Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
rhodopsin
Synonyms:
L opsin,  Long Wavelength Sensitive opsin,  RP4,  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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Cone-Rod Dystrophy, X-Linked, 2
Cone dystrophy, Cone/cone-rod 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
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen OMIM:267800
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 48
Rod-cone dystrophy, Macular degeneration OMIM:613827
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Cone-Rod Dystrophy 9
Visual impairment, Cone/cone-rod dystrophy OMIM:612775
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Rod-cone dystrophy, Macular atrophy OMIM:617111
Cone-Rod Dystrophy 7
Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular atrophy OMIM:603649
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration OMIM:616118
Stargardt Disease 4
Macular degeneration, Retinal flecks OMIM:603786
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Macular Degeneration, X-Linked Atrophic
Macular degeneration OMIM:300834
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Macular dystrophy, Peripheral retinal atrophy, Drusen OMIM:136550
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Stargardt Disease 3
Macular dystrophy, Macular flecks, Macular atrophy OMIM:600110
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Leber Congenital Amaurosis 13
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:612712
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Retinal degeneration OMIM:618513
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Macular dystrophy, Granular macular appearance, Retinal... OMIM:608051
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid OMIM:153700
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:609923
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration OMIM:617879
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy OMIM:608850
Retinitis Pigmentosa Inversa With Deafness
Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:615990
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Choroidal Dystrophy, Central Areolar, 3
Chorioretinal atrophy, Drusen OMIM:613144
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
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
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Drusen OMIM:608970
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Retinal detachment, Cone dystrophy, Cone/cone-rod dystrophy OMIM:304030
Retinitis Pigmentosa 70
Optic disc pallor, Retinal degeneration, Rod-cone dystrophy OMIM:615922
Late-Onset Retinal Degeneration
Sub-RPE deposits, Retinopathy, Retinal degeneration, Rod-cone dystrophy OMIM:605670
Cone-Rod Dystrophy 22
Perifoveal ring of hyperautofluorescence, Absent foveal reflex, Hypoautofluorescent retinal lesio... OMIM:619531
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613809
Choroideremia
Granular macular appearance, Choroideremia, Retinal pigment epithelial mottling, Chorioretinal at... OMIM:303100
Liberfarb Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal degeneration, Bone spicule pigmen... OMIM:618889
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Cone-Rod Dystrophy 11
Macular atrophy, Bull's eye maculopathy, Macular degeneration, Cone/cone-rod dystrophy OMIM:610381
Sorsby Pseudoinflammatory Fundus Dystrophy
Abnormal fundus autofluorescence imaging, Subretinal deposits, Yellow/white lesions of the macula... ORPHA:59181
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Visual field defect, Choroideremia, Color vision defect, Metamorpho... ORPHA:1243
Retinitis Pigmentosa 38
Optic disc pallor, Peripheral retinal atrophy, Rod-cone dystrophy, Macular atrophy OMIM:613862
Homocarnosinosis
Abnormality of retinal pigmentation, Abnormality of skin pigmentation OMIM:236130
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Optic disc pallor, Central scotoma, Visual impairment, Macular dystrophy, ... OMIM:616170
Retinitis Pigmentosa 33
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:610359
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Retinitis Pigmentosa 68
Retinal atrophy, Rod-cone dystrophy OMIM:615725
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Retinitis Pigmentosa 69
Abnormality of retinal pigmentation, Pigmentary retinopathy, Rod-cone dystrophy OMIM:615780
Central Areolar Choroidal Dystrophy
Perifoveal ring of hyperautofluorescence, Full-thickness macular hole, Absent retinal pigment epi... ORPHA:75377
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Retinitis Pigmentosa 30
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic atrophy, B... OMIM:607921
Congenital Glaucoma
Retinal detachment ORPHA:98976
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinopathy Of Prematurity
Vitreous hemorrhage, Abnormal retinal vascular morphology, Abnormal macular morphology, Tractiona... ORPHA:90050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy OMIM:609021
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Chorioretinal atrophy, Exudative vitreoretinopathy, Retinal detach... OMIM:616468
Bothnia Retinal Dystrophy
Macular degeneration, Retinal dystrophy OMIM:607475
