Registered for phenotyping at IMPC

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

Gene Summary

Name:
cyclic nucleotide gated channel alpha 1
Synonyms:
Cncg

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 Cnga1 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 Cnga1 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Cnga1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision... OMIM:603649
Macular Dystrophy, Retinal, 2
Retinal pigment epithelial atrophy, Central scotoma, Granular macular appearance, Reduced visual ... OMIM:608051
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... ORPHA:59181
Stargardt Disease 3
Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment OMIM:600110
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... OMIM:605670
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... OMIM:136550
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular scar, Drusen, Macular degeneration, Progressive visual loss OMIM:615439
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy, Visual impairment OMIM:126600
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Retinitis Pigmentosa 42
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... OMIM:612943
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... OMIM:608850
Macular Dystrophy, Vitelliform, 2
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... OMIM:153700
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Best Vitelliform Macular Dystrophy
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... ORPHA:1243
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Leber Congenital Amaurosis 19
Optic disc pallor, Visual impairment, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Blindness, Nyctalopi... OMIM:180210
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... OMIM:600138
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... ORPHA:85128
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... OMIM:613750
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinitis Pigmentosa Inversa With Deafness
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... OMIM:180020
Ceroid Lipofuscinosis, Neuronal, 6A
Increased neuronal autofluorescent lipopigment, Retinal degeneration, Progressive visual loss OMIM:601780
Bietti Crystalline Dystrophy
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... ORPHA:41751
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... OMIM:616544
Macular Dystrophy, Patterned, 2
Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation OMIM:608970
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Retinitis Pigmentosa 70
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... OMIM:615922
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Visual field defect, Attenuation of retin... OMIM:609923
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... OMIM:617781
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... OMIM:620342
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ph... OMIM:609913
Optic Atrophy 9
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... OMIM:616289
Choroideremia
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Chorioretinal d... OMIM:303100
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... OMIM:613731
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... OMIM:615725
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Central scotoma, Reduced visual acu... OMIM:600977
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula... OMIM:616152
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Metamorphopsia, Choroidal neovascularization, Amblyopia, Retinal pigment... ORPHA:97341
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... OMIM:609021
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Nyctalopia, Optic atrophy, Chorioretinal atrophy, Rod-co... OMIM:607921
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:610359
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Reduced visual acu... OMIM:612712
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Pigmentary retinopat... OMIM:610951
Retinopathy Of Prematurity
Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula... ORPHA:90050
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... OMIM:608194
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... OMIM:614181
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Reduced visual acuity, Photophobia, Peripapillary atrophy, H... OMIM:617879
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:617871
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Severely reduced visual acuity, Rod-cone dystrophy ORPHA:3011
Retinitis Pigmentosa 47
Nyctalopia, Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment OMIM:613758
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluorescent lipopigme... OMIM:204500
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:618144
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... OMIM:619007
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:617123
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness, Chorioretinal atrophy OMIM:136900
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Macular Dystrophy, Patterned, 1
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... OMIM:169150
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Slow decrease in visual acuity,... OMIM:610381
Retinitis Pigmentosa 38
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... OMIM:613862
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Nyctalopia, Rod-cone dystrophy, Visual i... OMIM:613428
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... OMIM:604393
