Gene Summary

Name:
calcium channel, voltage-dependent, alpha 1F subunit
Synonyms:
Cav1.4,  Sfc17

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
increased circulating insulin level Cacna1ftm1.1(KOMP)Vlcg HOM Early adult 1.99×10-12
abnormal heart morphology Cacna1ftm1.1(KOMP)Vlcg HOM Early adult 0.00
abnormal eye morphology Cacna1ftm1.1(KOMP)Vlcg HEM Early adult 0.00
abnormal eye morphology Cacna1ftm1.1(KOMP)Vlcg HOM Early adult 0.00
absent optic nerve Cacna1ftm1.1(KOMP)Vlcg HOM Early adult 0.00
hyperactivity Cacna1ftm1.1(KOMP)Vlcg HOM Early adult 2.82×10-06
increased circulating creatinine level Cacna1ftm1.1(KOMP)Vlcg HEM Early adult 6.24×10-05
enlarged heart Cacna1ftm1.1(KOMP)Vlcg HOM Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

10 Images

X-ray

XRay Images Whole Body Dorso Ventral

10 Images

Histopathology

Images

4 Images

Human diseases caused by Cacna1f 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 predicted to be associated to Cacna1f by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinitis Pigmentosa 42
Peripapillary atrophy, Cystoid macular edema, Reduced visual acuity, Rod-cone dystrophy, Perifove... OMIM:612943
Cone-Rod Dystrophy 9
Visual impairment, Cone/cone-rod dystrophy OMIM:612775
Central Areolar Choroidal Dystrophy
Slow decrease in visual acuity, Hypopigmentation of the fundus, Retinal pigment epithelial mottli... ORPHA:75377
Sorsby Pseudoinflammatory Fundus Dystrophy
Choroidal neovascularization, Pigmentary retinopathy, Abnormal fundus autofluorescence imaging, H... ORPHA:59181
Stargardt Disease 3
Reduced visual acuity, Macular flecks, Macular dystrophy, Macular atrophy, Visual impairment OMIM:600110
Macular Dystrophy, Patterned, 2
Foveal hyperpigmentation, Reduced visual acuity, Drusen, Pattern dystrophy of the retina OMIM:608970
Macular Dystrophy, Patterned, 3
Choroidal neovascularization, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy OMIM:617111
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Subretinal fluid, Reduced visual acuity, Macular dystrophy, Visual ... OMIM:153700
Macular Dystrophy, Retinal, 1, North Carolina Type
Abnormality of macular pigmentation, Dyschromatopsia, Peripheral retinal atrophy, Central scotoma... OMIM:136550
Macular Dystrophy, Retinal, 2
Dyschromatopsia, Central scotoma, Reduced visual acuity, Granular macular appearance, Macular dys... OMIM:608051
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Blindness, Rod-cone dystrophy OMIM:612165
Macular Dystrophy, Vitelliform, 5
Vitelliform-like macular lesions, Central scotoma, Moderately reduced visual acuity, Reduced visu... OMIM:616152
Retinitis Pigmentosa 27
Peripapillary chorioretinal atrophy, Macular edema, Constriction of peripheral visual field, Atte... OMIM:613750
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Sorsby Fundus Dystrophy
Blindness, Macular dystrophy, Chorioretinal atrophy OMIM:136900
Optic Atrophy 9
Optic atrophy, Reduced visual acuity, Red-green dyschromatopsia, Paracentral scotoma, Optic disc ... OMIM:616289
Retinopathy, Pericentral Pigmentary, Dominant
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Retinopathy, Retinal atr... OMIM:180210
Bietti Crystalline Dystrophy
Color vision defect, Pigmentary retinopathy, Visual impairment, Retinal pigment epithelial mottli... ORPHA:41751
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Severely reduced visual acuity, Rod-cone dystrophy ORPHA:3011
Retinitis Pigmentosa 11
Macular edema, Macular degeneration, Constriction of peripheral visual field, Blindness, Reduced ... OMIM:600138
Retinal Dysplasia, Primary
Retinal dysplasia, Falciform retinal fold OMIM:312550
Macular Dystrophy, Vitelliform, 4
Vitelliform-like macular lesions, Moderately reduced visual acuity, Macular dystrophy, Drusen OMIM:616151
Late-Onset Retinal Degeneration
Choroidal neovascularization, Scotoma, Visual loss, Retinopathy, Retinal degeneration, Chorioreti... OMIM:605670
Persistent Placoid Maculopathy
Choroidal neovascularization, Scintillating scotoma, Retinal pigment epithelial mottling, Abnorma... ORPHA:97341
Retinitis Pigmentosa 30
Optic atrophy, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone spicule pigmenta... OMIM:607921
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:612712
Choroideremia
Pigmentary retinopathy, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Numm... OMIM:303100
Retinitis Pigmentosa 47
Pigmentary retinopathy, Chorioretinal atrophy, Nyctalopia, Rod-cone dystrophy, Visual impairment OMIM:613758
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Blindness, Choriocapillaris atrophy, Reduced visual acuity, Subretinal depo... OMIM:601553
Macular Degeneration, Early-Onset
Choroidal neovascularization, Macular degeneration, Reduced visual acuity OMIM:616118
Newfoundland Rod-Cone Dystrophy
Color vision defect, Scotoma, Central scotoma, Ring scotoma, Reduced visual acuity, Bone spicule ... OMIM:607476
Retinitis Pigmentosa 80
Attenuation of retinal blood vessels, Blindness, Progressive visual loss, Bone spicule pigmentati... OMIM:617781
Retinitis Pigmentosa 73
Color vision defect, Constriction of peripheral visual field, Epiretinal membrane, Peripapillary ... OMIM:616544
Macular Dystrophy, Patterned, 1
Dark choroid, Choroidal neovascularization, Pattern dystrophy of the retina, Metamorphopsia, Yell... OMIM:169150
Senior-Loken Syndrome 6
Reduced visual acuity, Visual impairment, Rod-cone dystrophy OMIM:610189
Retinitis Pigmentosa 4
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Visual field defect, Ret... OMIM:613731
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Reduced visual acuity, Moderate myopia, Congenital stationary night blindness, Abnormal fundus mo... OMIM:163500
Cone-Rod Dystrophy 24
Color vision defect, Pigmentary retinopathy, Macular degeneration, Scotoma, Attenuation of retina... OMIM:620342
Retinitis Pigmentosa 62
Attenuation of retinal blood vessels, Bull's eye maculopathy, Visual field defect, Reduced visual... OMIM:614181
Cone-Rod Dystrophy 7
Color vision defect, Bull's eye maculopathy, Retinal flecks, Cone/cone-rod dystrophy, Macular atr... OMIM:603649
Retinitis Pigmentosa 33
Attenuation of retinal blood vessels, Optic disc pallor, Bone spicule pigmentation of the retina,... OMIM:610359
Stargardt Disease 4
Reduced visual acuity, Macular degeneration, Retinal flecks OMIM:603786
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels OMIM:165510
Retinitis Pigmentosa 54
Attenuation of retinal blood vessels, Fundus atrophy, Bone spicule pigmentation of the retina, Ro... OMIM:613428
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, B... OMIM:610951
Retinitis Pigmentosa 76
Retinal thinning, Hyperautofluorescent macular lesion, Constriction of peripheral visual field, P... OMIM:617123
Macular Dystrophy, Vitelliform, 1
Vitelliform-like macular lesions, Visual field defect, Reduced visual acuity, Macular dystrophy, ... OMIM:153840
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Progressive visual loss, Nyctalopia, ... ORPHA:180
Bothnia Retinal Dystrophy
Color vision defect, Pigmentary retinopathy, Macular degeneration, Retinal pigment epithelial mot... ORPHA:85128
