Gene Summary

Name:
cone-rod homeobox
Synonyms:
Crx1

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 NK cell number Crxem1(IMPC)Ccpcz HOM Early adult 6.84×10-05
increased fasting circulating glucose level Crxem1(IMPC)Ccpcz HOM Early adult 4.54×10-07
small thymus Crxem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Crxem1(IMPC)Ccpcz HOM Early adult 0.00
decreased exploration in new environment Crxem1(IMPC)Ccpcz HOM Early adult 3.56×10-07
enlarged urinary bladder Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal retina morphology Crxem1(IMPC)Ccpcz HOM Early adult 3.69×10-09
abnormal heart morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal urinary bladder morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal skin morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged thymus Crxem1(IMPC)Ccpcz HOM Early adult 0.00
small testis Crxem1(IMPC)Ccpcz HOM Early adult 0.00
short tibia Crxem1(IMPC)Ccpcz HOM Early adult 2.40×10-05

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 Forepaw

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

32 Images

X-ray

XRay Images Hind Leg and Hip

32 Images

X-ray

XRay Images Skull Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

16 Images

Human diseases caused by Crx 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 Crx by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Choroidal Dystrophy, Central Areolar, 1
Chorioretinal atrophy, Choriocapillaris atrophy, Pigmentary retinopathy OMIM:215500
Occult Macular Dystrophy
Macular dystrophy, Slow decrease in visual acuity, Abnormal multifocal electroretinogram, Abnorma... OMIM:613587
Macular Dystrophy, Vitelliform, 2
Cystoid macular degeneration, Macular dystrophy, Subretinal fluid, Reduced visual acuity, Abnorma... OMIM:153700
Sorsby Fundus Dystrophy
Macular dystrophy, Chorioretinal atrophy, Blindness, Abnormal electroretinogram OMIM:136900
Macular Dystrophy, Vitelliform, 4
Macular dystrophy, Drusen, Decreased Arden ratio of electrooculogram, Vitelliform-like macular le... OMIM:616151
Stargardt Disease
Retinal thinning, Color vision defect, Central scotoma, Abnormality of macular pigmentation, Macu... ORPHA:827
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Retinitis Pigmentosa 36
Bone spicule pigmentation of the retina, Macular degeneration, Attenuation of retinal blood vesse... OMIM:610599
Retinitis Pigmentosa 42
Cystoid macular edema, Peripapillary atrophy, Reduced visual acuity, Perifoveal ring of hyperauto... OMIM:612943
Optic Atrophy 5
Optic atrophy, Constriction of peripheral visual field, Tritanomaly, Abnormality of pattern visua... OMIM:610708
Leber Congenital Amaurosis 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Optic disc pallor,... OMIM:612712
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Attenuation of retinal blood vessels, Reduced visual acuity, Abnormal electroretin... OMIM:165510
Retinitis Pigmentosa 47
Chorioretinal atrophy, Pigmentary retinopathy, Decreased light- and dark-adapted electroretinogra... OMIM:613758
Retinitis Pigmentosa 27
Constriction of peripheral visual field, Undetectable electroretinogram, Bone spicule pigmentatio... OMIM:613750
Macular Dystrophy, Patterned, 2
Reduced visual acuity, Pattern dystrophy of the retina, Drusen, Foveal hyperpigmentation OMIM:608970
Cleft Lip-Retinopathy Syndrome
Retinopathy, Abnormality of retinal pigmentation ORPHA:1995
Bothnia Retinal Dystrophy
Macular degeneration, Nyctalopia, Retinal dystrophy, Abnormal electroretinogram OMIM:607475
Cone-Rod Dystrophy 12
Color vision defect, Central scotoma, Bull's eye maculopathy, Cone/cone-rod dystrophy, Abnormal l... OMIM:612657
Retinitis Pigmentosa 54
Bone spicule pigmentation of the retina, Fundus atrophy, Attenuation of retinal blood vessels, Ab... OMIM:613428
Stargardt Disease 3
Macular dystrophy, Macular flecks, Reduced visual acuity, Macular atrophy, Visual impairment OMIM:600110
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Undetectable light- and dark-adapted electroretinogram, ... OMIM:614180
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization OMIM:617111
