Cataract OMIM:618881
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Developmental cataract, Cataract OMIM:613076
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Choroideremia
Abnormality of retinal pigmentation ORPHA:180
Bornholm Eye Disease
Astigmatism, Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Retinal detachment, Cataract, Lens subluxation ORPHA:93296
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation, Cataract ORPHA:3156
Cataract 9, Multiple Types
Developmental cataract, Progressive cataract, Iris coloboma, Cataract, Microcornea OMIM:604219
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Microphthalmia, Isolated, With Cataract 1
Cataract OMIM:156850
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Wildervanck Syndrome
Pseudopapilledema, Lens subluxation ORPHA:3456
Genetic Hyperferritinemia Without Iron Overload
Cataract ORPHA:254704
Retinitis Pigmentosa 25
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:602772
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... ORPHA:215
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Astigmatism, Scarring alopecia of scalp, Cataract, Ectopia pupillae OMIM:618727
Retinitis Pigmentosa 10
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:180105
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Weill-Marchesani Syndrome 3
Microspherophakia, Shallow anterior chamber, Ectopia lentis OMIM:614819
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Blepharoptosis, Myopia, And Ectopia Lentis
Ectopia lentis OMIM:110150
Spastic Paraparesis And Deafness
Cataract OMIM:312910
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Chorioretinal coloboma, Abnormality of retinal pigmentation ORPHA:2196
Retinopathy, Pigmentary, And Mental Retardation
Cataract, Pigmentary retinopathy OMIM:268050
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Tricho-Retino-Dento-Digital Syndrome
Juvenile cataract, Abnormality of retinal pigmentation ORPHA:1264
Megaepiphyseal Dwarfism
Inferior lens subluxation OMIM:249230
Galactosemia Ii
Cataract OMIM:230200
Zika Virus Disease
Macular atrophy, Lens subluxation, Optic disc hypoplasia, Abnormality of the optic disc, Retinal ... ORPHA:448237
Chorea, Remitting, With Nystagmus And Cataract
Cataract OMIM:601372
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Distal Monosomy 6P
Hypoplasia of the iris, Posterior embryotoxon, Corneal opacity, Abnormal anterior chamber morphol... ORPHA:96125
Hyperlysinemia, Type I
Ectopia lentis OMIM:238700
Papillorenal Syndrome
Morning glory anomaly, Retinal coloboma, Macular hyperpigmentation, Optic disc coloboma, Macular ... OMIM:120330
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology ORPHA:101082
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Aniridia, Microcornea, Cataract OMIM:106230
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract OMIM:617133
Enhanced S-Cone Syndrome
Vitreoretinopathy, Macular edema, Cataract, Pigmentary retinopathy, Retinoschisis OMIM:268100
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal arter... OMIM:193220
Retinitis Pigmentosa 14
Optic disc pallor, Posterior subcapsular cataract, Bone spicule pigmentation of the retina, Rod-c... OMIM:600132
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Corneal erosion, Generalized hyperpigmentation, Macular dege... ORPHA:816
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:1466
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation ORPHA:2743
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Catarac... ORPHA:791
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Temtamy Syndrome
Lens luxation, Chorioretinal coloboma, Ectopia lentis, Iris coloboma OMIM:218340
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Cataract OMIM:610156
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Cone-Rod Dystrophy 3
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... OMIM:604116
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Cataract OMIM:254000