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Retinal pigment epithelial mottling, Reduced visual acuity, Hypoautofluoresc... OMIM:304020
Retinitis Pigmentosa 61
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Nyctalopia, Rod-co... OMIM:614180
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1
Central retinal vessel vascular tortuosity, Central scotoma, Reduced visual acuity, Retinal nerve... OMIM:619382
Retinitis Pigmentosa 35
Nyctalopia, Reduced visual acuity, Blindness, Rod-cone dystrophy OMIM:610282
Retinitis Pigmentosa 68
Visual field defect, Retinal atrophy, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:615725
Retinitis Pigmentosa 63
Optic disc pallor, Blurred vision, Rod-cone dystrophy, Nyctalopia OMIM:614494
Macular Degeneration, Atrophic, X-Linked
Reduced visual acuity, Macular degeneration OMIM:300834
Cone-Rod Dystrophy 12
Color vision defect, Bull's eye maculopathy, Central scotoma, Cone/cone-rod dystrophy, Reduced vi... OMIM:612657
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Nyctalopia, Rod-cone dystrophy, Pho... OMIM:600852
Macular Dystrophy, Vitelliform, 3
Vitelliform-like macular lesions, Color vision defect, Choroidal neovascularization, Metamorphops... OMIM:608161
Retinitis Pigmentosa 81
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:617871
Retinitis Pigmentosa 7
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:608133
Retinitis Pigmentosa 70
Macular degeneration, Constriction of peripheral visual field, Attenuation of retinal blood vesse... OMIM:615922
Retinitis Pigmentosa 32
Pigmentary retinopathy, Attenuation of retinal blood vessels, Retinal degeneration, Photoreceptor... OMIM:609913
Cone Rod Dystrophy
Color vision defect, Abnormality of retinal pigmentation, Nyctalopia, Photophobia, Visual impairment ORPHA:1872
Retinopathy Of Prematurity
Abnormal macular morphology, Retinal arteriolar tortuosity, Tractional retinal detachment, Blindn... ORPHA:90050
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Optic disc pallor,... OMIM:601718
Cone-Rod Dystrophy 22
Hypoautofluorescent retinal lesion, Photophobia, Hyperautofluorescent macular lesion, Attenuation... OMIM:619531
Leber Congenital Amaurosis 4
Blindness, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Reduced visual acuity, ... OMIM:604393
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:619007
Retinitis Pigmentosa 78
Cystoid macular edema, Visual field defect, Reduced visual acuity, Nyctalopia, Photopsia, Optic d... OMIM:617433
Cone-Rod Dystrophy 15
Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel... OMIM:613660
Retinitis Pigmentosa 20
Visual impairment, Attenuation of retinal blood vessels, Nyctalopia, Rod-cone dystrophy, Severely... OMIM:613794
Bothnia Retinal Dystrophy
Nyctalopia, Macular degeneration, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 69
Pigmentary retinopathy, Constriction of peripheral visual field, Perifoveal hypoautofluorescence,... OMIM:615780
Retinitis Pigmentosa 50
Attenuation of retinal blood vessels, Retinal flecks, Reduced visual acuity, Retinal detachment, ... OMIM:613194
Retinitis Pigmentosa 38
Peripheral retinal atrophy, Constriction of peripheral visual field, Progressive visual loss, Rod... OMIM:613862
Retinitis Pigmentosa 1
Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v... OMIM:180100
Cone-Rod Dystrophy 5
Color vision defect, Macular degeneration, Retinal pigment epithelial mottling, Central scotoma, ... OMIM:600977
Cone-Rod Dystrophy 13
Color vision defect, Macular degeneration, Cone/cone-rod dystrophy, Reduced visual acuity, Photop... OMIM:608194
Retinitis Pigmentosa 71
Attenuation of retinal blood vessels, Optic disc drusen, Rod-cone dystrophy, Nyctalopia, Optic di... OMIM:616394
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Choroidal neovascularization, Reduced visual acuity, Nycta... OMIM:619977
Cone-Rod Dystrophy 21
Reduced visual acuity, Nyctalopia, Macular atrophy, Photophobia, Retinal dystrophy OMIM:616502
Retinitis Pigmentosa 18
Retinal arteriolar constriction, Scotoma, Nyctalopia, Rod-cone dystrophy, Progressive visual fiel... OMIM:601414
Retinitis Pigmentosa 85
Reduced visual acuity, Rod-cone dystrophy, Progressive night blindness OMIM:618345
Cone-Rod Dystrophy 16
Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sheen, Reduc... OMIM:614500
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Color vision defect, Metamorphopsia, Choroideremia, Visual field de... ORPHA:1243
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Blindness, Retinopathy, Rod-cone dystrophy, Corticospinal tr... OMIM:551500
Oguchi Disease 2
Mizuo phenomenon, Congenital stationary night blindness OMIM:613411
Oguchi Disease 1
Mizuo phenomenon, Congenital stationary night blindness OMIM:258100
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Central scotoma, Reduced visual acuity, Nyctalopia, Optic disc pallor, Photophobia, Retinal dystr... OMIM:616079
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Nyctalopia, Rod... OMIM:606068
Retinitis Pigmentosa 40
Nyctalopia, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-co... OMIM:613801
Retinitis Pigmentosa 57
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:613582
Retinitis Pigmentosa 48
Macular degeneration, Visual impairment, Rod-cone dystrophy OMIM:613827
Stargardt Disease
Abnormality of macular pigmentation, Macular degeneration, Retinal pigment epithelial mottling, R... ORPHA:827
Retinitis Pigmentosa 9
Macular edema, Constriction of peripheral visual field, Bone spicule pigmentation of the retina, ... OMIM:180104
Cone Dystrophy 3
Cone/cone-rod dystrophy, Reduced visual acuity, Progressive visual loss, Macular atrophy, Photoph... OMIM:602093
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617460
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy, Blindness, Severely reduced visual acuity OMIM:309555
Tritanopia
Reduced visual acuity, Abnormal retinal morphology, Color vision test abnormality, Tritanomaly, P... ORPHA:88629
Cone-Rod Dystrophy 2
Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher... OMIM:120970
Leber Congenital Amaurosis 2
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Reduced visual acuity, F... OMIM:204100
Retinitis Pigmentosa 92
Pigmentary retinopathy, Constriction of peripheral visual field, Paracentral scotoma, Nyctalopia,... OMIM:619614
Retinitis Pigmentosa 3
Color vision defect, Constriction of peripheral visual field, High myopia, Perifoveal hypoautoflu... OMIM:300029
Congenital Stationary Night Blindness
Color vision defect, Retinal thinning, Congenital stationary night blindness with abnormal fundus... ORPHA:215
Exudative Vitreoretinopathy 3
Retinal exudate, Exudative vitreoretinopathy, Reduced visual acuity, Retinal detachment, Retinal ... OMIM:605750
Usher Syndrome, Type Iid
Nyctalopia, Rod-cone dystrophy OMIM:611383
Achromatopsia 7
Central scotoma, Hypoplasia of the fovea, Reduced visual acuity, Achromatopsia, Macular atrophy, ... OMIM:616517
Exudative Vitreoretinopathy 5
Retinal exudate, Exudative vitreoretinopathy, Visual impairment, Tractional retinal detachment, R... OMIM:613310
Retinitis Pigmentosa 2
Pigmentary retinopathy, Constriction of peripheral visual field, Bull's eye maculopathy, High myo... OMIM:312600
