Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
rhodopsin
Synonyms:
RP4,  L opsin,  Long Wavelength Sensitive opsin,  Noerg1,  Opn2,  Red Opsin,  LWS opsin,  Rod Opsin,  Ops,  opsin 2

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

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

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Cone-Rod Dystrophy, X-Linked, 2
Cone/cone-rod dystrophy, Cone dystrophy OMIM:300085
Retinitis Pigmentosa 24
Cone dystrophy, Rod-cone dystrophy OMIM:300155
Cone-Rod Dystrophy 19
Retinal dystrophy, Cone/cone-rod dystrophy OMIM:615860
Retinitis Pigmentosa, Late-Adult Onset
Rod-cone dystrophy OMIM:268025
Retinitis Pigmentosa, Y-Linked
Rod-cone dystrophy OMIM:400004
Retinitis Pigmentosa 55
Rod-cone dystrophy OMIM:613575
Retinitis Pigmentosa 67
Rod-cone dystrophy OMIM:615565
Leber Congenital Amaurosis 13
Retinal dystrophy OMIM:612712
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Macular scar, Drusen OMIM:615439
Exudative Vitreoretinopathy 7
Vitreoretinopathy, Retinal degeneration, Retinal hole OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Cone-Rod Dystrophy 9
Cone/cone-rod dystrophy, Visual impairment OMIM:612775
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
Cone-Rod Dystrophy 7
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy OMIM:603649
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Stargardt Disease 4
Retinal flecks, Macular degeneration OMIM:603786
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat... OMIM:610599
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Stargardt Disease 3
Macular atrophy, Macular dystrophy, Macular flecks OMIM:600110
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri... OMIM:608051
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Macular Dystrophy, Vitelliform, 2
Macular dystrophy, Subretinal fluid, Cystoid macular degeneration OMIM:153700
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:609923
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti... OMIM:312700
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Macular Dystrophy, Retinal, 3
Retinal pigment epithelial atrophy, Macular drusen OMIM:608850
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Retinopathy, Pericentral Pigmentary, Dominant
Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,... OMIM:180210
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Exudative Vitreoretinopathy 3
Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment OMIM:605750
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Retinitis Pigmentosa 13
Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy OMIM:600059
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Retinal Cone Dystrophy 1
Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:180020
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy OMIM:304030
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Drusen OMIM:608970
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy OMIM:605670
Liberfarb Syndrome
Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment... OMIM:618889
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration OMIM:610381
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Sorsby Pseudoinflammatory Fundus Dystrophy
Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ... ORPHA:59181
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Best Vitelliform Macular Dystrophy
Choroideremia, Cystoid macular degeneration, Metamorphopsia, Visual field defect, Color vision de... ORPHA:1243
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy OMIM:600790
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:613862
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Central scotoma, Macular dystrophy, Reduced visual acuity, Bull's eye maculopa... OMIM:616170
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:610359
Persistent Placoid Maculopathy
Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor... ORPHA:97341
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Cone dystrophy, Macular degeneration OMIM:600977
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Central Areolar Choroidal Dystrophy
Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp... ORPHA:75377
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy... OMIM:603075
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy... OMIM:607921
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy OMIM:615780
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Retinitis Pigmentosa 3
Reduced visual acuity, Rod-cone dystrophy OMIM:300029
Congenital Glaucoma
Retinal detachment ORPHA:98976
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinopathy Of Prematurity
Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog... ORPHA:90050
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Peripheral retinal atrophy, Macular dystrophy, Drusen OMIM:136550
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr... OMIM:616468
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Familial Drusen
Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Macular... ORPHA:75376
Bothnia Retinal Dystrophy
Retinal dystrophy, Macular degeneration OMIM:607475