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... OMIM:613660
Senior-Loken Syndrome 6
Rod-cone dystrophy, Reduced visual acuity, Visual impairment OMIM:610189
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:601718
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Visual impairment, Atten... OMIM:614180
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Wagner Vitreoretinopathy
Myopia, Retinal pigment epithelial atrophy, Visual loss, Optically empty vitreous, Optic atrophy,... OMIM:143200
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia OMIM:616502
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels OMIM:165510
Macular Dystrophy, Vitelliform, 4
Drusen, Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity OMIM:616151
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 63
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision OMIM:614494
Achromatopsia
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... ORPHA:49382
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Nyctalopia, Photophobia, Rod-cone dystrophy, Color visio... OMIM:600852
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... OMIM:608133
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks OMIM:611809
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1
Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul... OMIM:619382
Retinitis Pigmentosa 71
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... OMIM:616394
Choroideremia
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... ORPHA:180
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... OMIM:602093
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... OMIM:267760
Macular Dystrophy, Vitelliform, 1
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Cone Rod Dystrophy
Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment, Color vision defect ORPHA:1872
Bothnia Retinal Dystrophy
Macular degeneration, Nyctalopia, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 35
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia OMIM:610282
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Retinitis Pigmentosa 78
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... OMIM:617433
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... OMIM:180100
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... OMIM:613194
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... OMIM:616517
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Macular atrophy... OMIM:180104
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... OMIM:615780
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Nyctalopia, Opt... OMIM:600059
Charcot-Marie-Tooth Disease, Demyelinating, Type 1H
Macular degeneration OMIM:619764
Retinitis Pigmentosa 20
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... OMIM:613794
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:613582
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect OMIM:607476
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... OMIM:616079
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Optic atrophy, Severely reduced visual acuity OMIM:309555
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Increased neuronal autofluorescent lipopigment, Increased extraneuronal autofluorescen... OMIM:204200
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618826
Neuropathy, Ataxia, And Retinitis Pigmentosa
Blindness, Retinal pigment epithelial mottling, Corticospinal tract atrophy, Rod-cone dystrophy, ... OMIM:551500
Retinitis Pigmentosa 40
Nyctalopia, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal b... OMIM:613801
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Nyctalopia, Visual ac... OMIM:618220
Leber Congenital Amaurosis 2
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... OMIM:204100
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:606068
Retinal Dystrophy And Obesity
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... OMIM:616188
Cone-Rod Dystrophy 12
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... OMIM:612657
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
Retinitis Pigmentosa 18
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... OMIM:601414
Exudative Vitreoretinopathy 3
Retinal detachment, Reduced visual acuity, Retinal exudate, Exudative vitreoretinopathy, Retinal ... OMIM:605750
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... OMIM:619614
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 2
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... OMIM:312600
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... OMIM:300029
Exudative Vitreoretinopathy 5
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... OMIM:613310
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... OMIM:619977
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... ORPHA:215
Central Retinal Vein Occlusion
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... ORPHA:411527
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia, Vis... ORPHA:1852
Retinitis Pigmentosa 85
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity OMIM:618345
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... OMIM:610356
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Ophthalmoplegia, External, And Myopia
Myopia, Retinal degeneration, Chorioretinal degeneration OMIM:311000
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect OMIM:618511
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment ORPHA:75858
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:620228