Macular Degeneration, Age-Related, 13
Choroidal neovascularization, Macular degeneration, Progressive visual loss, Drusen, Macular scar OMIM:615439
Retinitis Pigmentosa 88
Macular degeneration, Attenuation of retinal blood vessels, Cystoid macular edema, Reduced visual... OMIM:618826
Prolonged Electroretinal Response Suppression 2
Difficulty adjusting to changes in luminance, Abnormal fundus morphology, Reduced visual acuity, ... OMIM:620344
Usher Syndrome, Type Iiia
Visual field defect, Nyctalopia, Reduced visual acuity, Rod-cone dystrophy OMIM:276902
Cone Dystrophy 4
Visual impairment, Dyschromatopsia, Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, ... OMIM:613093
Usher Syndrome, Type Iv
Constriction of peripheral visual field, Hyperautofluorescent macular lesion, Retinal degeneratio... OMIM:618144
Retinitis Pigmentosa 96
Retinal thinning, Constriction of peripheral visual field, Reduced visual acuity, Bone spicule pi... OMIM:620228
Fleck Retina, Familial Benign
Nyctalopia, Visual impairment, Retinal flecks OMIM:228980
Microphthalmia, Isolated 5
Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule pigmentat... OMIM:611040
Retinitis Pigmentosa
Nyctalopia, Constriction of peripheral visual field, Abnormality of fundus pigmentation, Rod-cone... OMIM:268000
Bestrophinopathy, Autosomal Recessive
Retinal pigment epithelial atrophy, Reduced visual acuity, Hypermetropia, Retinal flecks OMIM:611809
Retinitis Pigmentosa 84
Attenuation of retinal blood vessels, Visual acuity no light perception, Bone spicule pigmentatio... OMIM:618220
X-Linked Retinal Dysplasia
Retinal dysplasia, Abnormal retinal vascular morphology, Visual impairment, Abnormality of retina... ORPHA:1852
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Visual impairment, Chorioretinal dysplasia OMIM:616335
Retinitis Pigmentosa 95
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:620102
Optic Atrophy 5
Optic atrophy, Optic disc pallor, Abnormality of pattern visual evoked potentials OMIM:610708
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Optic disc pallor, Color vision defect, Reduced visual acuity OMIM:618511
Fundus Albipunctatus
Nyctalopia, Fundus albipunctatus, Retinal flecks OMIM:136880
Macular Dystrophy With Central Cone Involvement
Bull's eye maculopathy, High myopia, Central scotoma, Reduced visual acuity, Red-green dyschromat... OMIM:616170
Achromatopsia
Inner retinal layer loss on macular OCT, Color vision defect, Retinal pigment epithelial mottling... ORPHA:49382
Cavitary Optic Disc Anomalies
Visual field defect, Reduced visual acuity, Peripapillary atrophy, Nyctalopia OMIM:611543
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Visual field defect, Bone spicule pigmentation of the retin... OMIM:613809
Optic Atrophy 12
Optic atrophy, Dyschromatopsia, Reduced visual acuity, Abnormal Ishihara plate test, Optic disc p... OMIM:618977
Retinal Cone Dystrophy 3B
Scotoma, Cone/cone-rod dystrophy, Reduced visual acuity, Nyctalopia, Macular atrophy, Myopia, Pho... OMIM:610356
Retinal Cone Dystrophy 1
Color vision defect, Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy, Progr... OMIM:180020
Retinal Cone Dystrophy 4
Retinal pigment epithelial mottling, Constriction of peripheral visual field, Cone/cone-rod dystr... OMIM:610478
Retinal Capillary Malformation
Retinal exudate, Retinal capillary hemangioma, Subretinal exudate, Epiretinal membrane, Blindness... ORPHA:71213
Leber Congenital Amaurosis 9
Optic atrophy, Color vision defect, Retinal pigment epithelial mottling, Ultra-low vision, Attenu... OMIM:608553
Blue Cone Monochromacy
Abnormality of macular pigmentation, Visual impairment, Reduced visual acuity, Myopia, Blue cone ... OMIM:303700
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Macular degeneration, Cerebral atrophy, Blindness, Retinal degeneration, Increased... OMIM:204200
Retinitis Pigmentosa 6
Pigmentary retinopathy, Constriction of peripheral visual field, Chorioretinal degeneration, Nyct... OMIM:312612
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Reduced visual acuity, Amblyopia, Retinal pigment epithelial mott... OMIM:300814
Leber Congenital Amaurosis 14
Congenital blindness, Reduced visual acuity, Rod-cone dystrophy, Nyctalopia, Optic disc pallor, P... OMIM:613341
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Constriction of peripheral visual field, Retinal degeneration, Hype... OMIM:267760
Optic Atrophy 16
Color vision defect, Visual loss, Central scotoma, Reduced visual acuity, Mildly reduced visual a... OMIM:620629
Optic Atrophy 3, Autosomal Dominant
Scotoma, Optic atrophy, Optic disc pallor, Reduced visual acuity OMIM:165300
Retinitis Pigmentosa 12
Attenuation of retinal blood vessels, Reduced visual acuity, Bone spicule pigmentation of the ret... OMIM:600105
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:600059
Night Blindness, Congenital Stationary, Type 1D
Pigmentary retinopathy, Attenuation of retinal blood vessels, Congenital stationary night blindne... OMIM:613830
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Visual impairment, Retinal degeneration OMIM:618513
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration, Reduced visual ... OMIM:617879
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Visual field defect, Bone spicule pigmentation of the retina, Congenital stationary night blindness OMIM:610445
Morm Syndrome
Retinal atrophy, Visual impairment, Retinal dystrophy, Progressive night blindness ORPHA:75858
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, High myopia, Central scotoma, Cone/cone-rod dystrophy, R... OMIM:615973
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Abnormality of macular pigmentation, Visual impairment, Central scotoma, Con... OMIM:300476
Intellectual Developmental Disorder, Autosomal Dominant 33
Amblyopia, Chorioretinal degeneration OMIM:616311
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Visual impairment, Peripheral retinal atrophy, Reduced visual acuity, Nyctalopia, Tritanomaly, Ab... OMIM:615147
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Tractional retinal detachment, Blurred vision, Vit... ORPHA:209943
Optic Atrophy 15
Optic atrophy, Dyschromatopsia, Central scotoma, Reduced visual acuity, Optic disc pallor, Photop... OMIM:620583
Chorioretinal Atrophy, Progressive Bifocal
Chorioretinal atrophy, Chorioretinal dystrophy, Retinal detachment, Myopia, Visual impairment OMIM:600790
Retinitis Pigmentosa 31
Visual field defect, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Ro... OMIM:609923
Night Blindness, Congenital Stationary, Type 1F
High myopia, Retinal perforation, Reduced visual acuity, Nyctalopia, Congenital stationary night ... OMIM:615058
Leber Congenital Amaurosis 16
Visual field defect, Reduced visual acuity, Nyctalopia, Optic disc pallor, Visual impairment, Pho... OMIM:614186
Optic Atrophy 6
Optic atrophy, Retinal degeneration, Red-green dyschromatopsia, Visual impairment, Photophobia OMIM:258500
Retinal Dystrophy And Obesity
Attenuation of retinal blood vessels, Retinal dots, Peripapillary atrophy, Reduced visual acuity,... OMIM:616188
Leber Congenital Amaurosis 1
Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Reduced visual acuity, F... OMIM:204000