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Stargardt Disease
Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe... ORPHA:827
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu... ORPHA:179
Retinitis Pigmentosa 32
Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen... OMIM:609913
Retinitis Pigmentosa 47
Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:613758
Retinitis Pigmentosa 50
Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal... OMIM:613194
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Irvan Syndrome
Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ... ORPHA:209943
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:300071
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Retinal exudate OMIM:613310
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Macular atrophy, Cranial nerve compression OMIM:250450
Retinal Detachment
Retinal detachment OMIM:180050
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene... OMIM:618195
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Wagner Vitreoretinopathy
Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ... OMIM:143200
Macular Dystrophy, Vitelliform, 1
Macular dystrophy, Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, ... OMIM:153840
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut... OMIM:204500
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Retinal flecks OMIM:611809
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Central scotoma, Macular dystrophy, Reduced visual acuity, Vite... OMIM:616152
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy ORPHA:75373
Retinitis Pigmentosa 84
Macular coloboma, Macular atrophy, Rod-cone dystrophy OMIM:618220
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Retinitis Pigmentosa 11
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:600138
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:610189
Stickler Syndrome, Type I, Nonsyndromic Ocular
Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Retinal Dystrophy And Obesity
Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy OMIM:616188
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio... OMIM:618144
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop... OMIM:618697
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Cone Dystrophy 3
Macular atrophy, Cone/cone-rod dystrophy OMIM:602093
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Drusen, Choroidal neovascularization, Macular dystrophy, Vitelliform-like macula... OMIM:608161
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment OMIM:212550
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem... OMIM:619007
Pigmented Paravenous Chorioretinal Atrophy
Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy OMIM:172870
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Retinal detachment, Retinopathy ORPHA:90654
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi... OMIM:617123
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Macular degeneration OMIM:608194
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 9
Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy OMIM:180104
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Ophthalmoplegia, External, And Myopia
Retinal degeneration, Chorioretinal degeneration OMIM:311000
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Bothnia Retinal Dystrophy
Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular... ORPHA:85128
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Retinal dystrophy, Choriore... OMIM:251270
Retinitis Pigmentosa 37
Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy OMIM:611131
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinitis Pigmentosa 7
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v... OMIM:608133
Cone-Rod Dystrophy 16
Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ... OMIM:614500
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Exudative Vitreoretinopathy 2, X-Linked
Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret... OMIM:305390
Choroidal Dystrophy, Central Areolar 2
Photophobia, Chorioretinal atrophy OMIM:613105
Cataract 21, Multiple Types
Macular hypoplasia, Retinal detachment OMIM:610202
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Retinal degeneration, Cystoid macular degeneration OMIM:267760
Central Retinal Vein Occlusion
Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza... ORPHA:411527
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Cone-Rod Dystrophy, X-Linked, 3
Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,... OMIM:300476
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Neovascular Glaucoma
Abnormality of the optic nerve, Retinal vascular proliferation, Retinal vein occlusion, Abnormal ... ORPHA:94058
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Color vision defect, Nyctalopia, Visual impairment OMIM:607476
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy OMIM:614307
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e... OMIM:601718
Retinitis Pigmentosa 2
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312600