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Retinal degeneration, Attenuation of retinal blood vesse... OMIM:609913
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:613758
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Irvan Syndrome
Macular edema, Retinal detachment, Optic atrophy, Vitreous floaters, Tractional retinal detachmen... ORPHA:209943
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Retinal exudate, Tractional retinal detachment OMIM:613310
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Optic atrophy, Cranial nerve compression, Macular atrophy OMIM:250450
Retinitis Pigmentosa 80
Macular atrophy OMIM:617781
Ceroid Lipofuscinosis, Neuronal, 2
Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Increased... OMIM:204500
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Bestrophinopathy, Autosomal Recessive
Retinal flecks, Retinal pigment epithelial atrophy OMIM:611809
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Peripheral tractional retinal detachment, Chorioretinal atrophy, Vit... OMIM:143200
Macular Dystrophy, Vitelliform, 1
Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Macular Dystrophy, Vitelliform, 5
Reduced visual acuity, Vitelliform-like macular lesions, Moderately reduced visual acuity, Centra... OMIM:616152
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ro... OMIM:613428
Retinitis Pigmentosa 84
Macular coloboma, Rod-cone dystrophy, Macular atrophy OMIM:618220
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:614180
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 11
Perifoveal ring of hyperautofluorescence, Rod-cone dystrophy, Macular degeneration, Macular edema... OMIM:600138
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Rod-cone dystrophy OMIM:613801
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Hyperautofluorescent macular lesion, Retinal atrophy, Re... OMIM:618144
Stickler Syndrome, Type I, Nonsyndromic Ocular
Optically empty vitreous, Rhegmatogenous retinal detachment OMIM:609508
Retinal Dystrophy And Obesity
Retinal detachment, Peripapillary atrophy, Retinal dystrophy, Retinal pigment epithelial atrophy OMIM:616188
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular pigmentation of the fund... OMIM:618697
Adult-Onset Foveomacular Vitelliform Dystrophy
Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions ORPHA:99000
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Lattice retinal degeneration, Rhegmatogenous retinal detachment OMIM:619248
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy OMIM:602093
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Choroidal neovascularization, Macular atrophy, Macular dystroph... OMIM:608161
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Chorioretinal coloboma, Retinal dystrophy, Macular atrophy OMIM:212550
Retinitis Pigmentosa 90
Cystoid macular edema, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, ... OMIM:619007
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Stickler Syndrome Type 2
Retinopathy, Retinal detachment, Abnormal vitreous humor morphology ORPHA:90654
Retinitis Pigmentosa 76
Cystoid macular edema, Retinal thinning, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:617123
Coats Disease
Abnormal macular morphology, Retinal detachment, Abnormal retinal vascular morphology ORPHA:190
Cone-Rod Dystrophy 13
Macular degeneration, Cone/cone-rod dystrophy OMIM:608194
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy, Macular atrophy OMIM:180104
Retinitis Pigmentosa 73
Retinal atrophy, Rod-cone dystrophy OMIM:616544
Spinocerebellar Ataxia, Autosomal Recessive 12
Optic atrophy, Retinal degeneration OMIM:614322
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Retinitis Pigmentosa 88
Cystoid macular edema, Macular degeneration, Attenuation of retinal blood vessels, Optic disc pal... OMIM:618826
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Retinal degeneration OMIM:311000
Bothnia Retinal Dystrophy
Increased OCT-measured foveal thickness, Retinal degeneration, Macular degeneration, Abnormal fov... ORPHA:85128
Retinitis Pigmentosa 28
Bone spicule pigmentation of the retina, Optic disc pallor, Rod-cone dystrophy OMIM:606068
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Abnormality of retinal pigmentation, Cerebral atrophy, Retinal detachment, Retinal dystrophy, Opt... OMIM:251270
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:611131
Retinitis Pigmentosa 7
Chorioretinal atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dys... OMIM:608133
Cone-Rod Dystrophy 16
Rod-cone dystrophy, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Optic disc pal... OMIM:614500
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy OMIM:551500
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Retinal degeneration, Macular atrophy OMIM:267760
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Microspherophakia With Hernia
Retinal detachment OMIM:157150
Choroidal Dystrophy, Central Areolar 2
Photophobia, Chorioretinal atrophy OMIM:613105
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Central Retinal Vein Occlusion
Cystoid macular edema, Macular degeneration, Papilledema, Macular edema, Retinal neovascularizati... ORPHA:411527
