Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
solute carrier family 24 (sodium/potassium/calcium exchanger), member 1
Synonyms:
N/A

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 Slc24a1 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 Slc24a1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Congenital Stationary Night Blindness
Nyctalopia, Abnormality of retinal pigmentation, Congenital stationary night blindness with norma... ORPHA:215
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830

The table below shows human diseases predicted to be associated to Slc24a1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Central Areolar Choroidal Dystrophy
Macular atrophy, Nyctalopia, Visual loss, Perifoveal ring of hyperautofluorescence, Reduced visua... ORPHA:75377
Late-Onset Retinal Degeneration
Visual loss, Scotoma, Retinal degeneration, Blindness, Adult-onset night blindness, Sub-RPE depos... OMIM:605670
Cone-Rod Dystrophy 7
Macular atrophy, Cone/cone-rod dystrophy, Color vision defect, Visual impairment, Bull's eye macu... OMIM:603649
Retinopathy, Pericentral Pigmentary, Dominant
Nyctalopia, Retinal atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Retina... OMIM:180210
Macular Dystrophy, Retinal, 2
Perifoveal ring of hyperautofluorescence, Reduced visual acuity, Central scotoma, Retinal pigment... OMIM:608051
Retinitis Pigmentosa 38
Macular atrophy, Nyctalopia, Peripheral retinal atrophy, Progressive visual loss, Rod-cone dystro... OMIM:613862
Retinitis Pigmentosa 11
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Perifoveal ring of hyperaut... OMIM:600138
Stargardt Disease 3
Macular atrophy, Macular flecks, Reduced visual acuity, Visual impairment, Macular dystrophy OMIM:600110
Retinitis Pigmentosa 33
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Visual impa... OMIM:610359
Macular Dystrophy, Patterned, 3
Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization, Reduced visual acuity OMIM:617111
Retinitis Pigmentosa 30
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Optic atrophy, Visual im... OMIM:607921
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Progressive visual loss, Macular degeneration, Drusen OMIM:615439
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Visual impairment, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy, Visual impairment OMIM:613827
Stargardt Disease
Nyctalopia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial mottling, Retinal ... ORPHA:827
Retinitis Pigmentosa 13
Nyctalopia, Cystoid macular edema, Retinal degeneration, Hypopigmentation of the fundus, Constric... OMIM:600059
Macular Dystrophy, Retinal, 3
Reduced visual acuity, Central scotoma, Retinal pigment epithelial atrophy, Color vision defect, ... OMIM:608850
Retinitis Pigmentosa 68
Nyctalopia, Visual field defect, Retinal atrophy, Rod-cone dystrophy OMIM:615725
Macular Dystrophy, Patterned, 1
Nyctalopia, Pattern dystrophy of the retina, Dark choroid, Metamorphopsia, Choroidal neovasculari... OMIM:169150
Cone-Rod Dystrophy, X-Linked, 1
Nyctalopia, Reduced visual acuity, Retinal pigment epithelial mottling, Retinal pigment epithelia... OMIM:304020
Bothnia Retinal Dystrophy
Nyctalopia, Pigmentary retinopathy, Retinitis, Central scotoma, Visual field defect, Retinal pigm... ORPHA:85128
Retinitis Pigmentosa 27
Macular atrophy, Peripapillary chorioretinal atrophy, Nyctalopia, Chorioretinal atrophy, Blindnes... OMIM:613750
Retinitis Pigmentosa 47
Nyctalopia, Pigmentary retinopathy, Chorioretinal atrophy, Visual impairment, Rod-cone dystrophy OMIM:613758
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Reduced visual acuity, Subretinal fluid, Visual impairment, Macular... OMIM:153700
Cone-Rod Dystrophy 21
Macular atrophy, Nyctalopia, Reduced visual acuity, Retinal dystrophy, Photophobia OMIM:616502
Retinitis Pigmentosa 76
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Cystoid macular edema... OMIM:617123
Retinitis Pigmentosa 63
Blurred vision, Nyctalopia, Rod-cone dystrophy, Optic disc pallor OMIM:614494
Newfoundland Rod-Cone Dystrophy
Nyctalopia, Scotoma, Retinal dystrophy, Color vision defect, Visual impairment OMIM:607476
Retinitis Pigmentosa 78
Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid macular edema, Photopsia, Optic d... OMIM:617433
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Retinitis Pigmentosa 32
Photoreceptor layer loss on macular OCT, Nyctalopia, Pigmentary retinopathy, Reduced visual acuit... OMIM:609913
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Metamorphopsia, Visual field defect, Color vision defect, Choroider... ORPHA:1243
Retinitis Pigmentosa 17
Nyctalopia, Color vision defect, Photophobia, Bone spicule pigmentation of the retina, Rod-cone d... OMIM:600852
Retinitis Pigmentosa 90
Nyctalopia, Bone spicule pigmentation of the retina, Reduced visual acuity, Attenuation of retina... OMIM:619007
Cone-Rod Dystrophy 15
Nyctalopia, Attenuation of retinal blood vessels, Retinal pigment epithelial atrophy, Color visio... OMIM:613660
Retinitis Pigmentosa 54
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Fundus atrophy, Bone spicule... OMIM:613428
Retinitis Pigmentosa 61
Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Bone spicule pigmentation of... OMIM:614180
Macular Degeneration, X-Linked Atrophic
Macular degeneration, Reduced visual acuity OMIM:300834
Retinitis Pigmentosa 85
Rod-cone dystrophy, Progressive night blindness, Reduced visual acuity OMIM:618345
Retinitis Pigmentosa 19
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal pigment epitheli... OMIM:601718
Cone-Rod Dystrophy 12
Nyctalopia, Reduced visual acuity, Central scotoma, Cone/cone-rod dystrophy, Color vision defect,... OMIM:612657
Cone-Rod Dystrophy 16
Macular atrophy, Beaten bronze macular sheen, Nyctalopia, Reduced visual acuity, Attenuation of r... OMIM:614500
Choroideremia
Nyctalopia, Chorioretinal atrophy, Chorioretinal degeneration, Constriction of peripheral visual ... OMIM:303100
Retinitis Pigmentosa 18
Nyctalopia, Scotoma, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... OMIM:601414
Cone Rod Dystrophy
Nyctalopia, Abnormality of retinal pigmentation, Color vision defect, Visual impairment, Photophobia ORPHA:1872
Retinitis Pigmentosa 20
Nyctalopia, Attenuation of retinal blood vessels, Severely reduced visual acuity, Visual impairme... OMIM:613794
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 62
Nyctalopia, Visual field defect, Rod-cone dystrophy, Optic disc pallor OMIM:614181
Retinitis Pigmentosa 37
Nyctalopia, Cystoid macular degeneration, Pigmentary retinopathy, Tritanomaly, Red-green dyschrom... OMIM:611131
Choroideremia
Nyctalopia, Abnormality of retinal pigmentation, Abnormality of vision, Myopia, Progressive visua... ORPHA:180
Retinitis Pigmentosa 7
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Chorioretinal atrophy, ... OMIM:608133
Oguchi Disease 2
Mizuo phenomenon, Congenital stationary night blindness OMIM:613411
Retinitis Pigmentosa 70
Nyctalopia, Optic disc pallor, Rod-cone dystrophy, Retinal degeneration OMIM:615922
Retinoschisis Of Fovea
Nyctalopia, Visual loss, Foveoschisis, Mildly reduced visual acuity, Hypermetropia, Rod-cone dyst... OMIM:268080
Retinal Cone Dystrophy 3A
Nyctalopia, Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Photophobia, Cone dy... OMIM:610024
Retinoschisis, Autosomal Dominant
Peripheral retinal degeneration, Retinoschisis, Abnormality of macular pigmentation OMIM:180270