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration OMIM:613767
Anisocoria
Anisocoria OMIM:106240
Facial Spasm
Anisocoria OMIM:134300
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Poster... ORPHA:364055
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology OMIM:160565
Epidermolysis Bullosa, Late-Onset Localized Junctional, With Mental Retardation
Lens subluxation OMIM:226440
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Cataract OMIM:615412
Optic Atrophy 3, Autosomal Dominant
Cataract OMIM:165300
Iris Pigment Layer, Cleavage Of
Cataract OMIM:147610
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Le... ORPHA:52427
Encephalopathy, Axonal, With Necrotizing Myopathy, Cardiomyopathy, And Cataracts
Cataract OMIM:225740
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy, Corneal crystals OMIM:219900
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Astigmatism, Iris hypopigmentation, Ocular albinism ORPHA:54
Oculofaciocardiodental Syndrome
Ectopia lentis, Iris coloboma, Retinal detachment, Cataract, Microcornea ORPHA:2712
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Marfanoid Hypermobility Syndrome
Ocular anterior segment dysgenesis, Ectopia lentis OMIM:154750
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... OMIM:145350
Ramon Syndrome
Abnormality of retinal pigmentation, Abnormal anterior chamber morphology ORPHA:3019
Weill-Marchesani Syndrome
Cataract, Ectopia lentis ORPHA:3449
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Bardet-Biedl Syndrome 18
Cataract OMIM:615995
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... OMIM:605549
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Lens subluxation, Retinal atrophy, Retinal ... ORPHA:85167
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Coats Disease
Cataract, Aplasia/Hypoplasia of the iris, Abnormal anterior chamber morphology ORPHA:190
Aniridia 2
Aniridia, Cataract OMIM:617141
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Iris coloboma, Uveitis, Cor... OMIM:221900
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hirsutism, Cataract ORPHA:85288
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low anterior hairline, Ectopia pupillae OMIM:618223
Nathalie Syndrome
Cataract OMIM:255990
Cataract 21, Multiple Types
Microcornea, Cerulean cataract, Cortical pulverulent cataract, Iris coloboma OMIM:610202
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Cataract 47
Microcornea, Cataract OMIM:612018
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613464
Cataract 1, Multiple Types
Nuclear cataract, Developmental cataract, Posterior subcapsular cataract, Microcornea, Pulverulen... OMIM:116200
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Bare Lymphocyte Syndrome, Type I
Ectopia lentis OMIM:604571
Leber Congenital Amaurosis 7
Keratoconus, Cataract OMIM:613829
Congenital Disorder Of Glycosylation, Type Ii
Cataract OMIM:607906
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Bardet-Biedl Syndrome 9
Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cataract, Atte... OMIM:615986
Kahrizi Syndrome
Cataract, Iris coloboma OMIM:612713
Hec Syndrome
Abnormal pupil morphology, Developmental cataract ORPHA:2119
Short Syndrome
Hypoplasia of the iris, Posterior embryotoxon, Alopecia, Abnormal pupil morphology, Corneal opaci... ORPHA:3163
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Hemolytic Anemia Due To Glutathione Reductase Deficiency
Cataract OMIM:618660
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Corneal guttata, Optically empty vitreous, Retinal detachment, Cataract, Snowflake ... OMIM:193230
Knobloch Syndrome
Ectopia lentis, Vitreoretinopathy, Macular degeneration, Retinal detachment, Abnormal vitreous hu... ORPHA:1571
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology ORPHA:2151
Coats Disease
Leukocoria OMIM:300216
Sulfite Oxidase Deficiency, Isolated
Ectopia lentis OMIM:272300
Cataract 11, Multiple Types
Cataract OMIM:610623