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Retinitis Pigmentosa 29
Attenuation of retinal blood vessels, Rod-cone dystrophy, Blindness OMIM:612165
Sorsby Pseudoinflammatory Fundus Dystrophy
Large central visual field defect, Macular dystrophy, Abnormal fundus autofluorescence imaging, V... ORPHA:59181
Macular Dystrophy, Vitelliform, 5
Macular dystrophy, Central scotoma, Reduced visual acuity, Vitelliform-like macular lesions, Mode... OMIM:616152
Central Areolar Choroidal Dystrophy
Full-thickness macular hole, Drusen, Visual loss, Foveal photoreceptor outer segment loss on macu... ORPHA:75377
Choroideremia
Abnormality of vision, Abnormality of retinal pigmentation, Abnormal electroretinogram, Myopia, P... ORPHA:180
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Attenuation of retinal blood... OMIM:613731
Bietti Crystalline Dystrophy
Large central visual field defect, Retinal thinning, Constriction of peripheral visual field, Col... ORPHA:41751
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Adult-onset night blindness, Chorioretinal atrophy, Atte... OMIM:608133
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Undetectable electroretinogram, Perifoveal hypoautofluor... OMIM:615780
Retinitis Pigmentosa 39
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613809
Bardet-Biedl Syndrome 13
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:615990
Bothnia Retinal Dystrophy
Color vision defect, Central scotoma, Paracentral scotoma, Abnormal foveal morphology, Visual fie... ORPHA:85128
Macular Dystrophy, Retinal, 1, North Carolina Type
Macular dystrophy, Drusen, Central scotoma, Dyschromatopsia, Abnormality of macular pigmentation,... OMIM:136550
Macular Dystrophy, Retinal, 2
Granular macular appearance, Macular dystrophy, Central scotoma, Dyschromatopsia, Reduced visual ... OMIM:608051
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Blindness, Retinopat... OMIM:180210
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Optic Atrophy 9
Optic atrophy, Red-green dyschromatopsia, Paracentral scotoma, Reduced visual acuity, Visual impa... OMIM:616289
Retinitis Pigmentosa 19
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Attenuation of ... OMIM:601718
Leber Congenital Amaurosis 12
Abnormality of macular pigmentation, Congenital blindness OMIM:610612
Retinitis Pigmentosa 50
Retinal detachment, Attenuation of retinal blood vessels, Reduced visual acuity, Abnormal electro... OMIM:613194
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Retinitis Pigmentosa 35
Rod-cone dystrophy, Reduced visual acuity, Blindness, Nyctalopia OMIM:610282
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Retinitis Pigmentosa 11
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Macular degener... OMIM:600138
Retinitis Pigmentosa 32
Undetectable electroretinogram, Bone spicule pigmentation of the retina, Photophobia, Photorecept... OMIM:609913
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Cone-Rod Dystrophy 13
Color vision defect, Photophobia, Undetectable light- and dark-adapted electroretinogram, Macular... OMIM:608194
Late-Onset Retinal Degeneration
Sub-RPE deposits, Adult-onset night blindness, Visual loss, Choroidal neovascularization, Scotoma... OMIM:605670
Night Blindness, Congenital Stationary, Autosomal Dominant 2
Congenital stationary night blindness, Reduced visual acuity, Abnormal fundus morphology, Moderat... OMIM:163500
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Abnormal light- and dark-adapted electroretinogram, Atte... OMIM:613801
Cone-Rod Dystrophy 22
Photophobia, Hyperautofluorescent macular lesion, Bull's eye maculopathy, Attenuation of retinal ... OMIM:619531
Retinitis Pigmentosa 1
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Scotoma, Undete... OMIM:180100
Newfoundland Rod-Cone Dystrophy
Color vision defect, Bone spicule pigmentation of the retina, Scotoma, Retinal dystrophy, Central... OMIM:607476
Retinitis Pigmentosa 30
Optic atrophy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Attenuation of ret... OMIM:607921
Persistent Placoid Maculopathy
Choroidal neovascularization, Metamorphopsia, Hypoplasia of the fovea, Reduced visual acuity, Sci... ORPHA:97341