Leber Congenital Amaurosis With Early-Onset Deafness
High hypermetropia, Retinal degeneration, Reduced visual acuity OMIM:617879
Macular Dystrophy With Central Cone Involvement
Reduced visual acuity, Central scotoma, Visual impairment, Bull's eye maculopathy, Optic disc pal... OMIM:616170
Stargardt Disease 1
Bull's eye maculopathy, Macular degeneration, Retinitis pigmentosa inversa OMIM:248200
Macular Dystrophy, Vitelliform, 4
Vitelliform-like macular lesions, Reduced visual acuity, Moderately reduced visual acuity, Drusen... OMIM:616151
Retinitis Pigmentosa 50
Nyctalopia, Retinal flecks, Reduced visual acuity, Attenuation of retinal blood vessels, Retinal ... OMIM:613194
Retinitis Pigmentosa 80
Macular atrophy, Blindness, Progressive visual loss OMIM:617781
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Nyctalopia, Central scotoma, Retinal dystrophy, Photophobia, Optic disc pallor OMIM:616079
Leber Congenital Amaurosis 4
Macular atrophy, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cone/co... OMIM:604393
Retinitis Pigmentosa 35
Cone/cone-rod dystrophy, Blindness, Nyctalopia, Rod-cone dystrophy OMIM:610282
Retinitis Pigmentosa 28
Nyctalopia, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod... OMIM:606068
Retinal Cone Dystrophy 1
Retinal degeneration, Cone/cone-rod dystrophy, Color vision defect, Progressive visual loss, Phot... OMIM:180020
Retinitis Pigmentosa 9
Macular atrophy, Nyctalopia, Bone spicule pigmentation of the retina, Constriction of peripheral ... OMIM:180104
Usher Syndrome, Type Iv
Nyctalopia, Retinal atrophy, Retinal degeneration, Ring scotoma, Constriction of peripheral visua... OMIM:618144
Retinitis Pigmentosa 79
Macular atrophy, Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Phot... OMIM:617460
Retinoschisis 1, X-Linked, Juvenile
Macular atrophy, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Retinal d... OMIM:312700
Retinitis Pigmentosa 4
Nyctalopia, Pigmentary retinopathy, Visual field defect, Blindness, Rod-cone dystrophy OMIM:613731
Cone-Rod Dystrophy 5
Reduced visual acuity, Cone/cone-rod dystrophy, Color vision defect, Photophobia, Macular degener... OMIM:600977
Leber Congenital Amaurosis 19
Attenuation of retinal blood vessels, Optic disc pallor, Retinal degeneration, Visual impairment OMIM:618513
Retinitis Pigmentosa 12
Nyctalopia, Rod-cone dystrophy OMIM:600105
Retinitis Pigmentosa 88
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cystoid macular edema, B... OMIM:618826
Fundus Albipunctatus
Nyctalopia, Fundus albipunctatus, Retinal flecks OMIM:136880
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:300071
Retinitis Pigmentosa 3
Rod-cone dystrophy, Reduced visual acuity OMIM:300029
Cavitary Optic Disc Anomalies
Nyctalopia, Peripapillary atrophy, Visual field defect, Reduced visual acuity OMIM:611543
Chromosome Xp11.3 Deletion Syndrome
Blindness, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:300578
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Reticular pigmentary degeneration, Drusen, Retinal dystrophy OMIM:267800
Macular Dystrophy, Vitelliform, 5
Vitelliform-like macular lesions, Reduced visual acuity, Central scotoma, Moderately reduced visu... OMIM:616152
Retinitis Pigmentosa Inversa With Deafness
Blindness, Retinitis pigmentosa inversa, Rod-cone dystrophy OMIM:268010
Fleck Retina Of Kandori
Blindness, Nyctalopia, Retinal flecks OMIM:228990
Retinitis Pigmentosa 2
Nyctalopia, Pigmentary retinopathy, Myopia, Chorioretinal degeneration, Constriction of periphera... OMIM:312600
Retinitis Pigmentosa
Nyctalopia, Constriction of peripheral visual field, Abnormality of fundus pigmentation, Rod-cone... OMIM:268000
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Paracentral scotoma, Peripheral retinal degeneration, Visual impairment,... OMIM:609021
Retinitis Pigmentosa 73
Nyctalopia, Constriction of peripheral visual field, Retinal atrophy, Rod-cone dystrophy OMIM:616544
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Blindness, Rod-cone dystrophy OMIM:612165
Usher Syndrome, Type Iiia
Nyctalopia, Visual field defect, Rod-cone dystrophy, Reduced visual acuity OMIM:276902
Retinitis Pigmentosa 1
Nyctalopia, Myopia, Constriction of peripheral visual field, Bone spicule pigmentation of the ret... OMIM:180100
Reticular Dystrophy Of Retinal Pigment Epithelium
Nyctalopia, Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Retinitis Pigmentosa 31
Attenuation of retinal blood vessels, Visual field defect, Retinal pigment epithelial atrophy, Ro... OMIM:609923
Ceroid Lipofuscinosis, Neuronal, 6
Progressive visual loss, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Microphthalmia, Isolated 5
Nyctalopia, Optic disc drusen, Rod-cone dystrophy, Reduced visual acuity, Retinal pigment epithel... OMIM:611040
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Macular atrophy, Nyctalopia, Cystoid macular degeneration, Retinal degeneration, Constriction of ... OMIM:267760
Cone-Rod Dystrophy 2
Nyctalopia, Metamorphopsia, Reduced visual acuity, Central scotoma, Retinal pigment epithelial at... OMIM:120970
Cone-Rod Dystrophy 13
Reduced visual acuity, Cone/cone-rod dystrophy, Color vision defect, Visual impairment, Photophob... OMIM:608194
Congenital Stationary Night Blindness
Nyctalopia, Abnormality of retinal pigmentation, Congenital stationary night blindness with norma... ORPHA:215
Exudative Vitreoretinopathy 7
Retinal hole, Vitreoretinopathy, Retinal degeneration OMIM:617572
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Macular Dystrophy, Vitelliform, 3
Macular atrophy, Vitelliform-like macular lesions, Metamorphopsia, Reduced visual acuity, Choroid... OMIM:608161
Persistent Placoid Maculopathy
Abnormal macular morphology, Metamorphopsia, Reduced visual acuity, Scintillating scotoma, Retina... ORPHA:97341
Retinitis Pigmentosa 6
Nyctalopia, Pigmentary retinopathy, Chorioretinal degeneration, Constriction of peripheral visual... OMIM:312612
Macular Dystrophy, Retinal, 1, North Carolina Type
Reduced visual acuity, Central scotoma, Peripheral retinal atrophy, Abnormality of macular pigmen... OMIM:136550
Night Blindness, Congenital Stationary, Type 1G
Blindness, Optic disc pallor, Congenital stationary night blindness OMIM:616389
Usher Syndrome, Type Iid
Blindness, Rod-cone dystrophy OMIM:611383
Retinal Cone Dystrophy 3B
Macular atrophy, Nyctalopia, Scotoma, Myopia, Cone/cone-rod dystrophy, Photophobia OMIM:610356
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Rod-cone dystrophy, Severely reduced visual acuity ORPHA:3011
Cone-Rod Dystrophy 11
Macular atrophy, Photophobia, Cone/cone-rod dystrophy, Slow decrease in visual acuity, Bull's eye... OMIM:610381
Senior-Loken Syndrome 6
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:610189
Jalili Syndrome
Nyctalopia, Cone/cone-rod dystrophy, Monochromacy, Photophobia, Optic disc pallor OMIM:217080
Cone Dystrophy 3
Macular atrophy, Reduced visual acuity, Cone/cone-rod dystrophy, Progressive visual loss, Photoph... OMIM:602093
Retinitis Pigmentosa 36
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Macular degenerati... OMIM:610599
Leber Congenital Amaurosis 14
Nyctalopia, Reduced visual acuity, Congenital blindness, Retinal dystrophy, Photophobia, Rod-cone... OMIM:613341
Retinitis Pigmentosa 51
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, High myopia, Visual impa... OMIM:613464
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 77