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:620102
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Nyctalopia, Pigmentary retinopathy OMIM:179840
Progressive Bifocal Chorioretinal Atrophy
Myopia, Chorioretinal dystrophy, Macular atrophy, Pigmentary retinopathy, Visual impairment ORPHA:75373
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Increased neuronal autofluorescent lipopigment, Optic atrophy, Cerebral atrophy, Macul... OMIM:256730
Oguchi Disease
Myopia, Mizuo phenomenon, Diplopia, Visual field defect, Macular degeneration, Congenital station... ORPHA:75382
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... OMIM:615147
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:617304
Cavitary Optic Disc Anomalies
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect OMIM:611543
Retinitis Pigmentosa 6
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Pigmentary retin... OMIM:312612
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... OMIM:616170
Usher Syndrome, Type Iiia
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect OMIM:276902
Tritanopia
Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T... ORPHA:88629
Retinal Capillary Malformation
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... ORPHA:71213
Optic Atrophy 3, Autosomal Dominant
Reduced visual acuity, Optic disc pallor, Optic atrophy, Scotoma OMIM:165300
Usher Syndrome, Type Iid
Nyctalopia, Rod-cone dystrophy OMIM:611383
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... OMIM:264420
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Chorioretinal dysplasia, Visual impairment OMIM:616335
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... OMIM:613341
Optic Atrophy 12
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... OMIM:618977
Retinitis Pigmentosa
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... OMIM:268000
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Visual field defect, Rod-cone dystrophy, Visual impairme... OMIM:613809
Fleck Retina, Familial Benign
Nyctalopia, Retinal flecks, Visual impairment OMIM:228980
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... OMIM:600105
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Constriction of peripheral visual field, Retinal pigment epithelial mott... OMIM:610478
Prolonged Electroretinal Response Suppression 2
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... OMIM:620344
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... OMIM:617406
Leber Congenital Amaurosis 1
Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Photophobia, Pig... OMIM:204000
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration... OMIM:614292
Exudative Vitreoretinopathy 1
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... OMIM:133780
Fundus Albipunctatus
Nyctalopia, Retinal flecks, Fundus albipunctatus OMIM:136880
Exudative Vitreoretinopathy 4
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... OMIM:601813
Cone Dystrophy 4
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... OMIM:613093
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... OMIM:300476
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... OMIM:193235
Leber Congenital Amaurosis 16
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... OMIM:614186
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... ORPHA:209943
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... OMIM:615973
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, N... OMIM:616108
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Blind-spot enlargment, Optic atrophy, Reduced visual acuity, Severely reduced ... OMIM:614296
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:612095
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment OMIM:600790
Blue Cone Monochromacy
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... OMIM:303700
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... OMIM:618173
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Nyctalopia OMIM:618632
Birdshot Chorioretinopathy
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... ORPHA:179
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina, Visual field defect OMIM:610445
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration OMIM:615993
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... OMIM:613756
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:613983
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... ORPHA:284454
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Retinitis Pigmentosa 23
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... OMIM:300424
Ceroid Lipofuscinosis, Neuronal, 5
Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Progressive visual loss, Cere... OMIM:256731
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:615233
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... ORPHA:436274
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation, Metamorphopsia OMIM:233800
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... ORPHA:52427
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... OMIM:210370
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy, Visual impairment ORPHA:1995
Night Blindness, Congenital Stationary, Type 1F
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... OMIM:615058
Narp Syndrome
Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field... ORPHA:644
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Vitreoretinochoroidopathy
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... OMIM:193220
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Macular degene... OMIM:613767