Choroideremia
Granular macular appearance, Bone spicule pigmentation of the retina, Chorioretinal degeneration,... OMIM:303100
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Leber Congenital Amaurosis 4
Undetectable light- and dark-adapted electroretinogram, Blindness, Cone/cone-rod dystrophy, Atten... OMIM:604393
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Rod-cone dystrophy, Severely reduced visual acuity ORPHA:3011
Macular Degeneration, Early-Onset
Macular degeneration, Reduced visual acuity, Choroidal neovascularization OMIM:616118
Macular Dystrophy, Vitelliform, 1
Macular dystrophy, Visual field defect, Reduced visual acuity, Vitelliform-like macular lesions, ... OMIM:153840
Macular Dystrophy, Patterned, 1
Dark choroid, Pattern dystrophy of the retina, Macular dystrophy, Choroidal neovascularization, Y... OMIM:169150
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Progressive visual loss, Attenuation of retinal blood ve... OMIM:617781
Retinitis Pigmentosa 9
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Undetectable li... OMIM:180104
Retinitis Pigmentosa 62
Bone spicule pigmentation of the retina, Bull's eye maculopathy, Attenuation of retinal blood ves... OMIM:614181
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Decreased light- and dark-adapted electroretinogram amplitude, Reduced visual acui... OMIM:611809
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Visual field defect, Reduced visual acu... OMIM:615725
Intellectual Developmental Disorder And Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Abnormal flash visual evoked potentials, Macular degener... OMIM:618195
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 33
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Visual impairment,... OMIM:610359
Retinitis Pigmentosa 76
Constriction of peripheral visual field, Retinal thinning, Bone spicule pigmentation of the retin... OMIM:617123
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials, Visual loss, Central scotoma, Abn... OMIM:616648
Retinitis Pigmentosa 73
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... OMIM:616544
Retinitis Pigmentosa 85
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity OMIM:618345
Retinitis Pigmentosa 63
Nyctalopia, Rod-cone dystrophy, Optic disc pallor, Blurred vision OMIM:614494
Cone Dystrophy 4
Photophobia, Undetectable light-adapted electroretinogram, Dyschromatopsia, Cone/cone-rod dystrop... OMIM:613093
Congenital Stationary Night Blindness
Abnormal dark-adapted electroretinogram, Retinal thinning, Color vision defect, Hypermetropia, Co... ORPHA:215
Macular Dystrophy, Retinal, 4
Reduced visual acuity, Reduced OCT-measured foveal thickness, Choroidal neovascularization, Nycta... OMIM:619977
Cone-Rod Dystrophy 24
Color vision defect, Scotoma, Photophobia, Macular degeneration, Macular drusen, Cone/cone-rod dy... OMIM:620342
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Leber-Like Hereditary Optic Neuropathy, Autosomal Recessive 1
Central retinal vessel vascular tortuosity, Retinal telangiectasia, Central scotoma, Reduced visu... OMIM:619382
Retinitis Pigmentosa 57
Bone spicule pigmentation of the retina, Cystoid macular edema, Attenuation of retinal blood vess... OMIM:613582
Oguchi Disease 2
Congenital stationary night blindness, Mizuo phenomenon OMIM:613411
Oguchi Disease 1
Congenital stationary night blindness, Mizuo phenomenon OMIM:258100
Cone-Rod Dystrophy 7
Color vision defect, Bull's eye maculopathy, Cone/cone-rod dystrophy, Retinal flecks, Macular atr... OMIM:603649
Retinitis Pigmentosa 81
Bone spicule pigmentation of the retina, Attenuation of retinal blood vessels, Reduced visual acu... OMIM:617871
Cone-Rod Dystrophy 2
Constriction of peripheral visual field, Color vision defect, Bone spicule pigmentation of the re... OMIM:120970
Retinitis Pigmentosa 78
Cystoid macular edema, Photopsia, Visual field defect, Reduced visual acuity, Optic disc pallor, ... OMIM:617433
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinitis Pigmentosa 93