Nyctalopia, Retinal atrophy, Reduced visual acuity, Cystoid macular edema, Rod-cone dystrophy OMIM:617304
Bietti Crystalline Corneoretinal Dystrophy
Chorioretinal atrophy, Progressive night blindness, Retinal degeneration, High myopia, Paracentra... OMIM:210370
Leber Congenital Amaurosis 16
Nyctalopia, Reduced visual acuity, Visual impairment, Photophobia, Optic disc pallor OMIM:614186
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Reduced visual acuity, Visual field defect, Visual impairment, ... OMIM:153840
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Congenital stationary night blindness OMIM:163500
Fleck Retina, Familial Benign
Blindness, Retinal flecks OMIM:228980
Leber Hereditary Optic Neuropathy, Autosomal Recessive
Retinal nerve fiber edema, Reduced visual acuity, Central scotoma, Central retinal vessel vascula... OMIM:619382
Wagner Vitreoretinopathy
Exudative vitreoretinopathy, Visual loss, Visual field defect, Retinal pigment epithelial atrophy... OMIM:143200
Retinitis Pigmentosa 45
Nyctalopia, Peripheral visual field loss, Bone spicule pigmentation of the retina, Macular degene... OMIM:613767
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Reduced visual acuity, Peripapillary atrophy, Abnormal flash visual evoked ... OMIM:618195
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinitis Pigmentosa 49
Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Peripheral visual field ... OMIM:613756
Deafness, Autosomal Recessive 37
Rod-cone dystrophy, Congenital stationary night blindness OMIM:607821
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, 2
Macular degeneration OMIM:153800
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Leber Congenital Amaurosis 9
Nyctalopia, Attenuation of retinal blood vessels, Macular coloboma, Hypermetropia, Photophobia, O... OMIM:608553
Usher Syndrome, Type 1M
Nyctalopia, Drusen, Optic disc pallor OMIM:618632
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Retinal pigment epithelial atrophy, Retinal flecks, Reduced visual acuity OMIM:611809
Night Blindness, Congenital Stationary, Type 1D
Blindness, Congenital stationary night blindness OMIM:613830
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Blindness, Congenital stationary night blindness OMIM:610444
Retinitis Pigmentosa 41
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Severely reduced visual... OMIM:612095
Achromatopsia 7
Macular atrophy, Absent foveal reflex, Reduced visual acuity, Central scotoma, Achromatopsia, Pho... OMIM:616517
Leber Congenital Amaurosis 15
Nyctalopia, Pigmentary retinopathy, Myopia, Retinal degeneration, Color vision defect, Constricti... OMIM:613843
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Blindness, Reduced visual acuity, Macular dystrophy OMIM:601553
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Retinitis Pigmentosa 83
Asteroid hyalosis, Nyctalopia, Reduced visual acuity, Attenuation of retinal blood vessels, Cysto... OMIM:618173
Retinitis Pigmentosa 86
Nyctalopia, Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Retina... OMIM:618613
Chromosome Xq21 Deletion Syndrome
Nyctalopia, Chorioretinal atrophy, Chorioretinal degeneration, Constriction of peripheral visual ... OMIM:303110
Retinopathy Of Prematurity
Abnormal macular morphology, Tractional retinal detachment, Blindness, Abnormal retinal vascular ... ORPHA:90050
Ceroid Lipofuscinosis, Neuronal, 2
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Retinal degeneration, Incr... OMIM:204500
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Nyctalopia, Attenuation of retinal blood vessels, Abnormality of the optic nerve, Absent retinal ... ORPHA:436274
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy OMIM:136900
Achromatopsia
Abnormal macular morphology, Absent foveal reflex, Reduced visual acuity, Attenuation of retinal ... ORPHA:49382
Retinitis Pigmentosa 58
Nyctalopia, Attenuation of retinal blood vessels, Severely reduced visual acuity, Peripheral visu... OMIM:613617
Retinitis Pigmentosa 10
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Geographic atrophy, B... OMIM:180105
Ceroid Lipofuscinosis, Neuronal, 7
Visual loss, Pigmentary retinopathy, Cerebral atrophy, Neurodegeneration, Blindness, Cerebellar a... OMIM:610951
Cone-Rod Dystrophy 8
Abnormality of retinal pigmentation, Nyctalopia, Cone/cone-rod dystrophy, Abnormality of the opti... OMIM:605549
Macular Degeneration, Age-Related, 1
Macular hemorrhage, Choroidal neovascularization, Macular drusen, Foveal hypopigmentation, Progre... OMIM:603075
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 66
Nyctalopia, Reduced visual acuity, Central scotoma, Constriction of peripheral visual field, Visu... OMIM:615233
Retinitis Punctata Albescens
Macular atrophy, Nyctalopia, Retinal atrophy, Absent foveal reflex, Pigmentary retinopathy, Atten... ORPHA:52427
Nanophthalmos 4
Optic disc drusen, Visual impairment, Reduced visual acuity OMIM:615972
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, Myopia, Visual impairment, Congenital stationary night blindness OMIM:614565
Retinal Dystrophy And Obesity
Reduced visual acuity, Retinal pigment epithelial atrophy, Myopia, Retinal dystrophy, Retinal det... OMIM:616188
Liberfarb Syndrome
Optic disc pallor, Retinal pigment epithelial mottling, Bone spicule pigmentation of the retina, ... OMIM:618889
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal hole, Reduced visual acuity, Retinal exudate, Retinal detach... OMIM:605750
Cone-Rod Dystrophy 10
Nyctalopia, Cone/cone-rod dystrophy, Peripheral visual field loss, Progressive visual loss, Photo... OMIM:610283
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Blindness, Corticospinal tract atrophy, Retinopathy, Rod-con... OMIM:551500
Retinitis Pigmentosa 56
Nyctalopia, Pigmentary retinopathy, Reduced visual acuity, Attenuation of retinal blood vessels, ... OMIM:613581
Retinitis Pigmentosa 25
Nyctalopia, Attenuation of retinal blood vessels, Chorioretinal atrophy, Constriction of peripher... OMIM:602772
Retinitis Pigmentosa 14
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Retinal arteriolar co... OMIM:600132
Retinitis Pigmentosa 72
Nyctalopia, Reduced visual acuity, Constriction of peripheral visual field, Photophobia, Peripapi... OMIM:616469
Retinitis Pigmentosa 43
Nyctalopia, Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field... OMIM:613810
Tritanopia
Photophobia, Reduced visual acuity, Abnormal retinal morphology, Tritanomaly, Color vision test a... ORPHA:88629
Cone Dystrophy 4
Reduced visual acuity, Dyschromatopsia, Cone/cone-rod dystrophy, Visual impairment, Photophobia OMIM:613093
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Central retinal exudate, Dyschromatopsia, Myopia, Peripheral retinal degeneration, Progressive vi... OMIM:264420
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Optic atrophy, Severely reduced visual acuity OMIM:309555
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Optic Atrophy 12
Abnormal Ishihara plate test, Reduced visual acuity, Dyschromatopsia, Photophobia, Optic atrophy,... OMIM:618977
Retinal Dystrophy With Or Without Macular Staphyloma
Central scotoma, Nyctalopia, Photophobia, Retinal dystrophy OMIM:617547
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Absent foveal reflex, Reduced visual acuity, Peripheral retinal atrophy, Retinal dystrophy, Visua... OMIM:615147
Optic Atrophy 9
Reduced visual acuity, Paracentral scotoma, Visual impairment, Red-green dyschromatopsia, Optic a... OMIM:616289