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Constriction of peripheral visual field, Retinal degeneration OMIM:520000
Cone-Rod Dystrophy 18
Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... OMIM:615374
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Lodder-Merla Syndrome, Type 1, With Impaired Intellectual Development And Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Retinal Cone Dystrophy 3A
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia OMIM:610024
Adult-Onset Foveomacular Vitelliform Dystrophy
Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio... ORPHA:99000
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:616469
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im... OMIM:258870
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:613581
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:602772
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Macular degeneration, Choroidal neovascularization, Drusen OMIM:608895
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co... OMIM:616732
Nanophthalmos 4
Hypermetropia, Reduced visual acuity, Optic disc drusen OMIM:615972
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Myopia, Retinal degeneration ORPHA:3363
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Ma... OMIM:618195
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:600132
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at... OMIM:303110
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Constriction of peripheral visual field, Congenital stationary night blindness... OMIM:616389
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Retinitis Pigmentosa 93
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity OMIM:619845
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Nyctalopia, Retinal dystrophy, Reduced visual acuity OMIM:610156
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral atrophy OMIM:618770
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613810
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... ORPHA:440727
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... ORPHA:414
Leber Congenital Amaurosis 15
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... OMIM:613843
Progressive Cone Dystrophy
Photophobia, Abnormality of retinal pigmentation, Visual impairment, Color vision defect ORPHA:1871
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Centrocecal sco... OMIM:165500
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Photophobia, Macular degeneration, Hemeralopia, Dyschromatopsia, Visual impairment OMIM:617236
Mucolipidosis Iv
Cerebellar atrophy, Optic atrophy, Photophobia, Retinal degeneration, Visual impairment OMIM:252650
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Poretti-Boltshauser Syndrome
Myopia, Retinal atrophy, Retinal thinning, Retinal dystrophy, Amblyopia OMIM:615960
Spondylometaphyseal Dysplasia, Axial
Cone/cone-rod dystrophy, Rod-cone dystrophy, Optic atrophy, Retinal degeneration OMIM:602271
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy, Reduced visual acuity, Cerebral visual impairment OMIM:618768
Nephronophthisis 14
Retinal degeneration OMIM:614844
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... ORPHA:791
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... OMIM:270200
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi... ORPHA:94058
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Reduced visual acuity, Retinal pigment epithelial mottling, Central retinal vessel vascular tortu... ORPHA:506353
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Blindness, Abnormality of macular pigmentation ORPHA:1573
Retinitis Pigmentosa 75
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... OMIM:617023
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my... OMIM:615860
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Visual impairment ORPHA:141
Åland Islands Eye Disease
Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ... ORPHA:178333
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy, Progressive visual loss OMIM:164500
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:600151
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc... OMIM:612989
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Retinal detachment, Blindness, Abnormality of retinal pigmentation ORPHA:171844
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... OMIM:619649
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia, Deuteranopia, Amblyopia, High myopia... OMIM:300843
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity OMIM:615983
Hsd10 Mitochondrial Disease
Visual loss, Optic atrophy, Cerebral cortical atrophy, Retinal degeneration OMIM:300438
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Reduced visual acuity, Nummular pigmentation of the fund... OMIM:613835
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P... OMIM:300578
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... OMIM:616468
Sandhoff Disease
Cherry red spot of the macula, Blindness ORPHA:796
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Oculocutaneous Albinism Type 6
Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho... ORPHA:370097
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v... ORPHA:98890
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment OMIM:113750
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Blindness, Optic atrophy ORPHA:216873
Optic Pathway Glioma
Papilledema, Blindness, Visual loss, Optic atrophy, Reduced visual acuity, Visual field defect ORPHA:2086