Grouped Pigmentation Of The Retina
Metamorphopsia, Abnormality of retinal pigmentation OMIM:233800
Exudative Vitreoretinopathy 4
Retinal exudate, Exudative vitreoretinopathy, Posterior vitreous detachment, Tractional retinal d... OMIM:601813
Cone-Rod Dystrophy 18
Foveal hyperpigmentation, High myopia, Central scotoma, Cone/cone-rod dystrophy, Reduced visual a... OMIM:615374
Retinal Cone Dystrophy 3A
Dyschromatopsia, High myopia, Cone dystrophy, Reduced visual acuity, Nyctalopia, Photophobia OMIM:610024
Retinitis Pigmentosa 36
Macular degeneration, Attenuation of retinal blood vessels, Bone spicule pigmentation of the reti... OMIM:610599
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Retinitis Pigmentosa 77
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Cystoid macular ed... OMIM:617304
Usher Syndrome, Type 1M
Optic disc pallor, Nyctalopia, Drusen OMIM:618632
Intellectual Developmental Disorder And Retinitis Pigmentosa
Macular degeneration, Attenuation of retinal blood vessels, Peripapillary atrophy, Bone spicule p... OMIM:618195
Retinitis Pigmentosa 49
Attenuation of retinal blood vessels, Peripheral visual field loss, Reduced visual acuity, Bone s... OMIM:613756
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Constriction of peripheral visual field, B... OMIM:617406
Ceroid Lipofuscinosis, Neuronal, 6A
Progressive visual loss, Increased neuronal autofluorescent lipopigment, Retinal degeneration OMIM:601780
Retinitis Pigmentosa 93
Constriction of peripheral visual field, Reduced visual acuity, Retinal dots, Rod-cone dystrophy OMIM:619845
Retinitis Pigmentosa 83
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Asteroid hyalosis,... OMIM:618173
Retinitis Pigmentosa 58
Macular degeneration, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone sp... OMIM:613617
Cleft Lip-Retinopathy Syndrome
Retinopathy, Visual impairment, Abnormality of retinal pigmentation ORPHA:1995
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Congenital stationary night blindness OMIM:610444
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Abnormal auditory evoked potentia... OMIM:616648
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Blind-spot enlargment, Reduced visual acuity, Optic disc pallor, Severely reduced ... OMIM:614296
Idiopathic Uveal Effusion Syndrome
Subretinal fluid, Exudative retinal detachment, Metamorphopsia, Blurred vision, Visual field defe... ORPHA:209956
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Retinitis Pigmentosa 51
Macular degeneration, High myopia, Attenuation of retinal blood vessels, Reduced visual acuity, B... OMIM:613464
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Central scotoma, Reduced visual acuity, Bone spicule pig... OMIM:615233
Retinitis Pigmentosa 10
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Bull's eye maculop... OMIM:180105
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Cone/cone-rod dystrophy, Pericentral scotoma, Par... OMIM:609021
Retinitis Pigmentosa 41
Pigmentary retinopathy, Macular degeneration, Attenuation of retinal blood vessels, Peripheral vi... OMIM:612095
Gyrate Atrophy Of Choroid And Retina
Macular thickening, Foveoschisis, Blindness, Chorioretinal atrophy, Nyctalopia, Myopia, Visual im... OMIM:258870
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Abnormal optic nerve morphology, Attenuation of retinal blood vessels, Abnormal fundus morphology... ORPHA:436274
Familial Exudative Vitreoretinopathy
Macular edema, Vitreoretinopathy, Subretinal fluid, Severely reduced visual acuity, Epiretinal me... ORPHA:891
Cone-Rod Dystrophy 8
Macular degeneration, Retinal arteriolar constriction, Abnormal optic nerve morphology, Blindness... OMIM:605549
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Macular degeneration, Cerebral atrophy, Blindness, Retinal degeneration, Progressi... OMIM:256730
Cone-Rod Dystrophy 19
Reduced visual acuity, High myopia, Perifoveal ring of hyperautofluorescence, Cone/cone-rod dystr... OMIM:615860
Hyperinsulinemic Hypoglycemia, Familial, 5
Hypoglycemic seizures, Elevated circulating insulin:C-peptide ratio, Hyperinsulinemic hypoglycemi... OMIM:609968
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Adult-Onset Foveomacular Vitelliform Dystrophy
Vitelliform-like macular lesions, Color vision defect, Retinal nonattachment, Abnormality of visi... ORPHA:99000
Exudative Vitreoretinopathy 1
Retinal exudate, Exudative vitreoretinopathy, Ectopic fovea, Posterior vitreous detachment, Blind... OMIM:133780
Progressive Cone Dystrophy
Photophobia, Color vision defect, Visual impairment, Abnormality of retinal pigmentation ORPHA:1871
Retinoschisis 1, X-Linked, Juvenile
Mizuo phenomenon, Retinal degeneration, Vitreous hemorrhage, Retinal atrophy, Retinal detachment,... OMIM:312700
Canavan Disease
EEG abnormality, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked... ORPHA:141
Macular Dystrophy, Retinal, 3
Color vision defect, Hyperautofluorescent macular lesion, Central scotoma, Reduced visual acuity,... OMIM:608850
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Peripheral visual ... OMIM:613983
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Choroidal neovascularization, Retinal thinning, Blind-spot enl... ORPHA:179
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy... OMIM:616108
Jalili Syndrome
Visual impairment, Retinal pigment epithelial mottling, Scotoma, Attenuation of retinal blood ves... OMIM:217080
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Vitreoretinopathy, Peripheral retinal neovascularization, B... OMIM:193235
Stargardt Disease 1
Retinitis pigmentosa inversa, Macular degeneration, Bull's eye maculopathy OMIM:248200
Congenital Glaucoma
Visual loss, Retinal detachment ORPHA:98976
Retinitis Pigmentosa 45
Macular degeneration, Peripheral visual field loss, Bone spicule pigmentation of the retina, Nyct... OMIM:613767
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Nanophthalmos 4
Optic disc drusen, Reduced visual acuity, Hypermetropia OMIM:615972
Narp Syndrome
Cerebral cortical atrophy, Retinal pigment epithelial mottling, Retinal arteriolar tortuosity, Co... ORPHA:644
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Nyctalopia, Reduced visual acuity, Retinal dystrophy OMIM:610156
Retinitis Pigmentosa 25
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Chorioretinal atro... OMIM:602772
Retinitis Pigmentosa 72
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Peripapillary atro... OMIM:616469
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal atrophy, Choroideremia, Progressive visual... OMIM:303110
Night Blindness, Congenital Stationary, Type 1G
Constriction of peripheral visual field, Rod-cone dystrophy, Optic disc pallor, Visual impairment... OMIM:616389
Cone-Rod Dystrophy 6
Dyschromatopsia, Attenuation of retinal blood vessels, Peripheral visual field loss, Chorioretina... OMIM:601777
Åland Islands Eye Disease
Color vision defect, Hypopigmentation of the fundus, Hypoplasia of the fovea, Reduced visual acui... ORPHA:178333
Retinitis Pigmentosa 14
Retinal arteriolar constriction, Constriction of peripheral visual field, Reduced visual acuity, ... OMIM:600132