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Myopia, Visual impairment, Chorioretinal dystrophy ORPHA:75373
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Reduced visual acuity, Visual field defect, Cerebral visual impairment, Visual impairment, Optic ... OMIM:615722
Exudative Vitreoretinopathy 5
Exudative vitreoretinopathy, Tractional retinal detachment, Reduced visual acuity, Retinal exudat... OMIM:613310
Retinitis Pigmentosa 60
Rod-cone dystrophy, Visual impairment, Reduced visual acuity OMIM:613983
Oguchi Disease
Diplopia, Myopia, Mizuo phenomenon, Visual impairment, Congenital stationary night blindness, Mac... ORPHA:75382
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Vis... ORPHA:1852
Night Blindness, Congenital Stationary, Type 1F
Myopia, Congenital stationary night blindness OMIM:615058
Ophthalmoplegia, External, And Myopia
Chorioretinal degeneration, Myopia, Retinal degeneration OMIM:311000
Retinal Capillary Malformation
Retinal capillary hemangioma, Reduced visual acuity, Myopia, Epiretinal membrane, Blurred vision,... ORPHA:71213
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Visual impairment, Reduced visual acuity OMIM:616335
Cone-Rod Dystrophy 20
Reduced visual acuity, Central scotoma, Cone/cone-rod dystrophy, Color vision defect, Constrictio... OMIM:615973
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204100
Gyrate Atrophy Of Choroid And Retina
Blindness, Nyctalopia, Chorioretinal atrophy, Myopia OMIM:258870
Central Retinal Vein Occlusion
Visual loss, Pigmentary retinopathy, Cystoid macular edema, Papilledema, Epiretinal membrane, Ret... ORPHA:411527
Vitreoretinochoroidopathy
Retinal arteriolar occlusion, Nyctalopia, Pigmentary retinopathy, Abnormality of chorioretinal pi... OMIM:193220
Ceroid Lipofuscinosis, Neuronal, 1
Cerebral atrophy, Retinal degeneration, Blindness, Increased neuronal autofluorescent lipopigment... OMIM:256730
Blue Cone Monochromacy
Blue cone monochromacy, Reduced visual acuity, Myopia, Abnormality of macular pigmentation, Visua... OMIM:303700
Retinal Cone Dystrophy 4
Reduced visual acuity, Retinal pigment epithelial mottling, Cone/cone-rod dystrophy, Constriction... OMIM:610478
Optic Atrophy 3, Autosomal Dominant
Scotoma, Optic atrophy, Optic disc pallor, Reduced visual acuity OMIM:165300
Mental Retardation, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Visual impairment, Retinal dystrophy OMIM:610156
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Myopia, Visual impairment, Retinal detachment, Chorioretinal dystrophy OMIM:600790
Cone-Rod Dystrophy 6
Macular atrophy, Reduced visual acuity, Hemeralopia, Progressive night blindness, Cone/cone-rod d... OMIM:601777
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy
Macular atrophy, Optic atrophy, Cranial nerve compression OMIM:250450
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal chorioretinal morphology, Macular scar, Visual ... ORPHA:179
Lattice Degeneration Of Retina Leading To Retinal Detachment
Lattice retinal degeneration, Retinal detachment OMIM:150500
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Chorioretinal atrophy, Myopia, Progressive night blindness, Blindnes... ORPHA:414
Spinocerebellar Ataxia, Autosomal Recessive 12
Cerebellar atrophy, Optic atrophy, Retinal degeneration OMIM:614322
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Visual field defect, Retinal pigment epithelial mottling, Vitritis,... ORPHA:284454
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Irvan Syndrome
Tractional retinal detachment, Reduced visual acuity, Blurred vision, Vitreous floaters, Retinal ... ORPHA:209943
Cone-Rod Dystrophy, X-Linked, 3
Absent foveal reflex, Reduced visual acuity, Central scotoma, Myopia, Cone/cone-rod dystrophy, Co... OMIM:300476
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Drusen, Blindness, Rod-cone dystrophy, Optic disc pallor OMIM:616394
Bardet-Biedl Syndrome 3
Nyctalopia, Rod-cone dystrophy, Pigmentary retinopathy, Visual impairment OMIM:600151
Bardet-Biedl Syndrome 21
Retinal atrophy, Myopia, Retinal thinning, Cone/cone-rod dystrophy, Blindness, Constriction of pe... OMIM:617406
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen
Cone/cone-rod dystrophy, Visual loss, Cone dystrophy, Retinal detachment OMIM:304030
Severe Early-Childhood-Onset Retinal Dystrophy
Retinal pigment epithelial mottling, Chorioretinal atrophy, Color vision defect, Visual impairmen... ORPHA:364055
Exudative Vitreoretinopathy 4
Exudative vitreoretinopathy, Tractional retinal detachment, Falciform retinal fold, Reduced visua... OMIM:601813
Optic Atrophy 1
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Tritanomaly, Visual impairment, Red-... OMIM:165500
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Retinal nonattachment, Abnormality of vision, Visual field defe... ORPHA:99000
Ceroid Lipofuscinosis, Neuronal, 3
Increased extraneuronal autofluorescent lipopigment, Cerebral atrophy, Blindness, Increased neuro... OMIM:204200
Enhanced S-Cone Syndrome
Nyctalopia, Pigmentary retinopathy, Hemeralopia, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Color vision defect, Photophobia, Visual impairment, Congenital stationary night blindness OMIM:610427
Retinitis Pigmentosa 89
Nyctalopia, Retinal thinning, Constriction of peripheral visual field, Hyperautofluorescent retin... OMIM:618955
Night Blindness, Congenital Stationary, Type1I
Nyctalopia, Tritanomaly OMIM:618555
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Falciform retinal fold, Reduced visual acuity, Vitreous hemorrhage, ... OMIM:133780
Ceroid Lipofuscinosis, Neuronal, 5
Progressive visual loss, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Reti... OMIM:256731
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Nyctalopia, Mild myopia, Hypermetropia OMIM:617024
Ceroid Lipofuscinosis, Neuronal, 10
Visual loss, Retinal atrophy, Cerebral atrophy, Cerebellar atrophy, Increased neuronal autofluore... OMIM:610127
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Chorioretinal atrophy, Myopia, Posterior vitreous detachment, Retina... OMIM:616468
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Progressive night blindness, Patchy atrophy of the retinal pigment epithelium, Constriction of pe... ORPHA:436245
Idiopathic Uveal Effusion Syndrome
Retinal fold, Metamorphopsia, Reduced visual acuity, Visual field defect, Blurred vision, Subreti... ORPHA:209956
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Progressive night blindness, Blindness, Abnormal retinal vas... ORPHA:791
Night Blindness, Congenital Stationary, Type 1B
Hemeralopia, Nyctalopia, Myopia, Congenital stationary night blindness OMIM:257270
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Blindness, Vitreoretin... OMIM:193235
Developmental And Epileptic Encephalopathy 28
Optic atrophy, Retinal degeneration, Cerebral atrophy OMIM:616211
Leber Congenital Amaurosis 3
Nyctalopia, Visual loss, Constriction of peripheral visual field OMIM:604232
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Cone-Rod Dystrophy And Hearing Loss 1
Retinal atrophy, Hemeralopia, Dyschromatopsia, Visual impairment, Photophobia, Macular degeneration OMIM:617236
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Nyctalopia, Abnormality of retinal pigmentation, Myopia, Abnormal retinal vascular morphology ORPHA:1390
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Visual loss, Abnormality of retinal pigmentation, Nyctalopia, ... ORPHA:5