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:44
Triopia
Abnormal pupil morphology, Microcornea, Abnormal eyebrow morphology, Iris coloboma ORPHA:3374
Polycystic Kidney, Cataract, And Congenital Blindness
Microcoria, Cataract OMIM:263100
Encephalopathy Due To Sulfite Oxidase Deficiency
Ectopia lentis ORPHA:833
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Hypopigmentation of the skin, Lens subluxation, Ectopia lentis OMIM:236200
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, White eyelashes, White forelock, Abnormal macular morphology... ORPHA:897
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, Cataract, Keratoconus OMIM:613835
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Ectopia lentis ORPHA:2325
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Iris coloboma ORPHA:171860
Edict Syndrome
Developmental cataract, Hypoplasia of the iris, Astigmatism, Microcornea, Keratoconus OMIM:614303
Marshall Syndrome
Ectopia lentis, Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Cataract ORPHA:560
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Cataract ORPHA:3085
Amoebic Keratitis
Corneal perforation, Decreased corneal sensation, Corneal stromal edema, Anterior uveitis, Iris a... ORPHA:67043
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod... OMIM:609033
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Kniest Dysplasia
Rhegmatogenous retinal detachment, Aplasia/Hypoplasia of the lens, Vitreoretinopathy, Degenerativ... ORPHA:485
Congenital Rubella Syndrome
Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Corneal opacity, Cataract ORPHA:290
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Monilethrix
Fine hair, Brittle hair, Abnormal eyebrow morphology, Cataract, Slow-growing hair, Patchy alopeci... ORPHA:573
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma OMIM:212550
Cataract 15, Multiple Types
Nuclear cataract, Developmental cataract, Lamellar cataract, Cortical cataract, Cataract OMIM:615274
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Ectopia lentis OMIM:245160
Classic Homocystinuria
Optic atrophy, Abnormality of retinal pigmentation, Ectopia lentis, Retinal detachment, Cataract ORPHA:394
Arthrogryposis, Distal, Type 5
Keratoglobus, Astigmatism, Abnormality of retinal pigmentation, Keratoconus OMIM:108145
Peters Anomaly
Opacification of the corneal stroma, Thinning of Descemet membrane, Peters anomaly, Developmental... ORPHA:708
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Developmental cataract, Polycoria, Hypoplasia of the iris, Corneal opacity, Astigmatism, Microcor... OMIM:175780
Mental Retardation, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Cataract, Microcephaly, Failure To Thrive, Kyphoscoliosis Syndrome
Cataract OMIM:212540
Exudative Vitreoretinopathy 6
Cataract, Chorioretinal atrophy OMIM:616468
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation ORPHA:141
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Isolated Aniridia
Aniridia, Cataract, Peters anomaly ORPHA:250923
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Cataract ORPHA:1473
Lipodystrophy, Familial Partial, Type 7
Developmental cataract, Pigmentary retinopathy OMIM:606721
Phacoanaphylactic Uveitis
Conjunctival hyperemia, Hypopyon, Posterior uveitis, Corneal keratic precipitates, Corneal stroma... ORPHA:209959
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Corneal opacity, Retinopathy ORPHA:578
Proximal Myotonic Myopathy
Cataract ORPHA:606
Aniridia And Absent Patella
Aniridia, Cataract OMIM:106220
Leber Congenital Amaurosis 6
Keratoconus, Cataract OMIM:613826
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Subcapsular cataract, Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Cataract 10, Multiple Types
Posterior Y-sutural cataract, Developmental cataract, Zonular cataract OMIM:600881
Cataract 41
Nuclear cataract, Developmental cataract OMIM:116400
Acute Zonal Occult Outer Retinopathy
Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig... ORPHA:284454
Autosomal Dominant Keratitis
Abnormality of the corneal limbus, Aniridia, Hypoplastic iris stroma, Limbal stem cell deficiency... ORPHA:2334
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at... OMIM:120970
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Chorioretinal coloboma, Retinal dystrophy, Iris coloboma, Remnants of the h... ORPHA:231736
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Microcornea, Cataract OMIM:619082
Anterior Segment Dysgenesis 2
Anterior segment of eye aplasia, Sclerocornea, Congenital aphakia, Aniridia, Peters anomaly, Post... OMIM:610256
Retinitis Pigmentosa 84
Cataract OMIM:618220
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome
Cataract ORPHA:2278
Anterior Segment Dysgenesis 7
Buphthalmos, Sclerocornea, Cataract, Microcornea, Ocular anterior segment dysgenesis OMIM:269400
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Thanatophoric Dysplasia, Glasgow Variant
Cataract OMIM:273680
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Upper Limb Defect-Eye And Ear Abnormalities Syndrome
Chorioretinal coloboma, Cataract ORPHA:2489
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Chorioretinal coloboma, Generalized hyperpigmentation, Melan... ORPHA:2481
Marshall Syndrome
Vitreoretinopathy, Retinal detachment, Developmental cataract, Lens luxation OMIM:154780
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Gyrate Atrophy Of Choroid And Retina
Abnormal hair morphology, Chorioretinal degeneration, Subcapsular cataract, Cataract, Chorioretin... ORPHA:414
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy ORPHA:370968
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Retinopathy, Chorioretina... ORPHA:5
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Wagner Vitreoretinopathy
Cataract, Chorioretinal atrophy OMIM:143200
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmentation of the skin, Cataract, Abnor... ORPHA:1493
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy ORPHA:100996
Mulibrey Nanism
Pigmentary retinopathy, Astigmatism, Corneal dystrophy, Iris coloboma OMIM:253250
Stickler Syndrome Type 2
Corneal opacity, Cataract ORPHA:90654
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Cataract, Corneal dystrophy ORPHA:1369
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal ... ORPHA:2715
Dyssegmental Dysplasia, Rolland-Desbuquois Type
Lens luxation, Ectopia lentis OMIM:224400
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Ectopia lentis OMIM:601552
Pellagra-Like Syndrome
Cataract OMIM:260650
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Nail dystrophy, Alopecia totalis, Cataract ORPHA:1366
Persistent Hyperplastic Primary Vitreous
Buphthalmos, Persistent pupillary membrane, Shallow anterior chamber, Developmental cataract, Cor... ORPHA:91495
Cataract 3, Multiple Types
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract OMIM:601547
Pierson Syndrome
Microcoria, Posterior lenticonus, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the cilia... OMIM:609049
Congenital Varicella Syndrome
Cataract ORPHA:291
Oculopalatocerebral Syndrome
Leukocoria OMIM:257910
Absence Deformity Of Leg-Cataract Syndrome
Cataract ORPHA:2310
Congenital Contractural Arachnodactyly
Ectopia lentis ORPHA:115
Marfanoid-Progeroid-Lipodystrophy Syndrome
Keratoconjunctivitis sicca, Melanocytic nevus, Ectopia lentis OMIM:616914
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Mental Retardation
Band keratopathy, Cataract OMIM:604278
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Anterior Segment Dysgenesis 5
Developmental cataract, Posterior embryotoxon, Hypoplasia of the iris, Sclerocornea, Rieger anoma... OMIM:604229
Trichothiodystrophy 3, Photosensitive
Tiger tail banding, Brittle hair, Cataract OMIM:616395
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts
Cataract OMIM:183800
Focal Dermal Hypoplasia
Chorioretinal coloboma, Hypoplasia of the iris, Ectopia lentis, Abnormality of skin pigmentation,... ORPHA:2092