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Abnormality of macular pigmentation, Retinal detachment, Cone/cone-rod dyst... OMIM:300476
Stickler Syndrome, Type V
Retinal detachment, Vitreoretinopathy OMIM:614284
Neovascular Glaucoma
Abnormal posterior eye segment morphology, Retinal vascular proliferation, Retinal detachment, Ab... ORPHA:94058
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Peripheral vitreoretinal degeneration OMIM:614292
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Color vision defect, Retinal dystrophy, Scotoma, Visual impairment OMIM:607476
Retinitis Pigmentosa 19
Rod-cone dystrophy, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Opt... OMIM:601718
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Retinitis Pigmentosa 63
Optic disc pallor, Blurred vision, Nyctalopia, Rod-cone dystrophy OMIM:614494
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate OMIM:264420
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Retinitis Pigmentosa 6
Chorioretinal degeneration, Pigmentary retinopathy, Rod-cone dystrophy OMIM:312612
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Choroideremia
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment, Progressive visual loss, Abno... ORPHA:180
Cone-Rod Dystrophy, X-Linked, 1
Retinal pigment epithelial mottling, Hypoautofluorescent macular lesion, Retinal pigment epitheli... OMIM:304020
Nephronophthisis 14
Retinal degeneration OMIM:614844
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Morm Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:75858
Optic Atrophy 6
Optic atrophy, Visual impairment, Red-green dyschromatopsia, Photophobia OMIM:258500
Cone-Rod Dystrophy 17
Photophobia, Cone/cone-rod dystrophy, Optic disc pallor, Central scotoma, Visual impairment OMIM:615163
Idiopathic Uveal Effusion Syndrome
Retinal fold, Subretinal fluid, Exudative retinal detachment ORPHA:209956
Microphthalmia, Isolated, With Coloboma 6
Coloboma, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy OMIM:616502
Retinitis Pigmentosa 27
Rod-cone dystrophy, Chorioretinal atrophy, Macular edema, Peripapillary chorioretinal atrophy, Ma... OMIM:613750
Macular Dystrophy, Patterned, 1
Photophobia, Reticular retinal dystrophy, Nyctalopia, Dark choroid, Choroidal neovascularization,... OMIM:169150
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Retinopathy, Pigmentary retinopathy OMIM:610951
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Peripheral retinal atrophy, Absent foveal reflex, Iris coloboma, Retinal dystrophy OMIM:615147
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment ORPHA:436182
Retinitis Pigmentosa 4
Pigmentary retinopathy, Rod-cone dystrophy OMIM:613731
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinitis Pigmentosa 77
Retinal atrophy, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Retinitis Pigmentosa 78
Visual field defect, Cystoid macular edema, Nyctalopia, Reduced visual acuity, Optic disc pallor,... OMIM:617433
Vitreoretinopathy, Neovascular Inflammatory
Vitreous hemorrhage, Peripheral retinal neovascularization, Retinal detachment, Vitreoretinopathy... OMIM:193235
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Retinitis Pigmentosa 86
Cystoid macular edema, Nummular pigmentation of the fundus, Attenuation of retinal blood vessels,... OMIM:618613
Cone Dystrophy 4
Photophobia, Reduced visual acuity, Cone/cone-rod dystrophy, Visual impairment, Dyschromatopsia OMIM:613093
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration OMIM:616211
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Cone/cone-rod dystrophy OMIM:610478
Bietti Crystalline Dystrophy
Subretinal deposits, Cystoid macular edema, Retinal pigment epithelial mottling, Retinal thinning... ORPHA:41751
Cone-Rod Dystrophy 15
Attenuation of retinal blood vessels, Rod-cone dystrophy, Retinal pigment epithelial atrophy OMIM:613660
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystrophy OMIM:613767
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Microspherophakia-Metaphyseal Dysplasia
Retinal detachment OMIM:157151
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Ectopia Lentis Et Pupillae
Retinal detachment OMIM:225200
Morning Glory Disc Anomaly
Abnormality of retinal pigmentation, Retinal detachment, Optic disc coloboma ORPHA:35737
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Abnormal foveal morphology, Rod-cone dystrophy, Optic disc d... OMIM:611040
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Familial Exudative Vitreoretinopathy
Vitreous hemorrhage, Rhegmatogenous retinal detachment, Peripheral retinal avascularization, Chor... ORPHA:891
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Rod-cone dystrophy, Constriction of peripheral visual fiel... OMIM:616389
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, Color vision defect, Reduced visual acuity, Cone/cone-ro... OMIM:615973
Bardet-Biedl Syndrome 16
Retinal degeneration, Rod-cone dystrophy OMIM:615993
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:601813
Retinitis Pigmentosa 85
Reduced visual acuity, Rod-cone dystrophy, Progressive night blindness OMIM:618345
Macular Degeneration, Age-Related, 3
Choroidal neovascularization, Macular degeneration, Drusen OMIM:608895
Retinitis Pigmentosa 41