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Retinitis Pigmentosa 63
Blurred vision, Optic disc pallor, Nyctalopia, Rod-cone dystrophy OMIM:614494
Vitreoretinal Degeneration, Snowflake Type
Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia... OMIM:304020
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Choroideremia
Myopia, Abnormality of retinal pigmentation, Progressive visual loss, Abnormality of vision, Nyct... ORPHA:180
Optic Atrophy 6
Optic atrophy, Red-green dyschromatopsia, Photophobia, Visual impairment OMIM:258500
Cone-Rod Dystrophy 17
Optic disc pallor, Central scotoma, Photophobia, Cone/cone-rod dystrophy, Visual impairment OMIM:615163
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Central retinal exudate, Retinal hemorrhage OMIM:264420
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Idiopathic Uveal Effusion Syndrome
Exudative retinal detachment, Retinal fold, Subretinal fluid ORPHA:209956
Morm Syndrome
Retinal dystrophy, Retinal atrophy ORPHA:75858
Stickler Syndrome, Type V
Vitreoretinopathy, Retinal detachment OMIM:614284
Macular Dystrophy, Patterned, 1
Pattern dystrophy of the retina, Metamorphopsia, Choroidal neovascularization, Macular dystrophy,... OMIM:169150
Nephronophthisis 14
Retinal degeneration OMIM:614844
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Macular edema, Rod-cone dystrophy, Choriore... OMIM:613750
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Retinitis Pigmentosa 4
Rod-cone dystrophy, Pigmentary retinopathy OMIM:613731
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Iris coloboma OMIM:615147
Vitreoretinopathy, Neovascular Inflammatory
Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret... OMIM:193235
Nanophthalmos 4
Optic disc drusen, Reduced visual acuity, Visual impairment OMIM:615972
Retinitis Pigmentosa 78
Optic disc pallor, Reduced visual acuity, Visual field defect, Photopsia, Cystoid macular edema, ... OMIM:617433
Retinitis Pigmentosa 77
Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy OMIM:617304
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment OMIM:613093
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Optic disc hypoplasia, Hypoplasia of the fovea OMIM:613703
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Bietti Crystalline Dystrophy
Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig... ORPHA:41751
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal detach... OMIM:133780
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,... ORPHA:49382
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Cone-Rod Dystrophy 15
Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613660
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration OMIM:613767
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Microphthalmia, Isolated 5
Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat... OMIM:611040
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180100
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Familial Exudative Vitreoretinopathy
Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino... ORPHA:891
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Exudative Vitreoretinopathy 4
Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ... OMIM:601813
Retinitis Pigmentosa 85
Reduced visual acuity, Progressive night blindness, Rod-cone dystrophy OMIM:618345
Optic Atrophy 12
Optic atrophy, Optic disc pallor, Reduced visual acuity, Abnormal Ishihara plate test, Photophobi... OMIM:618977
Optic Atrophy 9
Optic atrophy, Reduced visual acuity, Paracentral scotoma, Red-green dyschromatopsia, Visual impa... OMIM:616289
Cone-Rod Dystrophy 20
Central scotoma, Reduced visual acuity, Constriction of peripheral visual field, Color vision def... OMIM:615973
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Retinitis Pigmentosa 41
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:612095
Retinitis Pigmentosa 60
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:613983
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment OMIM:127200
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Cone-Rod Dystrophy 12
Central scotoma, Bull's eye maculopathy, Reduced visual acuity, Color vision defect, Cone/cone-ro... OMIM:612657
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy OMIM:602271
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Nephronophthisis 15
Retinal degeneration OMIM:614845
Spinocerebellar Ataxia, Autosomal Recessive 29
Optic disc pallor, Retinal pigment epithelial mottling OMIM:619389
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co... ORPHA:215
Bietti Crystalline Corneoretinal Dystrophy
Retinal degeneration, Chorioretinal atrophy OMIM:210370
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Leber Congenital Amaurosis 2
Fundus atrophy, Pigmentary retinopathy OMIM:204100
Cone-Rod Dystrophy 3
Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin... OMIM:604116
Oguchi Disease
Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness, Rod-cone dystrophy ORPHA:75382
Retinitis Pigmentosa 46
Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612572
Retinitis Pigmentosa 20