Familial Drusen
Peripapillary chorioretinal atrophy, Choroidal neovascularization, Subretinal fluid, Reticular pi... ORPHA:75376
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Color vision defect, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Optic disc pa... OMIM:616732
Cone-Rod Dystrophy 17
Central scotoma, Cone/cone-rod dystrophy, Optic disc pallor, Photophobia, Visual impairment OMIM:615163
Cone-Rod Dystrophy 10
Macular degeneration, Peripheral visual field loss, Attenuation of retinal blood vessels, Bone sp... OMIM:610283
Retinitis Pigmentosa 37
Cystoid macular degeneration, Pigmentary retinopathy, Constriction of peripheral visual field, Re... OMIM:611131
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Congenital blindness, Retinal detachment ORPHA:436182
Retinitis Pigmentosa 43
Pigmentary retinopathy, Attenuation of retinal blood vessels, Peripheral visual field loss, Bone ... OMIM:613810
Gyrate Atrophy Of Choroid And Retina
Abnormal macular morphology, Constriction of peripheral visual field, Blindness, Chorioretinal at... ORPHA:414
Blue Cone Monochromatism
Photophobia, Blue cone monochromacy, Visual impairment, Abnormality of retinal pigmentation ORPHA:16
Optic Atrophy 14
Optic disc pallor, Constriction of peripheral visual field, Reduced visual acuity OMIM:620550
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
High hypermetropia, Retinal degeneration OMIM:251700
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral atrophy OMIM:618770
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Visual impairment, Myopia, Abnormality of retinal pigmentation ORPHA:1574
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Optic atrophy, Exudative vitreoretinopathy, Vitreoretin... OMIM:143200
Cone-Rod Dystrophy 11
Slow decrease in visual acuity, Macular degeneration, Bull's eye maculopathy, Cone/cone-rod dystr... OMIM:610381
Retinitis Punctata Albescens
Pigmentary retinopathy, Retinal pigment epithelial mottling, Abnormality of fundus pigmentation, ... ORPHA:52427
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Optic disc pallor, Reduced visual acuity, Photophobia, Retinal thinning OMIM:618970
Hyperinsulinemic Hypoglycemia, Familial, 7
Hypoglycemia, Hyperinsulinemia, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia,... OMIM:610021
Retinitis Pigmentosa 56
Pigmentary retinopathy, Attenuation of retinal blood vessels, Visual field defect, Optic disc pal... OMIM:613581
Chromosome 16Q12 Duplication Syndrome
Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial mottling, H... OMIM:619649
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal best... ORPHA:67042
Bornholm Eye Disease
Protanopia, High myopia, Abnormality of retinal pigmentation, Amblyopia, Deuteranopia, Optic nerv... OMIM:300843
Vitreoretinochoroidopathy
Color vision defect, Pigmentary retinopathy, Retinal arteriolar constriction, Dyschromatopsia, Ab... OMIM:193220
Acute Zonal Occult Outer Retinopathy
Abnormal choroid morphology, Reduced visual acuity, Abnormal retinal vascular morphology, Rod-con... ORPHA:284454
Eales Disease
Macular edema, Retinal thinning, Peripheral retinal neovascularization, Vitritis, Epiretinal memb... ORPHA:40923
Myopia, High, With Cataract And Vitreoretinal Degeneration
High myopia, Vitreous floaters, Retinal detachment, Mildly reduced visual acuity, Peripheral vitr... OMIM:614292
Retinitis Pigmentosa 97
Macular degeneration, Reduced visual acuity, Amblyopia, Nyctalopia, Rod-cone dystrophy OMIM:620422
Retinitis Pigmentosa 26
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Rod-cone dystrophy... OMIM:608380
Stickler Syndrome, Type I, Nonsyndromic Ocular
Myopia, Rhegmatogenous retinal detachment, Optically empty vitreous OMIM:609508
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy, Myopia, Visual impairment ORPHA:75373
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Retinal vascular tortuosity, Blindness, Abnormal optic disc morphology, Reduce... ORPHA:440727
Oculocutaneous Albinism Type 6
Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Reduced visual acuity, Pho... ORPHA:370097
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormal retinal nerve fiber layer morphology, Absent brainstem auditory responses... ORPHA:1215
Bardet-Biedl Syndrome 5
Reduced visual acuity, Macular dystrophy, Rod-cone dystrophy OMIM:615983
Retinitis Pigmentosa 75
Attenuation of retinal blood vessels, Peripheral visual field loss, Bone spicule pigmentation of ... OMIM:617023
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment OMIM:113750
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Optic Nerve Hypoplasia, Bilateral
Optic nerve aplasia, Morning glory anomaly, Remnants of the hyaloid vascular system, Optic nerve ... OMIM:165550
Retinitis Pigmentosa 44
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Visual impairment,... OMIM:613769
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Dyschromatopsia, Constriction of peripheral visual field, Central scotoma, Reduced... OMIM:612989
Bardet-Biedl Syndrome 3
Nyctalopia, Pigmentary retinopathy, Visual impairment, Rod-cone dystrophy OMIM:600151
Congenital Glucokinase-Related Hyperinsulinism
Fasting hyperinsulinemia, Recurrent hypoglycemia, Hypoketotic hypoglycemia, Abnormality of the au... ORPHA:79299
Autosomal Recessive Spastic Paraplegia Type 44
Abnormal auditory evoked potentials, Abnormal motor evoked potentials, Abnormality of visual evok... ORPHA:320401
Exudative Vitreoretinopathy 7
Exudative vitreoretinopathy, Retinal degeneration, Retinal detachment, Retinal hole, Retinal fold OMIM:617572
Hyperinsulinemic Hypoglycemia, Familial, 3
Hypoglycemic seizures, Diabetes mellitus, Hyperinsulinemic hypoglycemia OMIM:602485
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Reduced visual acuity, Retinal pigment epithelial mot... ORPHA:506353
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral visual impairment, Retinal vascular tortuosity OMIM:618768
Aland Island Eye Disease
Hypopigmentation of the fundus, Protanopia, Hypoplasia of the fovea, Myopia, Severely reduced vis... OMIM:300600
Leber Congenital Amaurosis 8
Pigmentary retinopathy, Nummular pigmentation of the fundus, Choriocapillaris atrophy, Chorioreti... OMIM:613835
Night Blindness, Congenital Stationary, Type 1E
Reduced visual acuity, High myopia, Visual impairment, Congenital stationary night blindness OMIM:614565
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Pigmentary retinopathy, Moderate myopia, Constriction of peripheral visual field, ... OMIM:300578
Night Blindness, Congenital Stationary, Type 1B
Bone spicule pigmentation of the retina, Nyctalopia, Myopia, Hemeralopia, Congenital stationary n... OMIM:257270
Macular Degeneration, Age-Related, 1
Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, Macular hemorrhage, ... OMIM:603075
Ethanolaminosis
Cardiomegaly OMIM:227150
Blindness-Scoliosis-Arachnodactyly Syndrome
Visual loss, Blindness, Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Optic Atrophy 1
Optic atrophy, Centrocecal scotoma, Central scotoma, Reduced visual acuity, Red-green dyschromato... OMIM:165500
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Chorioretinal atrophy, Progressive night bl... OMIM:210370