Retinitis Pigmentosa And Erythrocytic Microcytosis
Photoreceptor layer loss on macular OCT, Nyctalopia, Retinal atrophy, Retinal pigment epithelial ... OMIM:616959
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures
Reduced visual acuity, Central scotoma, Color vision defect, Photophobia, Blind-spot enlargment, ... OMIM:616732
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Reduced visual acuity, Blindness, Fundus atrophy, Photophobia OMIM:204000
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
X-Linked Neurodegenerative Syndrome, Bertini Type
Macular degeneration ORPHA:85334
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Retinitis Pigmentosa 84
Macular atrophy, Rod-cone dystrophy, Macular coloboma OMIM:618220
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Visual impairment, Optic atrophy, Abnormality of ... ORPHA:141
Ataxia With Vitamin E Deficiency
Nyctalopia, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Visual ... ORPHA:96
Usher Syndrome Type 1
Nyctalopia, Visual loss, Scotoma, Subcortical cerebral atrophy, Cerebral cortical atrophy, High h... ORPHA:231169
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Macular atrophy, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, R... OMIM:145350
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Retinal degeneration OMIM:615993
Oculocutaneous Albinism Type 6
Photophobia, Reduced visual acuity, Abnormal foveal morphology on macular OCT, Abnormal fundus mo... ORPHA:370097
Diabetes And Deafness, Maternally Inherited
Constriction of peripheral visual field, Pigmentary retinopathy, Retinal degeneration OMIM:520000
Åland Islands Eye Disease
Reduced visual acuity, Myopia, Difficulty adjusting from light to dark, Hypopigmentation of the f... ORPHA:178333
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Myopia, Reduced visual acuity OMIM:602499
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Macular atrophy, Cerebral atrophy, Cerebellar atrophy, Visual impairment, Optic atrophy, Retinopa... OMIM:616171
Retinitis Pigmentosa 46
Abnormality of retinal pigmentation, Attenuation of retinal blood vessels, Constriction of periph... OMIM:612572
Posterior Column Ataxia With Retinitis Pigmentosa
Nyctalopia, Decreased sensory nerve conduction velocity, Pigmentary retinopathy, Attenuation of r... OMIM:609033
Albinism, Oculocutaneous, Type Vi
Photophobia, Hypoplasia of the fovea, Visual impairment, Reduced visual acuity OMIM:113750
Narp Syndrome
Retinal pigment epithelial mottling, Abnormal visual field test, Blindness, Cerebral cortical atr... ORPHA:644
Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration
Drusen, Macular degeneration, Choroidal neovascularization, Decreased nerve conduction velocity OMIM:608895
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Reduced visual acuity, Blindness, Vitreoretinopathy, Abnormality of the optic disc, Retinal vascu... ORPHA:440727
Intellectual Developmental Disorder With Cardiac Arrhythmia
Retinal degeneration OMIM:617173
Spondylometaphyseal Dysplasia, Axial
Optic atrophy, Rod-cone dystrophy, Retinal degeneration OMIM:602271
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration
Retinal degeneration OMIM:225755
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Retinal hole, Falciform retinal fold, Reduced visual acuity, Subreti... OMIM:305390
Night Blindness, Congenital Stationary, Type 1C
Reduced visual acuity, Myopia, Congenital stationary night blindness OMIM:613216
Sjogren-Larsson Syndrome
Photophobia, Retinal pigment epithelial atrophy, Macular degeneration, Retinal thinning OMIM:270200
Poretti-Boltshauser Syndrome
Retinal atrophy, Myopia, Retinal thinning, Retinal dystrophy, Amblyopia OMIM:615960
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Retinal degeneration OMIM:275400
Optic Atrophy 8
Visual loss, Prolonged somatosensory evoked potentials, Central scotoma, Abnormality of pattern v... OMIM:616648
Infantile Refsum Disease
Nyctalopia, Facial palsy, Constriction of peripheral visual field, Visual impairment, Optic atrop... ORPHA:772
Foveal Hypoplasia 2
Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting, Visual impairment, Hypop... OMIM:609218
Mucolipidosis Iv
Retinal degeneration, Cerebellar atrophy, Visual impairment, Photophobia, Optic atrophy OMIM:252650
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness, Retinal detachment ORPHA:436182
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Macular atrophy, Rod-cone dystrophy, Optic disc pallor, Reduced visual acuity OMIM:615434
Hypobetalipoproteinemia, Familial, 1
Rod-cone dystrophy, Retinal degeneration OMIM:615558
Optic Atrophy 7 With Or Without Auditory Neuropathy
Reduced visual acuity, Central scotoma, Dyschromatopsia, Constriction of peripheral visual field,... OMIM:612989
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Nephronophthisis 14
Retinal degeneration OMIM:614844
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Blindness, Visual loss, Optic atrophy, Progressive visual loss OMIM:601338
Usher Syndrome Type 3
Nyctalopia, Visual loss, Scotoma, High hypermetropia, Hemianopia ORPHA:231183
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Visual loss, Optic atrophy, Retinal degeneration OMIM:300438
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Reduced visual acuity, Central scotoma, Centrocecal scotoma, Tritanomaly, Abnormal auditory evoke... OMIM:125250
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal pigment epithelial atrophy, Vitritis, Visual impairment OMIM:605808
Spinocerebellar Ataxia 7
Progressive visual loss, Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Cerebral atrophy, Reduced visual acuity OMIM:618770
Early-Onset X-Linked Optic Atrophy
Reduced visual acuity, Central scotoma, Color vision defect, Progressive visual loss, Decreased n... ORPHA:98890
Neovascular Glaucoma
Visual acuity test abnormality, Retinal vein occlusion, Abnormal posterior eye segment morphology... ORPHA:94058
Refsum Disease, Classic
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Visual loss, Nyctalopia, Myopia, Cone/cone-rod dystrophy, Color vision defect, Peripheral visual ... ORPHA:85167
Norrie Disease
Retinal dysplasia, Blindness, Retinal detachment, Optic atrophy, Retinal fold OMIM:310600
Bornholm Eye Disease
Protanopia, Abnormality of retinal pigmentation, Amblyopia, High myopia, Optic nerve hypoplasia, ... OMIM:300843
Oculocutaneous Albinism, Type Viii
Photophobia, Hypoplasia of the fovea, Chorioretinal hypopigmentation, Reduced visual acuity OMIM:619165
Leber Congenital Amaurosis 8
Choriocapillaris atrophy, High hypermetropia, Visual impairment, Reduced visual acuity OMIM:613835
Hypotrichosis With Juvenile Macular Degeneration
Blindness, Macular degeneration, Abnormality of macular pigmentation ORPHA:1573
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Macular atrophy, Chorioretinal coloboma, Retinal detachment, Retinal dystrophy OMIM:212550
Cohen Syndrome
Nyctalopia, Reduced visual acuity, Bull's eye maculopathy, Myopia, Visual impairment, Optic atrop... OMIM:216550
Blindness-Scoliosis-Arachnodactyly Syndrome
Blindness, Abnormality of retinal pigmentation, Visual loss, Retinal detachment ORPHA:171844
Bardet-Biedl Syndrome 2
Rod-cone dystrophy, Retinal degeneration OMIM:615981
Retinal Aplasia
Congenital blindness OMIM:179900
Spastic Paraplegia 11, Autosomal Recessive