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retino... OMIM:612095
Optic Atrophy 12
Photophobia, Reduced visual acuity, Abnormal Ishihara plate test, Optic atrophy, Optic disc pallo... OMIM:618977
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Retinal degeneration OMIM:210370
Optic Atrophy 9
Red-green dyschromatopsia, Reduced visual acuity, Optic atrophy, Paracentral scotoma, Visual impa... OMIM:616289
Retinitis Pigmentosa 92
Pigmentary retinopathy OMIM:619614
Dwarfism With Stiff Joints And Ocular Abnormalities
Retinal detachment OMIM:127200
Ceroid Lipofuscinosis, Neuronal, 3
Retinal degeneration, Macular degeneration, Cerebral atrophy, Rod-cone dystrophy, Increased extra... OMIM:204200
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Retinitis Pigmentosa 1
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:180100
Nephronophthisis 15
Retinal degeneration OMIM:614845
Cone-Rod Dystrophy 12
Nyctalopia, Color vision defect, Reduced visual acuity, Cone/cone-rod dystrophy, Central scotoma,... OMIM:612657
Spinocerebellar Ataxia, Autosomal Recessive 29
Retinal pigment epithelial mottling, Optic disc pallor OMIM:619389
Leber Congenital Amaurosis 2
Absent foveal reflex, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atroph... OMIM:204100
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Retinal detachment, Chorioretinal coloboma ORPHA:1473
Oguchi Disease
Mizuo phenomenon, Congenital stationary night blindness, Macular degeneration, Rod-cone dystrophy ORPHA:75382
Congenital Stationary Night Blindness
Congenital stationary night blindness with normal fundus, Abnormality of retinal pigmentation, Re... ORPHA:215
Cone-Rod Dystrophy 3
Attenuation of retinal blood vessels, Pigmentary retinopathy, Cone/cone-rod dystrophy, Optic disc... OMIM:604116
Ceroid Lipofuscinosis, Neuronal, 5
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Cerebellar atrophy OMIM:256731
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Macular degeneration, Optic atrophy, Increased neuronal a... OMIM:256730
Leber Congenital Amaurosis 9
Retinal pigment epithelial mottling, Macular coloboma, Attenuation of retinal blood vessels, Opti... OMIM:608553
Leber Congenital Amaurosis 8
Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopathy, Choriocapilla... OMIM:613835
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Abnormality of retinal pigmentation ORPHA:2743
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy OMIM:615982
Retinitis Pigmentosa 58
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:613617
Retinitis Pigmentosa 20
Nyctalopia, Rod-cone dystrophy, Attenuation of retinal blood vessels, Visual impairment, Severely... OMIM:613794
Retinitis Pigmentosa 46
Optic disc pallor, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:612572
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial mottling, Peripheral retinal ... OMIM:145350
Leber Congenital Amaurosis 4
Optic disc pallor, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Macular atrophy OMIM:604393
Retinitis Pigmentosa 12
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:600105
Retinitis Pigmentosa 62
Optic disc pallor, Visual field defect, Rod-cone dystrophy, Nyctalopia OMIM:614181
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Pigmentary retinopathy OMIM:619090
Retinitis Pigmentosa 10
Rod-cone dystrophy, Attenuation of retinal blood vessels, Geographic atrophy, Optic disc pallor, ... OMIM:180105
Bardet-Biedl Syndrome 2
Retinal degeneration, Rod-cone dystrophy OMIM:615981
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy OMIM:602271
Bornholm Eye Disease
Optic nerve hypoplasia, Abnormality of retinal pigmentation OMIM:300843
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Optic disc pallor, Attenuation of retinal blood vessels,... OMIM:613756
Eales Disease
Vitreous hemorrhage, Cystoid macular edema, Rhegmatogenous retinal detachment, Subhyaloid hemorrh... ORPHA:40923
Retinitis Pigmentosa 3
Photophobia, Perifoveal hypoautofluorescence, Ring scotoma, Nyctalopia, Rod-cone dystrophy, Const... OMIM:300029
Facioscapulohumeral Muscular Dystrophy 1
Retinal telangiectasia, Facial palsy, Exudative retinal detachment OMIM:158900
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Retinal arteriolar constriction, Macular degeneration, Cone/... OMIM:605549
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:613464
Retinitis Pigmentosa 83
Cystoid macular edema, Rod-cone dystrophy, Attenuation of retinal blood vessels, Asteroid hyalosi... OMIM:618173
Retinitis Pigmentosa 26
Rod-cone dystrophy, Constriction of peripheral visual field, Attenuation of retinal blood vessels... OMIM:608380
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Birdshot Chorioretinopathy
Vitritis, Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy OMIM:605808
Bardet-Biedl Syndrome 21
Rod-cone dystrophy, Retinal thinning, Hypoplasia of the fovea, Cone/cone-rod dystrophy, Retinal a... OMIM:617406
Retinitis Pigmentosa 56
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal pigment... OMIM:613581
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Optic disc pallor, Central sco... OMIM:616079
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Macular atrophy OMIM:602499
Laurence-Moon Syndrome