Oguchi Disease
Mizuo phenomenon, Macular degeneration, Diplopia, Rod-cone dystrophy, Myopia, Visual impairment, ... ORPHA:75382
Retinitis Pigmentosa 23
Color vision defect, Severely reduced visual acuity, Constriction of peripheral visual field, Att... OMIM:300424
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Color vision defect, Decreased nerve conduction velocity, Central scotoma, Reduced... ORPHA:98890
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration, Blindness ORPHA:1573
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Macular edema, Vitreoretinopathy, Retinoschisis, Nyctalopia, Hemeralopia OMIM:268100
Hyperinsulinemic Hypoglycemia, Familial, 8
Elevated circulating thyroid-stimulating hormone concentration, Hypoglycemia, Hyperinsulinemia, A... OMIM:620211
Retinitis Pigmentosa 59
Constriction of peripheral visual field, Cystoid macular edema, Reduced visual acuity, Nyctalopia... OMIM:613861
Sandhoff Disease
Blindness, Cherry red spot of the macula ORPHA:796
Peroxisomal Acyl-Coa Oxidase Deficiency
EEG abnormality, Optic atrophy, Abnormal electroretinogram, Abnormality of visual evoked potentials ORPHA:2971
Retinal Dystrophy With Or Without Macular Staphyloma
Retinal pigment epithelial mottling, Attenuation of retinal blood vessels, Central scotoma, Reduc... OMIM:617547
Nystagmus 2, Congenital, Autosomal Dominant
Reduced visual acuity, Visual impairment, Mildly reduced visual acuity OMIM:164100
Leber Congenital Amaurosis 15
Color vision defect, Pigmentary retinopathy, Photophobia, Constriction of peripheral visual field... OMIM:613843
Cone-Rod Dystrophy 3
Color vision defect, Pigmentary retinopathy, Attenuation of retinal blood vessels, Bull's eye mac... OMIM:604116
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Peripheral retinal degeneration, Dyschromatopsia, Central retinal exudate, Progressive visual los... OMIM:264420
Achromatopsia 2
Retinal thinning, Dull foveal reflex, Peripapillary atrophy, Hypoplasia of the fovea, Reduced vis... OMIM:216900
Severe Early-Childhood-Onset Retinal Dystrophy
Reduced visual acuity, Retinal detachment, Retinal pigment epithelial atrophy, Optic disc pallor,... ORPHA:364055
Idiopathic Panuveitis
Choroidal neovascularization, Abnormality of vision, Epiretinal membrane, Blindness, Blurred visi... ORPHA:280921
Neovascular Glaucoma
Abnormal optic nerve morphology, Retinal vein occlusion, Visual loss, Retinopathy, Abnormal poste... ORPHA:94058
Night Blindness, Congenital Stationary, Type 2A
Reduced visual acuity, Visual impairment, Congenital stationary night blindness OMIM:300071
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Microphthalmia/Coloboma 12
Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Remnants of the hyaloid vascula... OMIM:120200
Optic Pathway Glioma
Optic atrophy, Blindness, Visual loss, Visual field defect, Reduced visual acuity, Papilledema ORPHA:2086
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypoplasia of the fovea, Reduced visual acuity, Photophobia OMIM:619165
Retinitis Pigmentosa 89
Retinal thinning, Constriction of peripheral visual field, Nyctalopia, Rod-cone dystrophy, Hypera... OMIM:618955
Night Blindness, Congenital Stationary, Type 1C
Myopia, Reduced visual acuity, Congenital stationary night blindness OMIM:613216
Hyperinsulinism Due To Insr Deficiency
Insulin resistance, Hypoglycemia, Fasting hyperinsulinemia, Recurrent hypoglycemia, Hyperinsuline... ORPHA:263458
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Myopia, Blindness, Retinal detachment, Optic nerve hypoplasia OMIM:615181
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276580
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Blindness, Retinopathy ORPHA:216873
Retinitis Pigmentosa
Optic atrophy, Attenuation of retinal blood vessels, Peripheral visual field loss, Abnormality of... ORPHA:791
Microphthalmia, Isolated 6
Retinal fold, High hypermetropia, Amblyopia OMIM:613517
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
EEG with abnormally slow frequencies, EEG with generalized epileptiform discharges, Abnormality o... ORPHA:1947
Oculocutaneous Albinism Type 1
Optic nerve misrouting, Hypoplasia of the fovea, Abnormal morphology of the choroidal vasculature... ORPHA:352731
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Abnormality of visual evoked potentials OMIM:617523
Central Retinal Vein Occlusion
Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosity, Epireti... ORPHA:411527
Hyperinsulinism Due To Hnf1A Deficiency
Hypoglycemic seizures, Maturity-onset diabetes of the young, Hyperinsulinemia, Excessive insulin ... ORPHA:324575
Hyperinsulinism-Hyperammonemia Syndrome
Attention deficit hyperactivity disorder, Hyperinsulinemic hypoglycemia, Reactive hypoglycemia, F... ORPHA:35878
Hyperinsulinemic Hypoglycemia, Familial, 4
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia OMIM:609975
Obesity Due To Sim1 Deficiency
Postural hypotension with compensatory tachycardia, Hyperinsulinemia, Glucose intolerance, Polyph... ORPHA:369873
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Moderately reduced visual acuity, Severely reduced visual acuity, Chorioretinal coloboma, Retinal... ORPHA:2921
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels, Blindness, Bone spic... OMIM:609033
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Diffuse pancreatic islet hyperplasia, Type I diabetes mellitus, Hypoglycemic seizures, Hypertroph... ORPHA:276575
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal amplitude of pattern reversal visual evoked potentials, Abnormal auditory... OMIM:125250
Exudative Vitreoretinopathy 6
Exudative vitreoretinopathy, Retinal exudate, Posterior vitreous detachment, Tractional retinal d... OMIM:616468
Hyperinsulinemic Hypoglycemia, Familial, 1
Hypoglycemic seizures, Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia OMIM:256450
Insulinomatosis And Diabetes Mellitus
Insulinoma, Multiple pancreatic beta-cell adenomas, Type II diabetes mellitus, Hyperinsulinemic h... OMIM:147630
Foveal Hypoplasia 2
Hypoplasia of the fovea, Foveal hyperpigmentation, Reduced visual acuity, Optic nerve misrouting OMIM:609218
Morning Glory Disc Anomaly
Amblyopia, Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Visual loss, Chorioretinal atrophy, Abnormality of retinal pigmentation, Retinopathy, Nyctalopia,... ORPHA:5
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Myopia, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Nyctalopia ORPHA:1390
Behr Syndrome
Optic atrophy, Cerebellar atrophy, Hypoplastic optic chiasm, Cerebellar vermis atrophy, Blindness... OMIM:210000
Stickler Syndrome Type 2
Abnormal vitreous humor morphology, Myopia, Retinal detachment, Retinopathy ORPHA:90654
Krabbe Disease
Optic atrophy, EEG abnormality, Abnormal flash visual evoked potentials, Decreased nerve conducti... OMIM:245200
Bardet-Biedl Syndrome 16
Reduced visual acuity, Rod-cone dystrophy, Retinal degeneration OMIM:615993
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Reduced visual acuity, Rod-cone dystrophy OMIM:619082
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormal amplitude of flash visual evoked potentials, EEG with spike-wave complexes, EEG with pho... ORPHA:168491