Proteus-Like Syndrome
Heterochromia iridis, Abnormal pupil morphology, Cataract, Limbal dermoid ORPHA:2969
Weill-Marchesani Syndrome 2
Shallow anterior chamber, Ectopia lentis, Iridodonesis, Microspherophakia, Cataract, Lens luxatio... OMIM:608328
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of retinal pigmentation, Corneal opacity, Cataract ORPHA:585
Revesz Syndrome
Fine hair, Nail dystrophy, Megalocornea, Sparse hair, Leukocoria OMIM:268130
Intellectual Developmental Disorder And Retinitis Pigmentosa
Cataract OMIM:618195
Ehlers-Danlos Syndrome, Classic Type, 1
Ectopia lentis OMIM:130000
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cataract OMIM:120433
Molybdenum Cofactor Deficiency, Complementation Group B
Lens luxation, Ectopia lentis OMIM:252160
Refsum Disease
Abnormality of retinal pigmentation, Cataract, Retinopathy ORPHA:773
Leber Congenital Amaurosis 16
Cataract OMIM:614186
Usher Syndrome Type 3
Astigmatism, Iris hypopigmentation, Cataract ORPHA:231183
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Weill-Marchesani Syndrome 1
Microspherophakia, Shallow anterior chamber, Cataract, Ectopia lentis OMIM:277600
Cochleosaccular Degeneration-Cataract Syndrome
Cataract ORPHA:3233
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Cataract, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:88628
Mowat-Wilson Syndrome
Broad eyebrow, Chorioretinal coloboma, Iris coloboma, Cataract, Microcornea, Ectopia pupillae, Su... OMIM:235730
Lowry-Wood Syndrome
Astigmatism, Abnormality of retinal pigmentation ORPHA:1824
3-Methylglutaconic Aciduria Type 4
Iris hypopigmentation, Cataract ORPHA:67048
Norrie Disease
Optic atrophy, Aplasia/Hypoplasia of the lens, Hypoplasia of the iris, Ectopia lentis, Sclerocorn... ORPHA:649
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Posterior embryotoxon, Hypoplasia of the iris, Aniridia, Rieger anomaly, Megalocornea,... OMIM:180500
Marfanoid Habitus With Situs Inversus
Lens subluxation OMIM:609008
Marfan Syndrome
Flat cornea, Hypoplasia of the iris, Lens subluxation, Ectopia lentis, Retinal detachment, Lens l... ORPHA:558
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Pigmentary retinopathy OMIM:613156
Iris Hypoplasia With Glaucoma
Iris atrophy, Hypoplasia of the iris OMIM:308500
Hypomelanosis Of Ito
Alopecia, Cataract, Iris coloboma OMIM:300337
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Retinal degeneration, Pigmentary retinopathy ORPHA:79264
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Leigh Syndrome
Optic atrophy, Pigmentary retinopathy OMIM:256000
Congenital Cataracts, Hearing Loss, And Neurodegeneration
Developmental cataract, Cataract OMIM:614482
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Cataract 6, Multiple Types
Posterior polar cataract, Developmental cataract, Choroideremia OMIM:116600
Joubert Syndrome 3
Retinal dystrophy, Pigmentary retinopathy OMIM:608629
Cutis Marmorata Telangiectatica Congenita
Leukocoria OMIM:219250
Cataract 5, Multiple Types
Nuclear cataract, Anterior polar cataract, Lamellar cataract, Zonular cataract, Pulverulent cataract OMIM:116800
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation ORPHA:96
Contractural Arachnodactyly, Congenital
Ectopia lentis OMIM:121050
Wolf-Hirschhorn Syndrome
Highly arched eyebrow, Rieger anomaly, Iris coloboma, Low posterior hairline, Ectopia pupillae OMIM:194190
Oculodentodigital Dysplasia, Autosomal Recessive
Fine hair, Persistent pupillary membrane, Sparse eyelashes, Cataract, Microcornea OMIM:257850
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:615994
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Retinal coloboma, Cataract, Microcornea ORPHA:2510
Molybdenum Cofactor Deficiency, Complementation Group A
Lens luxation, Ectopia lentis OMIM:252150
Duane Retraction Syndrome
Patchy hypopigmentation of hair, Chorioretinal coloboma, Aniridia, Hypoplastic iris stroma, Iris ... ORPHA:233