Night Blindness, Congenital Stationary, Type 1B
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... OMIM:257270
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Retinal atrophy, Increased neuronal autofluorescent lipopigment, Rod-cone dys... OMIM:610127
Retinitis Pigmentosa 59
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dystrophy, C... OMIM:613861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia OMIM:615181
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Macular degeneration, Retinal degeneration, Cer... OMIM:604360
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Optic disc pallor, Macular coloboma, Abnormal auditory evoked potentials, Mac... OMIM:619260
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Myopia, Retinal atrophy, Retinal dystrophy, Amblyopia, Hypermetropia ORPHA:370022
Birdshot Chorioretinopathy
Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitreous floaters, Vitriti... OMIM:605808
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Blindness, ... OMIM:609033
Idiopathic Uveal Effusion Syndrome
Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d... ORPHA:209956
Enhanced S-Cone Syndrome
Nyctalopia, Macular edema, Hemeralopia, Pigmentary retinopathy, Vitreoretinopathy, Retinoschisis OMIM:268100
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... OMIM:216900
Night Blindness, Congenital Stationary, Type 1E
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia OMIM:614565
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Nyctalopia, Myopia ORPHA:1390
Severe Canavan Disease
Blindness, Optic atrophy ORPHA:314911
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Visual loss, Central scotoma,... OMIM:604116
Idiopathic Panuveitis
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... ORPHA:280921
Behr Syndrome
Cerebellar atrophy, Blindness, Optic atrophy, Hypoplastic optic chiasm, Progressive visual loss, ... OMIM:210000
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project... ORPHA:2788
Juvenile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Optic disc pallor, Large central visual field defect, Blindness, Visual loss,... ORPHA:79264
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Optic disc pallor, Macular atrophy, Optic atrophy, Cerebral atrophy, Retinopa... OMIM:616171
Retinitis Pigmentosa 89
Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin... OMIM:618955
Spastic Paraplegia 15, Autosomal Recessive
Macular degeneration, Visual impairment, Reduced visual acuity, Retinal degeneration OMIM:270700
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Reduced visual acuity OMIM:613216
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct... ORPHA:5
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Photophobia, Chorioretinal hypopigmentation, Reduced visual acuity OMIM:619165
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R... OMIM:125250
Sjögren-Larsson Syndrome
Myopia, Abnormality of retinal pigmentation, Photophobia, Macular degeneration, Retinopathy ORPHA:816
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration OMIM:249270
Developmental And Epileptic Encephalopathy 28
Cerebral atrophy, Optic atrophy, Retinal degeneration OMIM:616211
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia ORPHA:35737
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Retinitis Pigmentosa And Erythrocytic Microcytosis
Optic disc pallor, Myopia, Retinal atrophy, Retinal pigment epithelial atrophy, Ring scotoma, Epi... OMIM:616959
Cln3 Disease
Cerebellar atrophy, Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retin... ORPHA:228346
Stickler Syndrome Type 2
Retinal detachment, Myopia, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Sarcosinemia
Congenital blindness, Optic atrophy ORPHA:3129
Scheie Syndrome
Retinal degeneration OMIM:607016
Microphthalmia, Isolated 6
High hypermetropia, Retinal fold, Amblyopia OMIM:613517
Night Blindness, Congenital Stationary, Type 2A
Congenital stationary night blindness, Reduced visual acuity, Visual impairment OMIM:300071
Foveal Hypoplasia 2
Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Leukodystrophy, Hypomyelinating, 14
Cerebellar atrophy, Blindness, Cerebral atrophy OMIM:617899
Wolfram Syndrome, Mitochondrial Form
Blindness, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Hsd10 Disease, Infantile Type
Diffuse cerebral atrophy, Blindness, Visual loss, Optic atrophy, Cerebral atrophy, Frontotemporal... ORPHA:391428
Refsum Disease, Classic
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Severely reduced visual acuity, Retinal coloboma, Moderately reduced visual acuity, Chorioretinal... ORPHA:2921
Spastic Paraplegia 55, Autosomal Recessive
Central scotoma, Optic atrophy, Reduced visual acuity OMIM:615035
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Severely reduced visual acuity, Attenuation of retinal blood ves... OMIM:613826
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Visual loss, Optic atrophy, Progressive visual loss, Visual impairment OMIM:601338
Myopia 28, Autosomal Recessive
Retinal detachment, High myopia OMIM:619781
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Visual impairm... OMIM:615994
Krabbe Disease
Diffuse cerebral atrophy, Blindness, Decreased nerve conduction velocity, Optic atrophy, Neurodeg... OMIM:245200
Aland Island Eye Disease
Hypoplasia of the fovea, Myopia, Severely reduced visual acuity OMIM:300600
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Visual impairment, Patchy atrophy of the retinal pigment epi... ORPHA:1433
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Progre... ORPHA:436245