Pigmentary retinopathy OMIM:245800
Autosomal Recessive Stickler Syndrome
Retinal detachment, Vitreoretinopathy ORPHA:250984
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Spinocerebellar Ataxia 7
Optic atrophy, Pigmentary retinopathy, Macular degeneration OMIM:164500
Retinitis Pigmentosa 2
Rod-cone dystrophy, Pigmentary retinopathy, Fundus atrophy, Chorioretinal degeneration, Bull's ey... OMIM:312600
Vitreoretinochoroidopathy
Vitreous hemorrhage, Retinal arteriolar constriction, Retinal detachment, Retinal neovascularizat... OMIM:193220
Retinitis Pigmentosa 79
Optic disc pallor, Macular atrophy OMIM:617460
Stickler Syndrome, Type Ii
Retinal detachment, Abnormal vitreous humor morphology OMIM:604841
Retinitis Pigmentosa 43
Rod-cone dystrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Optic disc pall... OMIM:613810
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of the skin, Hypopigmentat... ORPHA:79435
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Joint Laxity, Short Stature, And Myopia
Retinal detachment, Chorioretinal coloboma OMIM:617662
Cavitary Optic Disc Anomalies
Visual field defect, Peripapillary atrophy, Nyctalopia, Reduced visual acuity OMIM:611543
Microphthalmia, Isolated 8
Retinal coloboma, Optic nerve hypoplasia, Retinal detachment, Hypoplastic optic chiasm OMIM:615113
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610283
Leber Congenital Amaurosis 15
Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy, Optic disc pallor OMIM:613843
Stickler Syndrome Type 1
Retinal detachment, Abnormal vitreous humor morphology ORPHA:90653
Blindness-Scoliosis-Arachnodactyly Syndrome
Abnormality of retinal pigmentation, Retinal detachment ORPHA:171844
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Anti-Glomerular Basement Membrane Disease
Anemia, Retinal detachment ORPHA:375
Retinitis Pigmentosa 74
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy OMIM:616562
Retinitis Pigmentosa 25
Rod-cone dystrophy, Chorioretinal atrophy, Attenuation of retinal blood vessels, Optic disc pallo... OMIM:602772
Leber Congenital Amaurosis 1
Optic disc drusen, Attenuation of retinal blood vessels, Pigmentary retinopathy, Fundus atrophy OMIM:204000
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
Coloboma Of Macula
Macular coloboma OMIM:120300
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Retinopathy, Optic atrophy, Optic disc pallor, Cerebellar atrophy, Macular atrophy OMIM:616171
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Cone-Rod Dystrophy 2
Nyctalopia, Constriction of peripheral visual field, Color vision defect, Chorioretinal atrophy, ... OMIM:120970
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Iris coloboma, Retinal atrophy OMIM:616722
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Retinal detachment OMIM:615181
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Macular atrophy OMIM:610356
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Pigmentary retinopathy, Rod-cone dystrophy OMIM:264470
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Exudative retinopathy, Retinal detachment, Abnormal vitreous humor m... ORPHA:2788
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation ORPHA:397951
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Achondrogenesis Type 2
Retinal detachment, Abnormal vitreous humor morphology ORPHA:93296
Retinopathy, Pigmentary, And Mental Retardation
Pigmentary retinopathy OMIM:268050
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Coats Disease
Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Antiphospholipid Syndrome, Familial
Retinal detachment, Autoimmune thrombocytopenia, Retinal vasculitis, Central retinal artery occlu... OMIM:107320
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Rod-cone dystrophy OMIM:600151
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation ORPHA:1433
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Severe Early-Childhood-Onset Retinal Dystrophy
Granular macular appearance, Abnormality of retinal pigmentation, Retinal degeneration, Rhegmatog... ORPHA:364055
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Macular degeneration OMIM:617236
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1466
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Heterochromia iridis ORPHA:1390
Retinitis Pigmentosa 14
Bone spicule pigmentation of the retina, Optic disc pallor, Retinal arteriolar constriction, Rod-... OMIM:600132
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Retinal dystrophy OMIM:615960
Retinitis Punctata Albescens
Absent foveal reflex, Cystoid macular edema, Abnormality of fundus pigmentation, Retinal pigment ... ORPHA:52427
Nance-Horan Syndrome
Retinal detachment ORPHA:627
Retinal Venous Beading
Abnormal distribution of retinal arterioles and venules, Retinal infarction, Vitreous hemorrhage,... OMIM:180080
Oculocutaneous Albinism Type 1
Blue irides, Generalized hypopigmentation, Abnormality of visual evoked potentials, Hypoplasia of... ORPHA:352731
Diverticulosis Of Bowel, Hernia, And Retinal Detachment
Retinal detachment OMIM:223330
Uveal Melanoma
Vitreous hemorrhage, Retinal detachment, Abnormal fundus morphology ORPHA:39044
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation of hair, White... ORPHA:897