Cataract 43
Subcapsular cataract OMIM:616279
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria ORPHA:289483
Hypogonadism-Cataract Syndrome
Cataract OMIM:240950
Congenital Bile Acid Synthesis Defect Type 4
Cataract, Pigmentary retinopathy ORPHA:79095
Norrie Disease
Opacification of the corneal stroma, Shallow anterior chamber, Cataract, Hypoplasia of the iris OMIM:310600
Ifap Syndrome 2
Keratoconjunctivitis sicca, Nail dystrophy, Atrichia, Keratitis, Cataract, Sparse hair OMIM:619016
Anterior Segment Dysgenesis 1
Posterior polar cataract, Peters anomaly, Opacification of the corneal stroma, Microcornea, Ocula... OMIM:107250
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Sparse eyelashes, Nail dystrophy, Alopecia, Scarring alopecia of scalp, Keratitis, Cataract, Spar... OMIM:612843
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Alopecia, Cataract OMIM:615704
Peroxisome Biogenesis Disorder 5A (Zellweger)
Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... OMIM:614866
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Optic ne... OMIM:214110
Intestinal Botulism
Mydriasis ORPHA:178481
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Cataract, Pigmentary retinopathy OMIM:610651
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Cataract, Aplasia/Hypoplasia of the lens ORPHA:1381
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Clouston Syndrome
Fine hair, Sparse eyelashes, Absent pubic hair, Brittle hair, Nail dystrophy, Alopecia, Alopecia ... OMIM:129500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis OMIM:619365
Marfan Syndrome
Hypoplasia of the iris, Ectopia lentis, Microspherophakia, Retinal detachment, Cataract, Astigmatism OMIM:154700
Familial Dysautonomia
Heterochromia iridis, Abnormal pupil morphology, Corneal opacity, Corneal erosion ORPHA:1764
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Pigmentary retino... OMIM:560000
Alagille Syndrome
Abnormal pupil morphology, Corneal dystrophy, Keratoconus ORPHA:52
Vogt-Koyanagi-Harada Disease
Poliosis, Abnormal eyebrow morphology, Cataract, Sparse scalp hair, Abnormal eyelash morphology, ... ORPHA:3437
Galactose Mutarotase Deficiency
Cataract ORPHA:570422
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Developmental cataract, Posterior synechiae of the anterior chamber OMIM:616722
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Anterior Segment Dysgenesis 6
Corneal opacity, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morpholo... OMIM:617315
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis ORPHA:247815
Oculocerebral Hypopigmentation Syndrome Of Preus
Cataract OMIM:257790
Aniridia-Absent Patella Syndrome
Aniridia, Cataract ORPHA:1069
Schwartz-Jampel Syndrome
Microcornea, Cataract, Ectopia lentis ORPHA:800
Hereditary Mucoepithelial Dysplasia
Fine hair, Alopecia, Corneal dystrophy, Cataract, Sparse hair ORPHA:1839
Usher Syndrome
Astigmatism, Abnormality of retinal pigmentation, Cataract ORPHA:886
Iatrogenic Botulism
Mydriasis ORPHA:254509
Hereditary Bullous Dystrophy, Macular Type
Nail dystrophy, Alopecia, Atrichia, Corneal opacity, Cataract, Congenital abnormal hair pattern ORPHA:1867
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Cataract OMIM:601811
Chromosome 6Pter-P24 Deletion Syndrome
Posterior embryotoxon, Axenfeld anomaly, Peters anomaly, Pigmentary retinopathy, Opacification of... OMIM:612582
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Wound Botulism
Mydriasis ORPHA:178475
Stickler Syndrome
Ectopia lentis, Retinal detachment, Abnormal vitreous humor morphology, Cataract, Astigmatism ORPHA:828
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Cataract, Peters anomaly OMIM:613150
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Vitiligo, Cataract, Pigmentary retinopathy, Keratoconjunctivitis, Perifoveal ring of hyperautoflu... OMIM:240300
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Highly arched eyebrow, Broad eyebrow, Axenfeld anomaly, Iris coloboma, Iris atrophy, Abnormal pup... ORPHA:261552