Degeneration of the lateral corticospinal tracts, Retinal degeneration, Cerebral cortical atrophy... OMIM:604360
Optic Pathway Glioma
Visual loss, Reduced visual acuity, Visual field defect, Papilledema, Blindness, Optic atrophy ORPHA:2086
Refsum Disease
Abnormality of retinal pigmentation, Nyctalopia, Abnormality of vision, Visual impairment, Progre... ORPHA:773
Cancer-Associated Retinopathy
Visual loss, Vitritis, Retinal atrophy, Diffuse cerebellar atrophy, Reduced visual acuity, Centra... ORPHA:71505
Joubert Syndrome 35
Nyctalopia, Rod-cone dystrophy, Progressive visual loss OMIM:618161
Usher Syndrome
Nyctalopia, Abnormality of retinal pigmentation, Visual field defect, Myopia, Blindness, Cerebral... ORPHA:886
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Myopia, Retinal dystrophy, Amblyopia, Hypermetropia ORPHA:370022
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Nyctalopia, Visual loss, Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Bone... ORPHA:88628
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Nyctalopia, Optic atrophy ORPHA:99947
Idiopathic Panuveitis
Vitreous haze, Reduced visual acuity, Abnormality of vision, Vitreous snowballs, Epiretinal membr... ORPHA:280921
Sandhoff Disease
Blindness, Cherry red spot of the macula ORPHA:796
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Retinopathy, Pigmentary, And Mental Retardation
Visual impairment, Myopia, Pigmentary retinopathy, Reduced visual acuity OMIM:268050
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots, Retinal detachment OMIM:193230
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Retinal degeneration OMIM:214980
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms, Retinal detachment OMIM:614224
Immunoneurologic Disorder, X-Linked
Nyctalopia OMIM:300076
Krabbe Disease
Neurodegeneration, Blindness, Diffuse cerebral atrophy, Decreased nerve conduction velocity, Opti... OMIM:245200
Leukodystrophy, Hypomyelinating, 14
Blindness, Cerebellar atrophy, Cerebral atrophy OMIM:617899
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Macular atrophy, Attenuation of retinal blood vessels, Cerebral atrophy, Retinal degeneration, Br... OMIM:619260
Juvenile Neuronal Ceroid Lipofuscinosis
Visual loss, Pigmentary retinopathy, Cerebral atrophy, Retinal degeneration, Blindness, Cerebella... ORPHA:79264
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Visual impairment, Reduced visual acuity OMIM:258501
Combined Oxidative Phosphorylation Deficiency 37
Cerebellar atrophy, Optic atrophy, Retinal degeneration, Visual impairment OMIM:618329
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features
Macular degeneration OMIM:612948
Spastic Paraplegia 15, Autosomal Recessive
Reduced visual acuity, Macular degeneration, Retinal degeneration, Visual impairment OMIM:270700
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Atypical Pantothenate Kinase-Associated Neurodegeneration
Blindness, Optic atrophy, Retinopathy ORPHA:216873
Sjögren-Larsson Syndrome
Abnormality of retinal pigmentation, Myopia, Photophobia, Retinopathy, Macular degeneration ORPHA:816
Late Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Corpus callosum atrophy, Reduced visual acuity, Cerebral atrophy, Myopia, Retinal de... ORPHA:168491
X-Linked Immunoneurologic Disorder
Nyctalopia ORPHA:2571
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Nyctalopia, Retinal degeneration OMIM:615630
Lowry-Wood Syndrome
Nyctalopia, Peripheral visual field loss, Pigmentary retinopathy OMIM:226960
Thiamine-Responsive Megaloblastic Anemia Syndrome
Cone/cone-rod dystrophy, Visual loss, Optic atrophy, Retinal degeneration OMIM:249270
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Nyctalopia, Visual field defect, Retinal degeneration, Abnormality of pattern visual evoked poten... ORPHA:166035
Abetalipoproteinemia
Retinopathy, Retinal degeneration OMIM:200100
Bardet-Biedl Syndrome 17
Cone/cone-rod dystrophy, Retinal degeneration OMIM:615994
Pantothenate Kinase-Associated Neurodegeneration
Nyctalopia, Pigmentary retinopathy, Retinal flecks, Pallidal degeneration, Visual field defect, R... ORPHA:157850
Migraine, Familial Hemiplegic, 3
Blindness, Photophobia OMIM:609634
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Chorioretinal atrophy, Nummular pigmentation of the fundus, Peripheral vi... OMIM:618697
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Abnormal vitreous humor morphology, Congenital blindness, Severely r... ORPHA:2788
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Blindness, Optic nerve hypoplasia, Myopia, Retinal detachment OMIM:615181
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Rod-cone dystrophy, Reduced visual acuity OMIM:619082
Oculocutaneous Albinism Type 5
Photophobia, Reduced visual acuity, Ocular albinism, Abnormal fundus morphology, Hypoplasia of th... ORPHA:370091
Severe Canavan Disease
Blindness, Optic atrophy ORPHA:314911
Hsd10 Disease, Infantile Type
Visual loss, Cerebral atrophy, Neurodegeneration, Retinal degeneration, Frontotemporal cerebral a... ORPHA:391428
Usher Syndrome Type 2
Nyctalopia, Visual loss, Scotoma, Myopia, Subcortical cerebral atrophy, Cerebral cortical atrophy... ORPHA:231178
Oculocutaneous Albinism Type 1
Reduced visual acuity, Abnormal morphology of the choroidal vasculature, Amblyopia, Depigmented f... ORPHA:352731
Coloboma Of Optic Nerve
Retinal detachment OMIM:120430
Retinal Detachment
Retinal detachment OMIM:180050
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Retinal coloboma, Chorioretinal coloboma, Moderately reduced visual acuity, Severely reduced visu... ORPHA:2921
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Reduced visual acuity, Optic disc hypoplasia, Peripheral vitreous opaciti... ORPHA:137902
Autosomal Dominant Optic Atrophy Plus Syndrome
Abnormal retinal nerve fiber layer morphology, Temporal optic disc pallor, Absent brainstem audit... ORPHA:1215
Optic Nerve Hypoplasia, Bilateral
Remnants of the hyaloid vascular system, Reduced visual acuity, Morning glory anomaly, Optic nerv... OMIM:165550
Stickler Syndrome, Type V
High myopia, Vitreoretinopathy, Retinal detachment OMIM:614284
Bardet-Biedl Syndrome 9
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:615986
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Morning Glory Disc Anomaly
Optic disc coloboma, Abnormality of retinal pigmentation, Amblyopia, Retinal detachment ORPHA:35737
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Nyctalopia, Hypoautofluorescent retinal lesion, Retinal degeneration, Peripheral visual field los... OMIM:250410
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Congenital blindness, Retinal dystrophy OMIM:263100
Microcephaly 20, Primary, Autosomal Recessive
Blindness, Optic nerve hypoplasia OMIM:617914
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Retinal degeneration OMIM:616896
Wolfram Syndrome, Mitochondrial Form
Blindness, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Sarcosinemia
Congenital blindness, Optic atrophy ORPHA:3129
Retinal Dystrophy With Or Without Extraocular Anomalies
Reduced visual acuity, Retinal dystrophy OMIM:617175
Retinitis Pigmentosa 75
Nyctalopia, Myopia, Peripheral visual field loss OMIM:617023
Myopathy, Tubular Aggregate, 1
Nyctalopia OMIM:160565
Senior-Loken Syndrome 8
Macular atrophy, Visual impairment, Reduced visual acuity OMIM:616307
Joubert Syndrome 6
Blindness, Chorioretinal coloboma, Retinal degeneration OMIM:610688
Night Blindness, Congenital Stationary, Type 1A