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Congenital blindness, Visual acuity light perception with projection... ORPHA:2788
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnormality, Optic disc p... ORPHA:485421
Leber Congenital Amaurosis 6
Photophobia, Attenuation of retinal blood vessels, Severely reduced visual acuity, High hypermetr... OMIM:613826
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic disc pallor, Decreased motor nerve conduction velocity, Optic atrophy, Abnormality of visua... OMIM:601152
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia, Hyperinsulinemia ORPHA:329249
Ramos-Arroyo Syndrome
Absent retinal pigment epithelium, Reduced visual acuity, Visual impairment OMIM:122430
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Pancreatic islet-cell hyperplasia, Hypoglycemia OMIM:601820
Severe Canavan Disease
Optic atrophy, Blindness ORPHA:314911
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Abnormality of visual evoked potentials ORPHA:96
Schizophrenia 15
Hyperactivity OMIM:613950
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone... ORPHA:436245
Ophthalmoplegia, External, And Myopia
Myopia, Chorioretinal degeneration, Retinal degeneration OMIM:311000
Sarcosinemia
Optic atrophy, Congenital blindness ORPHA:3129
Myopia 28, Autosomal Recessive
High myopia, Retinal detachment OMIM:619781
Retinitis Pigmentosa 46
Pigmentary retinopathy, Constriction of peripheral visual field, Attenuation of retinal blood ves... OMIM:612572
Sjogren-Larsson Syndrome
Color vision defect, Macular degeneration, Retinal thinning, Macular dots, Reduced visual acuity,... OMIM:270200
Myopia 3, Autosomal Dominant
High myopia, Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
High myopia, Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
High myopia, Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
High myopia, Retinal detachment OMIM:608474
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Abnormal electroretinogram, Nonarteritic anterior ischem... OMIM:125310
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Abnormal electroretinogram, Abnormality of visual evoked pot... ORPHA:1933
Juvenile Neuronal Ceroid Lipofuscinosis
Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Blindness, Visual loss, Retinal deg... ORPHA:79264
Peho Syndrome
Optic atrophy, Hypsarrhythmia, Undetectable visual evoked potentials OMIM:260565
Retinitis Pigmentosa And Erythrocytic Microcytosis
Macular edema, Peripheral retinal atrophy, Epiretinal membrane, Attenuation of retinal blood vess... OMIM:616959
Insulin Autoimmune Syndrome
Insulin resistance, Insulin-resistant diabetes mellitus, Reactive hypoglycemia, Nonketotic hypogl... ORPHA:411593
Wolfram Syndrome, Mitochondrial Form
Optic atrophy, Blindness, Abnormal autonomic nervous system physiology OMIM:598500
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal fold, Cerebral atrophy, Abnormality of retinal pigmentation, Retinal detachment, Choriore... OMIM:251270
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Hyperinsulinemia, Hypoketotic hypoglycemia, Reactive hypoglycemia, Pancreatic islet-cell hyperpla... ORPHA:276608
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Nummular pigmentation of the fundus, Peripheral visual field loss, Chorio... OMIM:618697
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Leukodystrophy, Hypomyelinating, 14
Blindness, Cerebellar atrophy, Cerebral atrophy OMIM:617899
Peroxisome Biogenesis Disorder 9B
Nyctalopia, Constriction of peripheral visual field, Reduced visual acuity, Rod-cone dystrophy OMIM:614879
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Pigmentary retinopathy, Blindness, Rod-cone dystrophy ORPHA:216866
Retinal Dystrophy With Or Without Extraocular Anomalies
Reduced visual acuity, Retinal dystrophy OMIM:617175
Hyperinsulinism Due To Ucp2 Deficiency
Diffuse pancreatic islet hyperplasia, Hypoglycemic seizures, Recurrent hypoglycemia, Hypertrophic... ORPHA:276556
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity OMIM:256600
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Central scotoma OMIM:615035
Oculocutaneous Albinism Type 5
Ocular albinism, Abnormal fundus morphology, Hypoplasia of the fovea, Reduced visual acuity, Phot... ORPHA:370091
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Mepan Syndrome
Optic atrophy, Abnormality of visual evoked potentials ORPHA:508093
Mohr-Tranebjaerg Syndrome
Optic atrophy, Absent brainstem auditory responses, Abnormality of visual evoked potentials, Abno... ORPHA:52368
Poretti-Boltshauser Syndrome
Retinal thinning, Retinal atrophy, Amblyopia, Myopia, Retinal dystrophy OMIM:615960
8p23.1 deletion syndrome
Abnormal heart morphology, Atrial septal defect, Hyperactivity, Atrioventricular canal defect DECIPHER:39
Stickler Syndrome, Type V
High myopia, Retinal detachment, Vitreoretinopathy OMIM:614284
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Hypsarrhythmia, Abnormality of visual evoked potentials ORPHA:314389
Leukoencephalopathy With Vanishing White Matter 1
Optic atrophy, Blindness OMIM:603896
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Retinitis Pigmentosa 82 With Or Without Situs Inversus
Optic disc pallor, Reduced visual acuity, Rod-cone dystrophy, Macular atrophy OMIM:615434
Developmental And Epileptic Encephalopathy 3
EEG with burst suppression, Abnormality of visual evoked potentials OMIM:609304
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormal electroretinogram, Abnormality of visual evoked potentials OMIM:616875
Infantile Refsum Disease
Optic atrophy, Visual impairment, Constriction of peripheral visual field, Rod-cone dystrophy, Ny... ORPHA:772
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Optic atrophy, Abnormal flash visual evoked potentials, Abnor... ORPHA:98755
Canavan Disease
Optic atrophy, Blindness, Visual impairment, Brain atrophy OMIM:271900
Leber Congenital Amaurosis
Abnormal optic disc morphology, Severely reduced visual acuity, Abnormality of retinal pigmentation ORPHA:65
Friedreich Ataxia
Optic atrophy, Decreased sensory nerve conduction velocity, Decreased amplitude of sensory action... OMIM:229300
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Undetectable visual evoked potentials OMIM:601338
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Undetectable visual evoked potentials, Aplasia/Hypoplasia of the optic nerve, Retinal dystrophy, ... ORPHA:423479
Microphthalmia, Syndromic 3
Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Hypogonadotropic hypogonadism, Ante... OMIM:206900
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Cerebral atrophy, Neurodegeneration, Blindness, V... ORPHA:391428
Albinism, Ocular, Type I
Ocular albinism, Hypoplasia of the fovea, Reduced visual acuity, Photophobia, Depigmented fundus OMIM:300500
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Usher Syndrome
Cerebral cortical atrophy, High hypermetropia, Blindness, Abnormality of retinal pigmentation, Vi... ORPHA:886
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials ORPHA:702
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Abnormal auditory evoked potentials, Abnormality of visual e... OMIM:601455