Visual impairment, Rod-cone dystrophy, Attenuation of retinal blood vessels, Nyctalopia, Severely... OMIM:613794
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Macular dege... OMIM:256730
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment OMIM:157151
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on macular OCT, Retinal pig... OMIM:145350
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Ectopia Lentis Et Pupillae
Retinal detachment OMIM:225200
Norrie Disease
Optic atrophy, Retinal detachment, Retinal fold, Retinal dysplasia OMIM:310600
Leber Congenital Amaurosis 4
Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels OMIM:604393
Retinitis Pigmentosa 62
Optic disc pallor, Visual field defect, Nyctalopia, Rod-cone dystrophy OMIM:614181
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel... ORPHA:506353
Spondyloepiphyseal Dysplasia, Myopia, And Sensorineural Deafness
Retinal detachment OMIM:184000
Eales Disease
Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo... ORPHA:40923
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613756
Eem Syndrome
Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy ORPHA:1897
Facioscapulohumeral Muscular Dystrophy 1
Exudative retinal detachment, Facial palsy, Retinal telangiectasia OMIM:158900
Retinitis Pigmentosa 83
Vitreous floaters, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cystoid macular e... OMIM:618173
Cone-Rod Dystrophy 8
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c... OMIM:605549
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration OMIM:270200
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis OMIM:605808
Canavan Disease
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:141
Retinitis Pigmentosa 56
Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst... OMIM:613581
Bardet-Biedl Syndrome 21
Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy... OMIM:617406
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinitis Pigmentosa 26
Optic disc pallor, Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of re... OMIM:608380
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Autosomal Recessive Stickler Syndrome
Vitreoretinopathy, Retinal detachment ORPHA:250984
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Macular atrophy OMIM:602499
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Vitreoretinochoroidopathy
Abnormality of chorioretinal pigmentation, Retinal detachment, Vitreous hemorrhage, Retinal neova... OMIM:193220
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini... ORPHA:79435
Retinitis Pigmentosa 51
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:613464
Abetalipoproteinemia
Retinal degeneration, Retinopathy OMIM:200100
Stickler Syndrome, Type Ii
Abnormal vitreous humor morphology, Retinal detachment OMIM:604841
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy OMIM:616722
Retinitis Pigmentosa 43
Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,... OMIM:613810
Retinitis Pigmentosa 10
Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:180105
Retinitis Pigmentosa 79
Macular atrophy, Optic disc pallor OMIM:617460
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re... OMIM:613617
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluore... OMIM:204200
Cavitary Optic Disc Anomalies
Peripapillary atrophy, Reduced visual acuity, Nyctalopia, Visual field defect OMIM:611543
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Anti-Glomerular Basement Membrane Disease
Retinal detachment, Anemia ORPHA:375
Leber Congenital Amaurosis 15
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy OMIM:613843
Senior-Loken Syndrome
Retinal dystrophy, Abnormality of retinal pigmentation ORPHA:3156
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment ORPHA:90653
Microphthalmia, Isolated 8
Retinal detachment, Optic nerve hypoplasia OMIM:615113
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr... OMIM:602772
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Coloboma Of Macula
Macular coloboma OMIM:120300
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Optic disc pallor, Rod-cone dystrophy OMIM:615434
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormality of the optic disc ORPHA:65
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Leber Congenital Amaurosis 1
Fundus atrophy, Pigmentary retinopathy OMIM:204000
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Retinopathy, Generalized hyperpigmentation, Macular degenera... ORPHA:816
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Macular atrophy, Optic disc pallor, Cerebellar atrophy, Retinopathy, Cerebral atrophy OMIM:616171
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Chorioretinal coloboma OMIM:617662
Cone-Rod Dystrophy 2
Macular hyperpigmentation, Metamorphopsia, Central scotoma, Bone spicule pigmentation of the reti... OMIM:120970
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Exudative re... ORPHA:2788
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia OMIM:615181
Retinal Cone Dystrophy 3B
Macular atrophy, Cone/cone-rod dystrophy OMIM:610356
Antiphospholipid Syndrome, Familial