High myopia, Hemeralopia, Myopia, Congenital stationary night blindness OMIM:310500
Scheie Syndrome
Retinal degeneration OMIM:607016
Congenital Bile Acid Synthesis Defect Type 1
Nyctalopia ORPHA:79301
Xylosidase Deficiency
Blindness OMIM:278900
Canavan Disease
Blindness, Optic atrophy, Brain atrophy OMIM:271900
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Peripheral vitreoretinal degeneration, Retinal detachment OMIM:614292
Maternal Uniparental Disomy Of Chromosome 4
Nyctalopia, Pigmentary retinopathy, Visual field defect, Optic atrophy, Rod-cone dystrophy ORPHA:96180
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome
Cerebral cortical atrophy, Macular degeneration, Choroidal neovascularization ORPHA:404451
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Photophobia, Optic disc pallor, Reduced visual acuity OMIM:618527
Cataract 11, Multiple Types
Blindness OMIM:610623
Xq21 Microdeletion Syndrome
Abnormal chorioretinal morphology, Visual acuity test abnormality, Reduced visual acuity, Progres... ORPHA:1435
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Reduced visual acuity, Retinal degeneration, Visual impairment OMIM:615249
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly
Retinal degeneration OMIM:613819
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Spinocerebellar Ataxia Type 7
Visual loss, Photophobia, Reduced visual acuity, Hemeralopia, Cerebral atrophy, Cone/cone-rod dys... ORPHA:94147
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Amblyopia, Abnormality of visual evoked potentials, Optic disc pallor OMIM:617523
Oguchi Disease 1
Hemeralopia, Congenital stationary night blindness OMIM:258100
Disorder Of Bile Acid Synthesis
Nyctalopia ORPHA:79168
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy
Blindness OMIM:607674
Classic Pantothenate Kinase-Associated Neurodegeneration
Rod-cone dystrophy, Blindness, Pigmentary retinopathy, Optic disc pallor ORPHA:216866
Mohr-Tranebjaerg Syndrome
Visual loss, Global brain atrophy, Central scotoma, Color vision defect, Absent brainstem auditor... ORPHA:52368
Infantile Neuronal Ceroid Lipofuscinosis
Visual loss, Cerebral atrophy, Progressive visual field defects, Brain atrophy, Blindness, Cerebr... ORPHA:79263
Senior-Loken Syndrome 9
Macular degeneration, Rod-cone dystrophy, Retinal dystrophy OMIM:616629
Leukoencephalopathy With Vanishing White Matter
Blindness, Optic atrophy OMIM:603896
Non-Specific Early-Onset Epileptic Encephalopathy
Abnormality of vision, Cerebral atrophy, Retinal degeneration, Brain atrophy, Optic atrophy ORPHA:442835
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Central scotoma, Color vision defect, Slow decrease in... OMIM:601152
Neurodegeneration With Brain Iron Accumulation 2A
Visual loss, Cerebral atrophy, Neurodegeneration, Cerebellar atrophy, Abnormality of visual evoke... OMIM:256600
Aceruloplasminemia
Retinal degeneration OMIM:604290
Paget Disease Of Bone 5, Juvenile-Onset
Macular scar, Angioid streaks of the fundus, Retinopathy, Retinal degeneration OMIM:239000
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Nyctalopia OMIM:277350
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Retinal dysplasia, Blindness, Optic nerve dysplasia OMIM:615287
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Reduced visual acuity, Ocular albinism, Optic nerve misrouti... ORPHA:79435
Congenital Primary Aphakia
Retinal dysplasia, Abnormality of vision ORPHA:83461
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Cerebellar atrophy, Diplopia, Macular degeneration ORPHA:284289
Pseudoxanthoma Elasticum
Optic disc drusen, Retinal peau d'orange, Reduced visual acuity, Choroidal neovascularization, Re... OMIM:264800
Pyruvate Dehydrogenase E2 Deficiency
Neurodegeneration, Peripheral visual field loss, Retinal degeneration ORPHA:79244
Methanol Poisoning
Abnormality of the optic nerve, Blurred vision, Blindness, Visual impairment ORPHA:31825
Werner Syndrome
Retinal degeneration OMIM:277700
Aica-Ribosuria Due To Atic Deficiency
Congenital blindness, Optic atrophy OMIM:608688
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Visual loss, Nonarteritic anterior ischemic optic neuropathy, Abnormality of visual evoked potent... OMIM:125310
Pseudoxanthoma Elasticum, Forme Fruste
Reduced visual acuity, Myopia, Retinal hemorrhage, Visual impairment, Angioid streaks of the fund... OMIM:177850
Autosomal Recessive Spastic Paraplegia Type 11
Orthostatic hypotension, Frontal cortical atrophy, Atrophy of the spinal cord, Retinal degenerati... ORPHA:2822
Saul-Wilson Syndrome
Nyctalopia OMIM:618150
Albers-Schönberg Osteopetrosis
Blindness, Optic atrophy, Facial palsy, Visual impairment ORPHA:53
Friedreich Ataxia
Decreased amplitude of sensory action potentials, Decreased sensory nerve conduction velocity, Re... OMIM:229300
Abetalipoproteinemia
Abnormality of retinal pigmentation, Nyctalopia, Scotoma, Hypopigmentation of the fundus, Color v... ORPHA:14
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness, Retinal dystrophy ORPHA:713
Infantile Neuroaxonal Dystrophy
Abnormal autonomic nervous system physiology, Blindness, Cerebellar atrophy, Abnormality of perip... ORPHA:35069
Oculocutaneous Albinism Type 1A
Ocular albinism, Abnormality of the optic nerve, Visual impairment, Photophobia, Hypoplasia of th... ORPHA:79431
Papillorenal Syndrome
Retinal coloboma, Chorioretinal atrophy, Morning glory anomaly, Macular hyperpigmentation, Retina... OMIM:120330
Coloboma, Ocular, Autosomal Recessive
Retinal coloboma, Reduced visual acuity OMIM:216820
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Blindness, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the... ORPHA:77299
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Corpus callosum atrophy, Cerebral atrophy, Myopia, Brain atrophy, Cerebellar atrophy, Cerebral vi... OMIM:616875
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Blindness, Visual impairment, Optic atrophy, Abnormali... ORPHA:1187
Sturge-Weber Syndrome
Abnormality of vision, Abnormal choroid morphology, Blindness, Cerebral cortical atrophy, Abnorma... ORPHA:3205
Intermediate Uveitis
Macular scar, Vitreous haze, Reduced visual acuity, Vitreous snowballs, Cystoid macular edema, Ep... ORPHA:279914
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Blindness, Pigmentary retinopathy OMIM:560000
Freesia Flowers, Inability To Smell
Blindness OMIM:229250
Osteopetrosis, Autosomal Recessive 2
Blindness, Optic atrophy, Facial paralysis, Cranial nerve compression OMIM:259710
Cach Syndrome
Cerebral atrophy, Optic neuritis, Blindness, Cerebellar atrophy, Cerebellar vermis atrophy, Atrop... ORPHA:135
Dermatoosteolysis, Kirghizian Type
Nyctalopia ORPHA:1657
Hyper-Igd Syndrome
Nyctalopia, Rod-cone dystrophy, Optic disc pallor OMIM:260920
Mucopolysaccharidosis Type 3
Nyctalopia, Pigmentary retinopathy, Myopia, Retinal degeneration, Blindness, Constriction of peri... ORPHA:581
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Myopia, Abnormality of visual evoked potentials ORPHA:2971
Isolated Succinate-Coq Reductase Deficiency
Blindness, Pigmentary retinopathy, Reduced visual acuity ORPHA:3208
Mucopolysaccharidosis Type 2
Abnormality of retinal pigmentation, Nyctalopia, Abnormal foveal morphology, Papilledema, Retinal... ORPHA:580
Late-Infantile/Juvenile Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, Blindness, Visual impairment, Decrea... ORPHA:206443
Stickler Syndrome, Type I