Enhanced S-Cone Syndrome
Retinoschisis, Macular edema, Pigmentary retinopathy, Vitreoretinopathy OMIM:268100
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Megalocornea
Retinal detachment OMIM:309300
Vogt-Koyanagi-Harada Disease
Retinal detachment ORPHA:3437
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Narp Syndrome
Retinal pigment epithelial mottling, Optic disc pallor, Retinal arteriolar tortuosity, Rod-cone d... ORPHA:644
Mucolipidosis Iv
Optic atrophy, Retinal degeneration OMIM:252650
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Retinal detachment, Optic atrophy, Retinal fold, Chorioretinal dysplasia, Chorioretinal lacunae OMIM:152950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, Hypo... ORPHA:79434
Retinitis Pigmentosa 72
Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigment... OMIM:616469
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Retinal pigment epithelial atrophy, Macular crystals, Mac... OMIM:270200
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Retinal detachment ORPHA:1856
Hsd10 Mitochondrial Disease
Optic atrophy, Retinal degeneration OMIM:300438
Retinitis Pigmentosa
Optic atrophy, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology ORPHA:791
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy ORPHA:2143
Stiff Skin Syndrome
Retinal detachment ORPHA:2833
Ceroid Lipofuscinosis, Neuronal, 10
Neuronal loss in central nervous system, Cerebral atrophy, Rod-cone dystrophy, Retinal atrophy, I... OMIM:610127
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Retinitis Pigmentosa 66
Nyctalopia, Rod-cone dystrophy, Constriction of peripheral visual field, Reduced visual acuity, O... OMIM:615233
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hyperpigmented nevi, Blue irides, Heterochromia iridis, Hypo... ORPHA:79432
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Retinal detachment OMIM:613153
Scheie Syndrome
Retinal degeneration OMIM:607016
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Acute Zonal Occult Outer Retinopathy
Constriction of peripheral visual field, Retinal pigment epithelial mottling, Photopsia, Scotoma,... ORPHA:284454
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Melanocytic nevus, Freckling, Macular degeneration ORPHA:1573
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retinal degenerati... OMIM:615986
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Retinal dysplasia OMIM:613154
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:96
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Retinal detachment ORPHA:3218
Cutis Marmorata Telangiectatica Congenita
Retinal detachment OMIM:219250
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Cerebral cortical atrophy, Retinal degeneration... OMIM:604360
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Choroidal neovascularization, Macular degeneration ORPHA:404451
Fundus Albipunctatus
Fundus albipunctatus, Nyctalopia, Retinal flecks OMIM:136880
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Late-Onset Retinal Degeneration
Macular degeneration, Patchy atrophy of the retinal pigment epithelium, Chorioretinal atrophy, Fu... ORPHA:67042
Cone-Rod Dystrophy 6
Photophobia, Hemeralopia, Nyctalopia, Chorioretinal atrophy, Reduced visual acuity, Progressive n... OMIM:601777
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Retinal detachment OMIM:609616
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Spondylo-Ocular Syndrome
Retinal detachment ORPHA:85194
Microphthalmia, Isolated, With Coloboma 9
Retinal detachment OMIM:615145
Thiamine-Responsive Megaloblastic Anemia Syndrome
Optic atrophy, Retinal degeneration, Cone/cone-rod dystrophy OMIM:249270
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Abnormality of pattern visual evoked potentia... OMIM:616648
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia, Coloboma ORPHA:324416
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Retinopathy, Chorioretinal atrophy, Abnormality of retinal pigmentation, Abnormal chorioretinal m... ORPHA:5
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Neonatal Adrenoleukodystrophy
Optic atrophy, Abnormality of retinal pigmentation ORPHA:44
Smith-Magenis Syndrome
Retinal detachment OMIM:182290
Aceruloplasminemia
Retinal degeneration OMIM:604290
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Rod-cone dystrophy, Attenuation of retinal blood ves... OMIM:609033
Congenital Primary Aphakia
Retinal dysplasia ORPHA:83461
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Norrie Disease
Optic atrophy, Retinal detachment, Retinal dysplasia, Retinal fold OMIM:310600
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Brain atrophy, Retinal degeneration, Cerebral atrophy, Attenuation of retinal blood vessels, Geog... OMIM:619260
Congenital Muscular Dystrophy With Intellectual Disability
Facial palsy, Pigmentary retinopathy ORPHA:370968
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Microphthalmia, Isolated, With Coloboma 7
Coloboma OMIM:614497
Leigh Syndrome With Leukodystrophy
Optic atrophy, Pigmentary retinopathy ORPHA:255241
Autosomal Recessive Spastic Paraplegia Type 15
Yellow/white lesions of the retina, Pigmentary retinopathy, Retinal flecks ORPHA:100996