Central retinal artery occlusion, Retinal detachment, Autoimmune thrombocytopenia, Retinal vascul... OMIM:107320
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Coats Disease
Exudative retinal detachment, Retinal telangiectasia OMIM:300216
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Retinitis Punctata Albescens
Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab... ORPHA:52427
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation ORPHA:1390
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-... OMIM:600132
Bardet-Biedl Syndrome 3
Rod-cone dystrophy, Pigmentary retinopathy OMIM:600151
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Papillorenal Syndrome
Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Gliosis, Optic disc coloboma,... OMIM:120330
Severe Early-Childhood-Onset Retinal Dystrophy
Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul... ORPHA:364055
Poretti-Boltshauser Syndrome
Retinal dystrophy, Retinal thinning, Retinal atrophy OMIM:615960
Enhanced S-Cone Syndrome
Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy OMIM:268100
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment OMIM:613153
Achondrogenesis Type 2
Abnormal vitreous humor morphology, Retinal detachment ORPHA:93296
Oculocutaneous Albinism Type 1
Blue irides, Abnormality of visual evoked potentials, Hypoplasia of the fovea, Generalized hypopi... ORPHA:352731
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Retinal detachment OMIM:223330
Nance-Horan Syndrome
Retinal detachment ORPHA:627
Retinal Venous Beading
Retinal neovascularization, Abnormal distribution of retinal arterioles and venules, Retinal infa... OMIM:180080
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Aganglionic megacolon, White eyelashes, White forelock, Abno... ORPHA:897
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Vogt-Koyanagi-Harada Disease
Retinal detachment ORPHA:3437
Oculocutaneous Albinism Type 1B
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre... ORPHA:79434
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Optic atrophy, Retinal fold, Chorioretinal dysplasia, Chorioretinal lacunae, Retinal detachment OMIM:152950
Narp Syndrome
Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d... ORPHA:644
Retinitis Pigmentosa
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy ORPHA:791
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment ORPHA:1856
Megalocornea
Retinal detachment OMIM:309300
Uveal Melanoma
Abnormal fundus morphology, Retinal detachment, Vitreous hemorrhage ORPHA:39044
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Retinal dystrophy, Photophobia, Optic disc pallor OMIM:616079
Cone-Rod Dystrophy 10
Cone/cone-rod dystrophy, Rod-cone dystrophy, Macular degeneration OMIM:610283
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Neuronal loss in central nerv... OMIM:610127
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov... ORPHA:79432
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Stiff Skin Syndrome
Retinal detachment ORPHA:2833
Donnai-Barrow Syndrome
Retinal dystrophy, Retinal detachment ORPHA:2143
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Acute Zonal Occult Outer Retinopathy
Abnormal fundus fluorescein angiography, Central scotoma, Retinal pigment epithelial mottling, Ro... ORPHA:284454
Scheie Syndrome
Retinal degeneration OMIM:607016
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of... OMIM:615986
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia OMIM:613154
Hypotrichosis With Juvenile Macular Degeneration
Freckling, Abnormality of macular pigmentation, Macular degeneration, Melanocytic nevus ORPHA:1573
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Cutis Marmorata Telangiectatica Congenita
Retinal detachment OMIM:219250
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium... ORPHA:67042
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Cerebral cortical atrophy... OMIM:604360
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Fundus Albipunctatus
Retinal flecks, Nyctalopia, Fundus albipunctatus OMIM:136880
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Retinal detachment ORPHA:3218
Retinitis Pigmentosa 66
Optic disc pallor, Central scotoma, Reduced visual acuity, Rod-cone dystrophy, Constriction of pe... OMIM:615233
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Retinal detachment OMIM:609616
Spondylo-Ocular Syndrome
Retinal detachment ORPHA:85194
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment OMIM:615145
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Senior-Loken Syndrome 9
Retinal dystrophy, Rod-cone dystrophy, Macular degeneration OMIM:616629
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Cone/cone-rod dystrophy, Retinal degeneration OMIM:249270
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Abnormal chorioretinal morphology, Retinopathy, Chorioretina... ORPHA:5
Aceruloplasminemia
Retinal degeneration OMIM:604290
Optic Atrophy 8
Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab... OMIM:616648
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,... OMIM:609033
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Retinal dysplasia ORPHA:324416