Blindness, Myopia, Retinal detachment, Membranous vitreous appearance OMIM:108300
Mucolipidosis Iii Alpha/Beta
Retinopathy, Retinal degeneration OMIM:252600
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Remnants of the hyaloid vascular system, Reduced visual acuity, Morning g... OMIM:120200
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome
Retinal degeneration ORPHA:542306
Congenital Muscular Dystrophy With Cerebellar Involvement
Myopia, Blindness, Optic nerve hypoplasia, Retinal detachment, Optic atrophy ORPHA:370959
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Blindness, Cerebral atrophy OMIM:250940
Hermansky-Pudlak Syndrome 8
Reduced visual acuity, Myopia, Ocular albinism, Visual impairment, Hypermetropia, Hypoplasia of t... OMIM:614077
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Blindness, Cerebral atrophy OMIM:236270
Alpers-Huttenlocher Syndrome
Blindness, Abnormality of vision ORPHA:726
Tay-Sachs Disease
Blindness, Cherry red spot of the macula OMIM:272800
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Blindness, Optic atrophy, Spinocerebellar atrophy ORPHA:95433
Joubert Syndrome With Oculorenal Defect
Chorioretinal coloboma, Aganglionic megacolon, Retinal dystrophy, Blindness, Visual impairment ORPHA:2318
Cherubism
Macular scar, Reduced visual acuity, Constriction of peripheral visual field, Optic neuropathy, V... OMIM:118400
Achromatopsia 2
Blindness, Hemeralopia, Achromatopsia, Photophobia OMIM:216900
Bardet-Biedl Syndrome 1
Aganglionic megacolon, Myopia, Retinal degeneration, Retinal dystrophy, Rod-cone dystrophy OMIM:209900
Knobloch Syndrome
Visual loss, Abnormal vitreous humor morphology, Myopia, Vitreoretinopathy, Retinal detachment, P... ORPHA:1571
Infantile Krabbe Disease
Visual loss, Prolonged brainstem auditory evoked potentials, Blindness, Diffuse cerebral atrophy,... ORPHA:206436
Severe X-Linked Intellectual Disability, Gustavson Type
Blindness, Optic atrophy, Brain atrophy ORPHA:3078
Musk, Inability To Smell
Blindness OMIM:254150
Spinocerebellar Ataxia, Autosomal Recessive 3
Blindness OMIM:271250
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Corpus callosum atrophy, Diffuse cerebellar atrophy, Cerebral atrophy, Myopia, Cerebral visual im... ORPHA:480898
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Visual impairment, Decreased nerve conduction velocity, Optic atrophy, Abnorm... ORPHA:485421
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive
Blindness OMIM:614514
Cinca Syndrome
Pseudopapilledema, Retrobulbar optic neuritis, Blindness, Visual impairment ORPHA:1451
Osteopetrosis, Autosomal Recessive 1
Facial paralysis, Blindness, Facial palsy, Visual impairment, Optic atrophy OMIM:259700
Multiple Sulfatase Deficiency
Cerebellar atrophy, Cerebral atrophy, Retinal degeneration OMIM:272200
Pelizaeus-Merzbacher Disease
Cerebral cortical atrophy, Optic atrophy, Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Mucopolysaccharidosis Type 2, Severe Form
Abnormality of retinal pigmentation, Nyctalopia, Abnormal foveal morphology, Papilledema, Periphe... ORPHA:217085
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormality of retinal pigmentation, Nyctalopia, Abnormal foveal morphology, Papilledema, Periphe... ORPHA:217093
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Central scotoma, Blindness, Cerebellar atrophy, Diffuse cerebral atrophy, Visual impairment, Opti... ORPHA:543470
Nephronophthisis 11
Retinal degeneration OMIM:613550
Aceruloplasminemia
Abnormality of retinal pigmentation, Macular degeneration, Retinal degeneration ORPHA:48818
Autosomal Dominant Cerebellar Ataxia
Visual loss, Macular degeneration, Pigmentary retinopathy, Retinal degeneration ORPHA:99
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Visual loss, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Cer... ORPHA:247234
Amyloidosis Of Gingiva And Conjunctiva, With Mental Retardation
Blindness OMIM:204850
Dermatoosteolysis, Kirghizian Type
Blindness OMIM:221810
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency
Parietal cortical atrophy, Retinal atrophy, Corpus callosum atrophy, Cerebellar atrophy ORPHA:412057
Non-24-Hour Sleep-Wake Syndrome
Blindness ORPHA:73267
Alstrom Syndrome
Visual loss, Pigmentary retinopathy, Cone/cone-rod dystrophy, Blindness, Constriction of peripher... OMIM:203800
Neurofibromatosis Type 2
Visual loss, Remnants of the hyaloid vascular system, Diplopia, Bilateral vestibular Schwannoma, ... ORPHA:637
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Nyctalopia, Retinal dystrophy, Optic nerve hypoplasia, Cerebellar cortical atrophy, Optic atrophy OMIM:619321
Mannosidosis, Alpha B, Lysosomal
Cerebral cortical atrophy, Cerebellar atrophy, Corpus callosum atrophy, Retinal degeneration OMIM:248500
Momo Syndrome
Retinal coloboma, Blindness OMIM:157980
Alpha-N-Acetylgalactosaminidase Deficiency
Blindness, Cerebral cortical atrophy ORPHA:3137
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Enlarged flash visual evoked potentials, Myopia, Retinal degeneration, Retinal d... OMIM:253280
Hermansky-Pudlak Syndrome 1
Blindness, Ocular albinism, Severely reduced visual acuity OMIM:203300
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Pigmentary retinopathy, Cerebral atrophy, Atrophy of the spinal cord, Retinal degeneration, Abnor... ORPHA:79282
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Abnormality of retinal pigmentation, Visual loss, Chorioretinal dysplasia, Abnormality of vision,... ORPHA:2526
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Retinal atrophy, Myopia, Retinal dysplasia, Blindness, Optic nerve hypoplasia, Retinal detachment... OMIM:236670
Kniest Dysplasia
Lattice retinal degeneration, Degenerative vitreoretinopathy, High myopia, Rhegmatogenous retinal... ORPHA:485
Corneodermatoosseous Syndrome
Photophobia, Nyctalopia, Hemeralopia ORPHA:3194
White-Sutton Syndrome
Myopia, Subcortical cerebral atrophy, Blindness, Cerebral cortical atrophy, Cerebellar atrophy, V... ORPHA:468678
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
High myopia, Blindness, Optic atrophy, Cerebral atrophy OMIM:220500
Zika Virus Disease
Macular atrophy, Absent foveal reflex, Optic disc hypoplasia, Chorioretinal atrophy, Retinal pigm... ORPHA:448237
Hurler Syndrome
Neurodegeneration, Retinal degeneration OMIM:607014
Deafness-Hypogonadism Syndrome
Congenital stationary night blindness ORPHA:90646
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Retinal degeneration, Visual impairment OMIM:618479
Maternal Uniparental Disomy Of Chromosome 2
Retinal degeneration ORPHA:96179
Trichothiodystrophy
Diffuse cerebellar atrophy, Myopia, Retinal degeneration, Cerebral cortical atrophy, Photophobia,... ORPHA:33364
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Blindness OMIM:618731
Herpes Simplex Virus Stromal Keratitis
Blindness, Reduced visual acuity ORPHA:137599
Cockayne Syndrome Type 3
Retinal atrophy, Retinal degeneration, Retinal dystrophy, Brain atrophy, Hypermetropia, Abnormali... ORPHA:90324
Ophthalmomandibulomelic Dysplasia
Blindness ORPHA:2741
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials, Redu... ORPHA:309256
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials, Redu... ORPHA:309263
Gm1 Gangliosidosis
Retinopathy of prematurity, Blindness, Abnormal retinal vascular morphology, Optic atrophy, Cherr... ORPHA:354
Adrenoleukodystrophy
Blindness, Visual loss, Neurodegeneration OMIM:300100
Cryptococcosis