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Blindness, Rod-cone dystrophy, Pigmentary retinopathy ORPHA:216866
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Macular degeneration, Choroidal neovascularization, Cerebral cortical atrophy ORPHA:404451
Leukoencephalopathy With Vanishing White Matter 1
Blindness, Optic atrophy OMIM:603896
Myopia 3, Autosomal Dominant
Retinal detachment, High myopia OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment, High myopia OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment, High myopia OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment, High myopia OMIM:608474
Retinitis Pigmentosa 46
Optic disc pallor, Constriction of peripheral visual field, Pigmentary retinopathy, Rod-cone dyst... OMIM:612572
Corneal Hypesthesia With Retinal Abnormalities, Sensorineural Deafness, Unusual Facies, Persistent Ductus Arteriosus, And Mental Retardation
Absent retinal pigment epithelium, Reduced visual acuity, Visual impairment OMIM:122430
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Rod-cone dystrophy, Reduced visual acuity OMIM:619082
Canavan Disease
Blindness, Optic atrophy, Brain atrophy, Visual impairment OMIM:271900
Infantile Refsum Disease
Constriction of peripheral visual field, Facial palsy, Nyctalopia, Optic atrophy, Rod-cone dystro... ORPHA:772
Alg6-Cdg
Rod-cone dystrophy, Retinal degeneration ORPHA:79320
Retinitis Pigmentosa 87 With Choroidal Involvement
Bone spicule pigmentation of the retina, Chorioretinal atrophy, Peripheral visual field loss, Num... OMIM:618697
Spinocerebellar Ataxia Type 7
Cone/cone-rod dystrophy, Cerebellar atrophy, Blindness, Visual loss, Reduced visual acuity, Abnor... ORPHA:94147
Peroxisome Biogenesis Disorder 9B
Constriction of peripheral visual field, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia OMIM:614879
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Reduced visual acuity, Optic disc pallor, Rod-cone dystrophy, Macular atrophy OMIM:615434
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Joubert Syndrome 6
Blindness, Retinal degeneration, Chorioretinal coloboma OMIM:610688
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Cerebral atrophy, Abnormality of vision, Brain atrophy, Retinal degeneration ORPHA:442835
Usher Syndrome
Abnormality of retinal pigmentation, Blindness, Myopia, Nyctalopia, Visual field defect, Progress... ORPHA:886
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Late Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Myopia, Blindness, Corpus callosum atrophy, Visual loss, Reduced visual acuit... ORPHA:168491
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Visual impairment, Reduced visual acuity, Retinal degeneration OMIM:615249
Cancer-Associated Retinopathy
Optic disc pallor, Retinal atrophy, Retinal pigment epithelial atrophy, Constriction of periphera... ORPHA:71505
Aceruloplasminemia
Retinal degeneration OMIM:604290
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Nyctalopia, Visual impairment ORPHA:96
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology, Severely reduced visual acuity ORPHA:65
Macrophthalmia, Colobomatous, With Microcornea
Myopia, Macular atrophy, Optic disc coloboma, Reduced visual acuity, Chorioretinal coloboma OMIM:602499
Retinal Dystrophy With Or Without Extraocular Anomalies
Retinal dystrophy, Reduced visual acuity OMIM:617175
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Retinal degeneration OMIM:615630
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Remnants of the hyaloid vascular system, Optic nerve hypoplasia, Morning glo... OMIM:165550
Pyruvate Dehydrogenase E2 Deficiency
Peripheral visual field loss, Neurodegeneration, Retinal degeneration ORPHA:79244
Norrie Disease
Retinal detachment, Blindness, Optic atrophy, Retinal dysplasia, Retinal fold OMIM:310600
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Abnormal fundus morphology, Phot... ORPHA:370091
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Retinitis Pigmentosa 74
Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity, Pigmentary ret... OMIM:616562
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Blindness, Reduced visual acuity ORPHA:3208
Sturge-Weber Syndrome
Conjunctival telangiectasia, Retinal detachment, Blindness, Abnormal retinal vascular morphology,... ORPHA:3205
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Macular degeneration, Diplopia ORPHA:284289
Madras Motor Neuron Disease
Reduced visual acuity, Optic atrophy, Facial palsy, Visual impairment ORPHA:137867
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Pantothenate Kinase-Associated Neurodegeneration
Pallidal degeneration, Blindness, Bull's eye maculopathy, Nyctalopia, Optic atrophy, Peripheral v... ORPHA:157850
Usher Syndrome Type 1
Scotoma, Visual loss, Nyctalopia, Subcortical cerebral atrophy, Hemianopia, High hypermetropia, C... ORPHA:231169
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Blindness OMIM:560000
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic disc pallor, Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Visual field... OMIM:615722
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Ocular albinism, Reduced visual acu... ORPHA:79435
Axial Spondylometaphyseal Dysplasia
Retinal dystrophy, Peripheral retinal degeneration, Amblyopia, Optic atrophy, Reduced visual acui... ORPHA:168549
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Bone spicule pigmentation of the retina, Visual loss, Nyctalopia, Axonal degeneration, Pigmentary... ORPHA:88628