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Cataract 30, Multiple Types
Posterior polar cataract, Pulverulent cataract, Diffuse nuclear cataract OMIM:116300
Achromatopsia 3
Cataract OMIM:262300
Neonatal Marfan Syndrome
Iridodonesis, Megalocornea, Ectopia lentis ORPHA:284979
Inhalational Botulism
Mydriasis ORPHA:254504
Nephronophthisis 11
Anisocoria OMIM:613550
Alacrima, Achalasia, And Mental Retardation Syndrome
Anisocoria OMIM:615510
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Fine hair, Sparse eyelashes, Hypoplastic nipples, Absent pubic hair, Distichiasis, Cataract, Opac... OMIM:211370
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Oculo-Palato-Cerebral Syndrome
Leukocoria, Cataract ORPHA:2714
Focal Dermal Hypoplasia
Optic atrophy, Linear hyperpigmentation, Chorioretinal coloboma, Ectopia lentis, Aniridia, Reticu... OMIM:305600
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:2235
Charcot-Marie-Tooth Disease Type 1E
Abnormal pupil morphology, Anisocoria ORPHA:90658
Ectodermal Dysplasia-Blindness Syndrome
Keratoconjunctivitis sicca, Fine hair, Sclerocornea, Corneal dystrophy, Cataract, Microcornea, Sp... ORPHA:1806
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized hypopigmentation, M... ORPHA:1969
Retinoblastoma
Retinal calcification, Abnormality of retinal pigmentation, Hypopyon, Subretinal pigment epitheli... ORPHA:790
Coffin-Lowry Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cataract ORPHA:192
Cataract 31, Multiple Types
Nuclear cataract, Posterior subcapsular cataract, Anterior subcapsular cataract OMIM:605387
Cahmr Syndrome
Lamellar cataract, Generalized hypertrichosis OMIM:211770
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Botulism
Mydriasis ORPHA:1267
Achalasia-Addisonianism-Alacrima Syndrome
Anisocoria OMIM:231550
Cataracts, Spastic Paraparesis, And Speech Delay
Cataract OMIM:619338
Cohen Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal dystrophy, Abnormality of skin ... ORPHA:193
Hypoparathyroidism, Familial Isolated, 1
Cataract OMIM:146200
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, Sclerocornea, Iris coloboma, Cataract, Microcornea ORPHA:139471
Foodborne Botulism
Mydriasis ORPHA:228371
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ectopia lentis OMIM:271640
Oculoauricular Syndrome
Iris cyst, Developmental cataract, Chorioretinal coloboma, Posterior embryotoxon, Microphakia, Sc... OMIM:612109
Alstrom Syndrome
Subcapsular cataract, Cone/cone-rod dystrophy, Pigmentary retinopathy OMIM:203800
Mucopolysaccharidosis, Type Ii
Papilledema, Abnormality of retinal pigmentation OMIM:309900
Kearns-Sayre Syndrome
Pigmentary retinopathy OMIM:530000
Werner Syndrome
White forelock, Abnormality of retinal pigmentation, Cataract, Premature graying of hair ORPHA:902
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Prolidase Deficiency
White forelock, Abnormality of retinal pigmentation ORPHA:742
Bardet-Biedl Syndrome
Pigmentary retinopathy ORPHA:110
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Brushfield spots, Cataract, Pigmentary retinopathy, Opacification of the corne... OMIM:214100
Trisomy 18
Abnormality of retinal pigmentation, Cyclopia, Iris coloboma, Cataract, Microcornea ORPHA:3380
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Retinal dyspl... ORPHA:2526
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:220110
Cataract 33, Multiple Types
Nuclear cataract, Lamellar cataract, Cortical cataract OMIM:611391
Aicardi Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Abnormality of skin p... ORPHA:50
Khan-Khan-Katsanis Syndrome
Corneal scarring, Buphthalmos, Peters anomaly, Pigmentary retinopathy OMIM:618460
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Pigmentary retinopathy ORPHA:436271
Linear Skin Defects With Multiple Congenital Anomalies 1
Sclerocornea, Pigmentary retinopathy, Cataract, Iris coloboma OMIM:309801
Cockayne Syndrome