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy ORPHA:370968
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Smith-Magenis Syndrome
Retinal detachment OMIM:182290
Knobloch Syndrome 1
Cerebellar atrophy, Vitreoretinopathy, Peripapillary atrophy, Macular hypoplasia, Retinal detachm... OMIM:267750
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Autosomal Recessive Spastic Paraplegia Type 15
Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy ORPHA:100996
Bardet-Biedl Syndrome 17
Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph... OMIM:615994
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E... OMIM:616959
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Spondyloepiphyseal Dysplasia, Nishimura Type
Retinal detachment, Hypopigmentation of the fundus ORPHA:163649
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy OMIM:256000
Lipodystrophy, Familial Partial, Type 7
Orthostatic hypotension, Pigmentary retinopathy OMIM:606721
Leber Congenital Amaurosis 9
Optic atrophy, Optic disc pallor, Macular coloboma, Attenuation of retinal blood vessels, Photoph... OMIM:608553
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Patent ductus arteriosus ORPHA:290
Werner Syndrome
Retinal degeneration OMIM:277700
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal dystrophy, Retinal atrophy ORPHA:370022
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy ORPHA:578
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Retinal degeneration, Ce... OMIM:619260
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Chorioretinal coloboma, Generalized hyperpigmentation, Melan... ORPHA:2481
Walker-Warburg Syndrome
Abnormality of the optic nerve, Optic atrophy, Retinal dysplasia, Retinal dystrophy, Chorioretina... ORPHA:899
Spondyloocular Syndrome
Retinal detachment OMIM:605822
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Spastic Paraplegia 15, Autosomal Recessive
Retinal degeneration, Macular degeneration OMIM:270700
Refsum Disease, Classic
Retinal degeneration, Rod-cone dystrophy OMIM:266500
Paget Disease Of Bone 5, Juvenile-Onset
Retinal degeneration, Retinopathy, Macular scar, Angioid streaks of the fundus OMIM:239000
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Optic nerve hypoplasia, Optic atrophy ORPHA:370959
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Macular coloboma, Retinal coloboma OMIM:107550
Stickler Syndrome, Type I
Retinal detachment, Membranous vitreous appearance OMIM:108300
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Pigmentary retinopathy OMIM:613156
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains... ORPHA:1215
Cone-Rod Dystrophy 6
Macular atrophy, Reduced visual acuity, Hemeralopia, Progressive night blindness, Peripheral visu... OMIM:601777
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Rod-cone dystrophy, Pigmentary retinopathy OMIM:268020
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Cerebellar atrophy, Neurodegeneration, Ne... OMIM:256600
Oculocutaneous Albinism Type 1A
Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,... ORPHA:79431
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Kniest Dysplasia
Retinal detachment OMIM:156550
Donnai-Barrow Syndrome
Retinal dystrophy, Retinal detachment OMIM:222448
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment OMIM:607143
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Retinal degeneration, Pigmentary retinopathy, Cerebral atr... ORPHA:79264
Joubert Syndrome 3
Retinal dystrophy, Pigmentary retinopathy OMIM:608629
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Joubert Syndrome 6
Chorioretinal coloboma, Retinal degeneration OMIM:610688
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Joubert Syndrome 16
Coloboma, Retinal dystrophy OMIM:614465
Sturge-Weber Syndrome
Optic atrophy, Abnormal retinal vascular morphology, Retinal detachment, Abnormal choroid morphol... ORPHA:3205
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Global brain atrophy, Retinal detachment, Frontal cortic... ORPHA:2714
Kniest Dysplasia
Rhegmatogenous retinal detachment, Vitreoretinopathy, Degenerative vitreoretinopathy, Retinal det... ORPHA:485
Hsd10 Disease, Infantile Type
Frontotemporal cerebral atrophy, Optic atrophy, Retinal degeneration, Neurodegeneration, Rod-cone... ORPHA:391428
Vici Syndrome
Hypopigmentation of the skin, Optic atrophy, Abnormality of retinal pigmentation, Abnormal macula... ORPHA:1493
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Optic atrophy OMIM:274270
Night Blindness, Congenital Stationary, Type 1A
Myopia, Hemeralopia, High myopia, Congenital stationary night blindness OMIM:310500
Severe Oculo-Renal-Cerebellar Syndrome
Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retinal pigmenta... ORPHA:2715
Proteus-Like Syndrome
Retinal detachment, Thymus hyperplasia, Splenomegaly ORPHA:2969
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Night Blindness, Congenital Stationary, Type 1B
Myopia, Hemeralopia, Nyctalopia, Congenital stationary night blindness OMIM:257270
Oculoauricular Syndrome
Chorioretinal coloboma, Morning glory anomaly, Retinal coloboma, Rod-cone dystrophy, Macular hypo... OMIM:612109