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Myopia, Reduced visual acuity, Hypopigmentation of the fundus, Visual im... OMIM:203200
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Congenital Primary Aphakia
Abnormality of vision, Retinal dysplasia ORPHA:83461
Spastic Paraplegia 75, Autosomal Recessive
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Reduced visual acuity, Hypermetropia OMIM:616680
Albers-Schönberg Osteopetrosis
Blindness, Optic atrophy, Facial palsy, Visual impairment ORPHA:53
Refsum Disease
Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Progressive visual loss, ... ORPHA:773
Cach Syndrome
Cerebellar atrophy, Blindness, Optic atrophy, Cerebral atrophy, Optic neuritis, Atrophy/Degenerat... ORPHA:135
Albinism, Ocular, Type I
Hypoplasia of the fovea, Ocular albinism, Reduced visual acuity, Depigmented fundus, Photophobia OMIM:300500
Senior-Loken Syndrome 4
Severely reduced visual acuity, Rod-cone dystrophy, Amblyopia OMIM:606996
Methanol Poisoning
Blindness, Abnormal optic nerve morphology, Visual impairment, Blurred vision ORPHA:31825
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Nyctalopia, Optic atrophy ORPHA:99947
Isolated Atp Synthase Deficiency
Cerebellar atrophy, Blindness, Optic atrophy, Rod-cone dystrophy, Cerebral cortical atrophy ORPHA:254913
Cohen Syndrome
Myopia, Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy,... OMIM:216550
Cleft Palate, Proliferative Retinopathy, And Developmental Delay
Myopia, Retinal neovascularization OMIM:619074
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Visual field defect, Rod-cone dystrophy, Cerebral cortical atrophy, Retinal degeneration ORPHA:166035
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Blindness, Increased neuronal autofluorescent lipopigment, Visual loss, Progr... ORPHA:79263
Coloboma, Ocular, Autosomal Recessive
Optic disc coloboma, Retinal coloboma, Reduced visual acuity OMIM:216820
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Nyctalopia, Peripheral visual field loss, Hypoautofluorescent retinal lesion, Rod-cone dystrophy,... OMIM:250410
Stickler Syndrome, Type I
Retinal detachment, Myopia, Blindness, Vitreoretinopathy, Membranous vitreous appearance, Retinal... OMIM:108300
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Blindness, Hyaloid vascular remnant and retrolental ma... ORPHA:91495
Congenital Muscular Dystrophy With Cerebellar Involvement
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia, Optic atrophy ORPHA:370959
Acute Infantile Liver Failure-Cerebellar Ataxia-Peripheral Sensory Motor Neuropathy Syndrome
Optic atrophy, Reduced visual acuity, Cerebellar vermis atrophy ORPHA:466794
Lowry-Wood Syndrome
Pigmentary retinopathy, Nyctalopia, Peripheral visual field loss OMIM:226960
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness, Retinal dystrophy ORPHA:713
Senior-Loken Syndrome 8
Retinal dystrophy, Macular atrophy, Reduced visual acuity, Rod-cone dystrophy, Visual impairment OMIM:616307
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Cerebellar atrophy, Macular degeneration OMIM:619780
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Blindness, Optic atrophy, Visual impairment, Abnormali... ORPHA:1187
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Nyctalopia, Mild myopia OMIM:617024
Pseudoxanthoma Elasticum
Choroidal neovascularization, Retinal hemorrhage, Angioid streaks of the fundus, Optic disc druse... OMIM:264800
Joubert Syndrome 35
Nyctalopia, Rod-cone dystrophy, Progressive visual loss OMIM:618161
Pseudoxanthoma Elasticum, Forme Fruste
Myopia, Reduced visual acuity, Retinal hemorrhage, Angioid streaks of the fundus, Macular degener... OMIM:177850
Megalocornea
Retinal detachment, Reduced visual acuity OMIM:309300
Cataract 11, Multiple Types
Blindness OMIM:610623
Intermediate Uveitis
Macular scar, Vitreous haze, Epiretinal membrane, Vitreous floaters, Reduced visual acuity, Macul... ORPHA:279914
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Retinal detachment, Retinal dystrophy, Macular atrophy, Chorioretinal coloboma OMIM:212550
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness OMIM:607674
Primary Angiitis Of The Central Nervous System
Abnormal visual field test, Diplopia, Reduced visual acuity, Pseudopapilledema, Amaurosis fugax, ... ORPHA:140989
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Retinal detachment, Myopia, Chorioretinal dysplasia, Chorioretinal lacunae, Optic atrophy, Reduce... OMIM:152950
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Microphthalmia, Isolated, With Coloboma 9
Reduced visual acuity, Retinal detachment, Macular coloboma, Visual impairment OMIM:615145
Leber Congenital Amaurosis 3
Visual loss, Nyctalopia, Constriction of peripheral visual field OMIM:604232
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Conjunctival telangiectasia, Blindness, Optic atrophy, Spinocerebellar atrophy ORPHA:95433
Fuchs Heterochromic Iridocyclitis
Papilledema, Optic disc pallor, Retinal perforation, Vitreous floaters, Epiretinal membrane, Redu... ORPHA:263479
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness, Optic atrophy, Brain atrophy ORPHA:3078
Joubert Syndrome 30
Cerebellar atrophy, Retinal dystrophy, Reduced visual acuity OMIM:617622
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... ORPHA:352731
Usher Syndrome Type 3
Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia ORPHA:231183
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Cerebellar atrophy, Diffuse cerebral atrophy, Blindness, Central scotoma, Optic atrophy, Visual i... ORPHA:543470
Microphthalmia-Brain Atrophy Syndrome