Hypobetalipoproteinemia, Familial, 1
Retinal degeneration, Rod-cone dystrophy OMIM:615558
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Retinal detachment, Hypopigmentation of the fundus ORPHA:163649
Bardet-Biedl Syndrome 17
Retinal degeneration, Rod-cone dystrophy, Cone/cone-rod dystrophy, Macular atrophy, Bone spicule ... OMIM:615994
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Abnormality of retinal pigmentation ORPHA:3085
Retinal Arteries, Tortuosity Of
Photophobia, Retinal hemorrhage, Retinal arteriolar tortuosity OMIM:180000
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, Optic disc pallor, E... OMIM:616959
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Retinal pigment epithelial mottling OMIM:619517
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy OMIM:619059
Alg6-Cdg
Retinal degeneration, Rod-cone dystrophy ORPHA:79320
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Retinal dystrophy ORPHA:370022
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Zika Virus Disease
Absent foveal reflex, Retinal pigment epithelial mottling, Chorioretinal atrophy, Abnormal optic ... ORPHA:448237
Walker-Warburg Syndrome
Retinal detachment, Retinal dystrophy, Optic atrophy, Chorioretinal dysplasia, Abnormality of the... ORPHA:899
Papillorenal Syndrome
Gliosis, Macular degeneration, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, Re... OMIM:120330
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Pigmentary retinopathy OMIM:256000
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Pigmentary retinopathy OMIM:252011
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Patent ductus arteriosus ORPHA:290
Stickler Syndrome, Type I
Membranous vitreous appearance, Retinal detachment, Vitreoretinopathy, Retinal hole OMIM:108300
Mucolipidosis Type Iv
Retinopathy, Abnormality of retinal pigmentation ORPHA:578
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Retinal detachment ORPHA:370959
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Numerous congenital melanocytic nevi, Generalized hyperpigme... ORPHA:2481
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
Spondyloocular Syndrome
Retinal detachment OMIM:605822
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Retinal coloboma, Macular coloboma OMIM:107550
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Abnormality of visual evoked potentials, Temporal optic disc... ORPHA:1215
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2518
Microphthalmia, Isolated, With Coloboma 4
Coloboma OMIM:251505
Oculocutaneous Albinism Type 1A
Ocular albinism, Hypopigmentation of the skin, Abnormality of visual evoked potentials, Hypopigme... ORPHA:79431
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Temporal optic disc pallor OMIM:619649
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Optic atrophy, Retinal detachment OMIM:619833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Pigmentary retinopathy OMIM:613156
Joubert Syndrome 16
Retinal dystrophy, Coloboma OMIM:614465
Dihydropyrimidine Dehydrogenase Deficiency
Optic atrophy, Coloboma OMIM:274270
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Undetectable visual evoked potentials, Rod-cone... ORPHA:436245
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Pigmentary retinopathy, Rod-cone dystrophy OMIM:268020
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Retinal degeneration, Pigmentary retinopathy, Optic disc pallor, Cerebellar atr... ORPHA:79264
Arthrogryposis, Distal, Type 5
Abnormality of retinal pigmentation OMIM:108145
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:216866
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment OMIM:607143
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Rod-cone dystrophy OMIM:300578
Kniest Dysplasia
Degenerative vitreoretinopathy, Rhegmatogenous retinal detachment, Lattice retinal degeneration, ... ORPHA:485
Oculo-Palato-Cerebral Syndrome
Remnants of the hyaloid vascular system, Retinal detachment, Frontal cortical atrophy, Global bra... ORPHA:2714
Neurodegeneration With Brain Iron Accumulation 2A
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy, Decreased nerve conduction ve... OMIM:256600
Sturge-Weber Syndrome
Cerebral cortical atrophy, Abnormal retinal vascular morphology, Retinal detachment, Abnormal cho... ORPHA:3205
Hsd10 Disease, Infantile Type
Retinal degeneration, Cerebral atrophy, Rod-cone dystrophy, Neurodegeneration, Optic atrophy, Dif... ORPHA:391428
Proteus-Like Syndrome
Thymus hyperplasia, Retinal detachment, Splenomegaly ORPHA:2969
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction
Optic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:268315
Kniest Dysplasia
Retinal detachment OMIM:156550
Night Blindness, Congenital Stationary, Type 1A
Hemeralopia, Congenital stationary night blindness, High myopia, Myopia OMIM:310500
Vici Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormal macular morphology, Hypopigmentation... ORPHA:1493
Joubert Syndrome 3
Pigmentary retinopathy, Retinal dystrophy OMIM:608629
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Hypopigmented skin patches, Abnormal retinal ... ORPHA:2715
Oculofaciocardiodental Syndrome
Retinal detachment ORPHA:2712