Retinal Dystrophy And Microvillus Inclusion Disease
Optic disc pallor, Severely reduced visual acuity OMIM:619446
Cone-Rod Dystrophy And Hearing Loss 1
Macular degeneration, Dyschromatopsia, Retinal atrophy, Photophobia, Visual impairment, Hemeralopia OMIM:617236
Renal Failure, Progressive, With Hypertension
Elevated circulating creatinine concentration OMIM:161900
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Abnormality of visual evoked potentials, Opto-chiasmatic atrophy OMIM:615491
Body Mass Index Quantitative Trait Locus 20
Polyphagia, Hyperinsulinemia OMIM:618406
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Hyperinsulinemia, Type II diabetes mellitus ORPHA:71529
Retinitis Pigmentosa 74
Pigmentary retinopathy, Constriction of peripheral visual field, Reduced visual acuity, Rod-cone ... OMIM:616562
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Abnormal optic nerve morphology, Abnormality of visual evoked potentials... ORPHA:79431
Spinocerebellar Ataxia Type 7
Macular degeneration, Cerebellar atrophy, Cerebral atrophy, Blindness, Visual loss, Abnormal fund... ORPHA:94147
Senior-Loken Syndrome 4
Severely reduced visual acuity, Amblyopia, Rod-cone dystrophy OMIM:606996
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the fundus, Hypoplasia of the fovea, Reduced visual acuity, Myopia, Visual im... OMIM:203200
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Undetectable visual evoked potentials, Chorioretinal coloboma ORPHA:163961
Jalili Syndrome
Optic atrophy, Color vision defect, Abnormality of retinal pigmentation, Photophobia, Visual impa... ORPHA:1873
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, EEG abnormality, Abnormality of visual evoked potentials ORPHA:480898
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Retinal atrophy, Reduced visual acuity OMIM:616722
Obesity Due To Prohormone Convertase I Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Decreased response to growth hormone stimulation test, Hyperinsulinemia, Central adrenal insuffic... ORPHA:71526
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials ORPHA:1389
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Obesity And Hypopigmentation
Polyphagia, Hyperinsulinemia OMIM:620195
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Abnormal autonomic nervous system physiology, Orthostatic hypotension, Abnormality... OMIM:231550
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve cond... ORPHA:35069
Mpdu1-Cdg
Optic atrophy, Hypsarrhythmia, Undetectable visual evoked potentials ORPHA:79323
Familial Partial Lipodystrophy, Köbberling Type
Hepatomegaly, Hyperinsulinemia, Diabetes mellitus, Insulin resistance ORPHA:79084
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Bdv Syndrome
Central hypothyroidism, Decreased serum testosterone concentration, Hyperinsulinemia, Type II dia... OMIM:619326
Madras Motor Neuron Disease
Optic atrophy, Reduced visual acuity, Facial palsy, Visual impairment ORPHA:137867
Norrie Disease
Optic atrophy, Blindness, Retinal detachment, Retinal fold, Retinal dysplasia OMIM:310600
Insulinoma
Abnormality of the pancreatic islet cells, Neuroendocrine neoplasm, Pituitary prolactin cell aden... ORPHA:97279
Hyperinsulinemic Hypoglycemia, Familial, 6
Hypoglycemic seizures, Abnormality of the pancreatic islet cells, Hyperinsulinemic hypoglycemia OMIM:606762
Micro Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti... ORPHA:2510
Homozygous 11P15-P14 Deletion Syndrome
Hyperinsulinemia, Hypoglycemia OMIM:606528
Joubert Syndrome 6
Blindness, Chorioretinal coloboma, Retinal degeneration OMIM:610688
Night Blindness, Congenital Stationary, Type 1H
Photophobia, Hypermetropia, Nyctalopia, Mild myopia OMIM:617024
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Oculocutaneous Albinism Type 4
Ocular albinism, Abnormality of retinal pigmentation, Optic nerve misrouting, Hypoplasia of the f... ORPHA:79435
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials ORPHA:357225
Macrophthalmia, Colobomatous, With Microcornea
Optic disc coloboma, Chorioretinal coloboma, Reduced visual acuity, Macular atrophy, Myopia OMIM:602499
Methanol Poisoning
Blindness, Visual impairment, Blurred vision, Abnormal optic nerve morphology ORPHA:31825
Autosomal Recessive Stickler Syndrome
Myopia, Amblyopia, Retinal detachment, Vitreoretinopathy ORPHA:250984
Cardiomyopathy, Dilated, 1I
Cardiomegaly, Dilated cardiomyopathy OMIM:604765
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Usher Syndrome Type 1
Cerebral cortical atrophy, Scotoma, Visual loss, Nyctalopia, Hemianopia, High hypermetropia, Subc... ORPHA:231169
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Pigmentary retinopathy, Blindness OMIM:560000
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Refsum Disease, Classic
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:266500
Isolated Succinate-Coq Reductase Deficiency
Pigmentary retinopathy, Reduced visual acuity, Blindness ORPHA:3208
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Blindness, Retinal dystrophy ORPHA:713
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome
Optic atrophy, Visual field defect, Reduced visual acuity, Cerebral visual impairment, Optic disc... OMIM:615722
Obesity Due To Congenital Leptin Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:66628
Reese Retinal Dysplasia
Retinal dysplasia, Remnants of the hyaloid vascular system OMIM:266400
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Pigmentary retinopathy, Abnormal sensory nerve conduction velocity, Visual loss, Axonal degenerat... ORPHA:88628
Spastic Paraplegia 75, Autosomal Recessive
Optic atrophy, Cerebellar atrophy, Reduced visual acuity, Corpus callosum atrophy, Hypermetropia OMIM:616680
Birdshot Chorioretinopathy
Vitreous floaters, Retinal pigment epithelial atrophy, Visual impairment, Abnormal chorioretinal ... OMIM:605808
Fuchs Heterochromic Iridocyclitis
Chorioretinal scar, Abnormal best corrected visual acuity test, Epiretinal membrane, Retinal perf... ORPHA:263479
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Retinal atrophy, Amblyopia, Hypermetropia, Myopia, Retinal dystrophy ORPHA:370022
Refsum Disease
Abnormality of vision, Abnormality of retinal pigmentation, Retinopathy, Progressive visual loss,... ORPHA:773
Coloboma, Ocular, Autosomal Recessive
Reduced visual acuity, Optic disc coloboma, Retinal coloboma OMIM:216820
Sturge-Weber Syndrome
Optic atrophy, Cerebral cortical atrophy, Abnormality of vision, Blindness, Abnormal choroid morp... ORPHA:3205
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity ORPHA:309256
Leber Congenital Amaurosis 3
Constriction of peripheral visual field, Visual loss, Nyctalopia OMIM:604232
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Obesity Due To Leptin Receptor Gene Deficiency
Decreased serum estradiol, Insulin-resistant diabetes mellitus, Absence of secondary sex characte... ORPHA:179494
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Abnormal electroretinogram, Rod-cone dystrophy, ... ORPHA:166035
Lowry-Wood Syndrome
Pigmentary retinopathy, Peripheral visual field loss, Nyctalopia OMIM:226960