Diffuse cerebral atrophy, Blindness, Corpus callosum atrophy, Atrophy/Degeneration affecting the ... ORPHA:77299
Bardet-Biedl Syndrome 1
Myopia, Bone spicule pigmentation of the retina, Retinal dystrophy, Aganglionic megacolon, Hypera... OMIM:209900
Osteopetrosis, Autosomal Recessive 2
Cranial nerve compression, Facial paralysis, Optic atrophy, Blindness OMIM:259710
Tay-Sachs Disease
Cherry red spot of the macula, Blindness OMIM:272800
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Momo Syndrome
Blindness, Retinal coloboma OMIM:157980
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Cerebellar atrophy, Myopia, Nyctalopia, High myopia, Rod-cone dystrophy, Cerebral cortical atrophy OMIM:617763
Optic Atrophy-Intellectual Disability Syndrome
Myopia, Optic disc hypoplasia, Optic nerve hypoplasia, Cerebral visual impairment, Amblyopia, Opt... ORPHA:401777
Cinca Syndrome
Retrobulbar optic neuritis, Blindness, Pseudopapilledema, Visual impairment ORPHA:1451
Joubert Syndrome With Oculorenal Defect
Blindness, Aganglionic megacolon, Retinal dystrophy, Chorioretinal coloboma, Visual impairment ORPHA:2318
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Morning glory anomaly, Optic disc c... OMIM:120200
Nephronophthisis 11
Retinal degeneration OMIM:613550
Aniridia 2
Optic atrophy, Amblyopia OMIM:617141
Osteopetrosis, Autosomal Recessive 1
Blindness, Facial palsy, Optic atrophy, Facial paralysis, Visual impairment OMIM:259700
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Retinopathy, Angioid streaks of the fundus, Retinal degeneration OMIM:239000
Infantile Neuroaxonal Dystrophy
Cerebellar atrophy, Blindness, Optic atrophy, Abnormal autonomic nervous system physiology, Abnor... ORPHA:35069
Spastic Paraplegia 79B, Autosomal Recessive
Cerebellar atrophy, Myopia, Visual loss, Optic atrophy, Opto-chiasmatic atrophy, Cerebral atrophy... OMIM:615491
Cranioectodermal Dysplasia 4
Nyctalopia, Rod-cone dystrophy, Hypermetropia, Visual impairment OMIM:614378
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration OMIM:272200
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Blindness, Optic atrophy, Cerebral atrophy, High myopia OMIM:220500
Alstrom Syndrome
Cone/cone-rod dystrophy, Blindness, Constriction of peripheral visual field, Visual loss, Photoph... OMIM:203800
Bardet-Biedl Syndrome 20
Papilledema, Constriction of peripheral visual field, Nyctalopia, Hypermetropia, Hemeralopia, Ret... OMIM:619471
Aica-Ribosuria Due To Atic Deficiency
Congenital blindness, Optic atrophy OMIM:608688
Cherubism
Constriction of peripheral visual field, Macular scar, Optic neuropathy, Reduced visual acuity, M... OMIM:118400
Mitochondrial Complex I Deficiency, Nuclear Type 4
Blindness, Brain atrophy OMIM:618225
Zika Virus Disease
Optic disc hypoplasia, Macular atrophy, Retinal pigment epithelial mottling, Chorioretinal atroph... ORPHA:448237
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Retinal thinning, ... ORPHA:85167
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Atrophy of the spinal cord, Frontal cortical atrophy, Cerebral cortical ... ORPHA:2822
Antiphospholipid Syndrome, Familial
Retinal detachment, Visual loss, Vitritis, Central retinal artery occlusion, Retinal vasculitis, ... OMIM:107320
Knobloch Syndrome
Retinal detachment, Myopia, Visual loss, Abnormal vitreous humor morphology, Macular degeneration... ORPHA:1571
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Blindness, Decreased ne... ORPHA:206436
Microcephaly 20, Primary, Autosomal Recessive
Blindness, Optic nerve hypoplasia OMIM:617914
Papillorenal Syndrome
Retinal detachment, Morning glory anomaly, Macular hyperpigmentation, Optic disc coloboma, Chorio... OMIM:120330
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Visual loss, Abnormal cranial nerve morphology, Macular degeneration, Abnormal autonomic nervous ... ORPHA:247234
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Myopia, Retinal dystrophy, Chorioretinal... ORPHA:2526
Hyperostosis Cranialis Interna
Reduced visual acuity, Optic atrophy, Facial palsy OMIM:144755
Werner Syndrome
Retinal degeneration OMIM:277700
Full Nf2-Related Schwannomatosis
Blindness, Remnants of the hyaloid vascular system, Facial palsy, Bilateral vestibular schwannoma... ORPHA:637
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness, Cerebral atrophy OMIM:250940
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Cerebellar atrophy, Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy ORPHA:412057
Leukodystrophy, Hypomyelinating, 12
Cerebellar atrophy, Cerebral visual impairment, Optic atrophy, Reduced visual acuity, Abnormal au... OMIM:616683
Xfe Progeroid Syndrome
Blindness, Optic atrophy, Visual impairment, Attenuation of retinal blood vessels OMIM:610965
Aceruloplasminemia
Macular degeneration, Abnormality of retinal pigmentation, Retinal degeneration ORPHA:48818
Maternal Uniparental Disomy Of Chromosome 4
Nyctalopia, Optic atrophy, Visual field defect, Pigmentary retinopathy, Rod-cone dystrophy ORPHA:96180
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations
Retinal cotton wool spot, Abnormal retinal vascular morphology, Macular edema, Visual field defec... ORPHA:247691
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Blindness, Cerebral cortical atrophy, Cerebral atrophy OMIM:236270
Pierson Syndrome
Retinal detachment, Blindness, Remnants of the hyaloid vascular system, Retinal hemorrhage, High ... OMIM:609049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal detachment, Myopia, Retinal atrophy, Blindness, Optic nerve hypoplasia, Optic atrophy, Re... OMIM:236670