Donnai-Barrow Syndrome
Retinal detachment, Retinal dystrophy OMIM:222448
Oculoauricular Syndrome
Rod-cone dystrophy, Retinal coloboma, Morning glory anomaly, Chorioretinal atrophy, Retinal detac... OMIM:612109
Joubert Syndrome 8
Optic disc pallor, Pigmentary retinopathy OMIM:612291
Joubert Syndrome 22
Retinal dysplasia, Coloboma OMIM:615665
Night Blindness, Congenital Stationary, Type 1B
Hemeralopia, Congenital stationary night blindness, Nyctalopia, Myopia OMIM:257270
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Remnants of the hyaloid vascular system, Retinal detachment, Retinal dysp... OMIM:614643
Knobloch Syndrome
Vitreoretinopathy, Retinal detachment, Abnormal vitreous humor morphology, Macular degeneration ORPHA:1571
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Coloboma Of Macula With Type B Brachydactyly
Coloboma OMIM:120400
Joubert Syndrome 6
Retinal degeneration, Chorioretinal coloboma OMIM:610688
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials OMIM:617523
Smith-Magenis Syndrome
Retinal detachment ORPHA:819
Micro Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Reti... ORPHA:2510
Lowry-Wood Syndrome
Abnormality of retinal pigmentation ORPHA:1824
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Macular degeneration OMIM:619780
Marshall Syndrome
Retinal detachment, Abnormal vitreous humor morphology, Vitreoretinopathy ORPHA:560
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment, Vitreoretinopathy OMIM:183900
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Abnormal sensory nerve conduction velocity, Pigmentary r... ORPHA:88628
Knobloch Syndrome 2
Retinal detachment, Vitreous floaters, Vitreoretinopathy OMIM:618458
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Mottled pigmentation of photoexposed areas, Pigmentary retinopathy OMIM:560000
Holoprosencephaly-Craniosynostosis Syndrome
Abnormality of retinal pigmentation ORPHA:2163
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Brain atrophy, Cerebral atrophy, Retinal degeneration ORPHA:442835
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
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Retinal degeneration, Coloboma OMIM:615249
Refsum Disease
Retinopathy, Abnormality of retinal pigmentation ORPHA:773
Nephronophthisis 11
Retinal degeneration OMIM:613550
Mulibrey Nanism
Pigmentary retinopathy OMIM:253250
Incontinentia Pigmenti
Leukocytosis, Retinal vascular proliferation, Eosinophilia, Retinal detachment, Retinal hemorrhag... OMIM:308300
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Cafe-au-lait spot, Rod-cone dystrophy, Abnormality of pattern visual evoked potentials, Retinal d... ORPHA:166035
Multiple Sulfatase Deficiency
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormality of retinal pigmentation ORPHA:585
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Retinal detachment, Retinal dysplasia OMIM:253800
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Hyaloid vascular remnant and retrolental mass, Glial rem... ORPHA:91495
Oguchi Disease 1
Hemeralopia, Congenital stationary night blindness OMIM:258100
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Macular degeneration ORPHA:284289
Seckel Syndrome 10
Elevated hemoglobin A1c, Retinal detachment OMIM:617253
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Retinal detachment ORPHA:521445
Spondyloepiphyseal Dysplasia Congenita
Retinal detachment ORPHA:94068
Microphthalmia, Isolated 4
Coloboma OMIM:613094
Paget Disease Of Bone 5, Juvenile-Onset
Angioid streaks of the fundus, Retinopathy, Macular scar, Retinal degeneration OMIM:239000
Marshall Syndrome
Retinal detachment, Vitreoretinopathy OMIM:154780
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Retinal degeneration ORPHA:79244
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Retinal detachment, Retinal dystrophy, Optic at... ORPHA:2526
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, Retinal atrophy, ... ORPHA:85167
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Optic nerve hypoplasia, Retinal detachment, Optic atrophy, Retinal atrophy, Retinal dysplasia OMIM:236670
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:2235
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Decreased nerve conduction velocity, Freckling, Pigmentary retinopathy OMIM:610651
Incontinentia Pigmenti
Cerebral cortical atrophy, Retinal vascular proliferation, Eosinophilia, Retinal detachment, Reti... ORPHA:464
Brittle Cornea Syndrome
Retinal detachment ORPHA:90354
Wolfram Syndrome 1
Optic atrophy, Pigmentary retinopathy OMIM:222300
Classic Homocystinuria
Optic atrophy, Retinal detachment, Abnormality of retinal pigmentation ORPHA:394
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Cysticercosis
Retinal detachment, Abnormality of optic chiasm morphology, Chorioretinitis ORPHA:1560
Congenital Bile Acid Synthesis Defect Type 4
Pigmentary retinopathy ORPHA:79095
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Melanocytic nevus, Multiple cafe-au-lait spots, Abnormality of retinal pigmentation, Generalized ... ORPHA:1969
Lowry-Wood Syndrome
Pigmentary retinopathy OMIM:226960
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials ORPHA:2971
Isolated Succinate-Coq Reductase Deficiency