Zika Virus Disease
Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial... ORPHA:448237
Oculofaciocardiodental Syndrome
Retinal detachment ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Remnants of the hyaloid vascular system, Retinal detachment, Optic nerve hypoplasia, Retinal dysp... OMIM:614643
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... ORPHA:2510
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Pigmentary retino... OMIM:560000
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Incontinentia Pigmenti
Optic atrophy, Leukocytosis, Hypoplasia of the fovea, Retinal vascular proliferation, Retinal det... OMIM:308300
Joubert Syndrome 22
Coloboma, Retinal dysplasia OMIM:615665
Spondyloepiphyseal Dysplasia Congenita
Vitreoretinopathy, Retinal detachment OMIM:183900
Knobloch Syndrome
Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment, Macular degeneration ORPHA:1571
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of the retina, Rod-cone dys... ORPHA:88628
Smith-Magenis Syndrome
Retinal detachment ORPHA:819
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Marshall Syndrome
Vitreoretinopathy, Abnormal vitreous humor morphology, Retinal detachment ORPHA:560
Refsum Disease
Abnormality of retinal pigmentation, Retinopathy ORPHA:773
Mucolipidosis Iii Alpha/Beta
Retinal degeneration, Retinopathy OMIM:252600
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Retinal degeneration, Abnormal amplitude of flash visual... ORPHA:168491
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Coloboma, Retinal degeneration OMIM:615249
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Retinal degeneration OMIM:615630
Nephronophthisis 11
Retinal degeneration OMIM:613550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal detachment, Retinal dysplasia OMIM:253800
Marshall Syndrome
Vitreoretinopathy, Retinal detachment OMIM:154780
Multiple Sulfatase Deficiency
Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation ORPHA:585
Senior-Loken Syndrome 8
Macular atrophy OMIM:616307
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Retinal degeneration, Abnormality of pattern visual evoked potentials, Rod-cone dystrophy, Cafe-a... ORPHA:166035
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Brain atrophy, Retinal degeneration, Cerebral atrophy ORPHA:442835
Oguchi Disease 1
Hemeralopia, Congenital stationary night blindness OMIM:258100
Persistent Hyperplastic Primary Vitreous
Retinal fold, Tractional retinal detachment, Glial remnants anterior to the optic disc, Macular h... ORPHA:91495
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Retinal detachment ORPHA:521445
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment ORPHA:94068
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:2235
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Macular atrophy, Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, ... ORPHA:85167
Xeroderma Pigmentosum, Complementation Group B
Freckling, Optic atrophy, Decreased nerve conduction velocity, Pigmentary retinopathy OMIM:610651
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized hypopigmentation, M... ORPHA:1969
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potentials OMIM:125310
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of the optic nerve, Abnormality of retinal pigmentation, Optic atrophy, Retinal dyspl... ORPHA:2526
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic atrophy, Retinal dysplasia, Optic nerve hypoplasia, Retinal detachment, Retinal atrophy OMIM:236670
Aceruloplasminemia
Abnormality of retinal pigmentation, Retinal degeneration, Macular degeneration ORPHA:48818
Brittle Cornea Syndrome
Retinal detachment ORPHA:90354
Cohen Syndrome
Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys... OMIM:216550
Cysticercosis
Retinal detachment, Abnormality of optic chiasm morphology, Chorioretinitis ORPHA:1560
Classic Homocystinuria
Retinal detachment, Abnormality of retinal pigmentation, Optic atrophy ORPHA:394
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Incontinentia Pigmenti
Retinal vascular proliferation, Retinal detachment, Eosinophilia, Abnormal chorioretinal morpholo... ORPHA:464
Seckel Syndrome 10
Retinal detachment, Elevated hemoglobin A1c OMIM:617253
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Retinal degeneration ORPHA:79244
Aicardi Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Chorioretinal coloboma, Optic disc coloboma, ... ORPHA:50
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, Optic disc pallor, Abnormality of visua... OMIM:601152
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Remnants of the hyaloid vascular system, Retinal nonattachment, Retinal fold OMIM:221900
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy ORPHA:3208
Pseudoxanthoma Elasticum
Retinal hemorrhage, Choroidal neovascularization, Optic disc drusen, Macular degeneration, Retina... OMIM:264800
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy ORPHA:168549
Von Hippel-Lindau Disease
Retinal capillary hemangioma, Polycythemia, Macular edema, Papilledema, Retinal detachment, Hyper...