Constriction of peripheral visual field, Undetectable electroretinogram, Retinal dots, Reduced vi... OMIM:619845
Retinitis Pigmentosa 18
Scotoma, Nyctalopia, Retinal arteriolar constriction, Rod-cone dystrophy, Progressive visual fiel... OMIM:601414
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Liberfarb Syndrome
Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment epithelial mottlin... OMIM:618889
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1574
Senior-Loken Syndrome 6
Rod-cone dystrophy, Reduced visual acuity, Visual impairment OMIM:610189
Retinitis Pigmentosa 17
Color vision defect, Bone spicule pigmentation of the retina, Photophobia, Rod-cone dystrophy, Ny... OMIM:600852
Retinitis Pigmentosa 70
Constriction of peripheral visual field, Macular degeneration, Attenuation of retinal blood vesse... OMIM:615922
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Doyne Honeycomb Retinal Dystrophy
Visual impairment, Retinal dystrophy, Reticular pigmentary degeneration OMIM:126600
Retinitis Pigmentosa 20
Attenuation of retinal blood vessels, Rod-cone dystrophy, Severely reduced visual acuity, Visual ... OMIM:613794
Retinitis Pigmentosa 96
Retinal thinning, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:620228
Cone-Rod Dystrophy, X-Linked, 1
Color vision defect, Photophobia, Hypoautofluorescent macular lesion, Reduced visual acuity, Reti... OMIM:304020
Cone-Rod Dystrophy 21
Photophobia, Retinal dystrophy, Reduced visual acuity, Macular atrophy, Nyctalopia OMIM:616502
Retinitis Pigmentosa 31
Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels, Visual field defect, Ab... OMIM:609923
Optic Atrophy 1
Optic atrophy, Tritanomaly, Central scotoma, Red-green dyschromatopsia, Abnormal amplitude of pat... OMIM:165500
Retinal Cone Dystrophy 4
Constriction of peripheral visual field, Photophobia, Electronegative electroretinogram, Cone/con... OMIM:610478
Cone Rod Dystrophy
Color vision defect, Photophobia, Abnormality of retinal pigmentation, Visual impairment, Nyctalopia ORPHA:1872
Retinitis Pigmentosa 38
Constriction of peripheral visual field, Progressive visual loss, Peripheral retinal atrophy, Rod... OMIM:613862
Macular Degeneration, Age-Related, 13
Macular degeneration, Macular scar, Drusen, Choroidal neovascularization OMIM:615439
Retinopathy Of Prematurity
Vitreous hemorrhage, Tractional retinal detachment, Reduced visual acuity, Abnormal retinal vascu... ORPHA:90050
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Macular degeneration, Retinal pigment epithelial mottling OMIM:600977
Macular Dystrophy, Vitelliform, 3
Macular dystrophy, Color vision defect, Drusen, Choroidal neovascularization, Photophobia, Metamo... OMIM:608161
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular degeneration, Subretinal deposits, Choriocapillaris atrophy, Reduced visual acuity, Blind... OMIM:601553
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Photophobia, Retinal dystrophy, Central scotoma, Reduced visual acuity, Optic disc pallor, Nyctal... OMIM:616079
Ataxia-Tapetoretinal Degeneration Syndrome
Rod-cone dystrophy, Pigmentary retinopathy ORPHA:1178
Leber Congenital Amaurosis 14
Undetectable electroretinogram, Retinal dystrophy, Photophobia, Decreased light- and dark-adapted... OMIM:613341
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Color vision defect, Photophobia, Attenuation of retinal... OMIM:613660
Retinitis Pigmentosa 95
Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Perifoveal ring of... OMIM:620102
Night Blindness, Congenital Stationary, Type 1F
Congenital stationary night blindness, High myopia, Electronegative electroretinogram, Reduced vi... OMIM:615058
Cone-Rod Dystrophy 19
High myopia, Cone/cone-rod dystrophy, Reduced visual acuity, Perifoveal ring of hyperautofluoresc... OMIM:615860
Retinitis Pigmentosa 90
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular... OMIM:619007
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:2246
Retinal Cone Dystrophy 1
Color vision defect, Photophobia, Bull's eye maculopathy, Cone/cone-rod dystrophy, Abnormal elect... OMIM:180020
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Retinitis Pigmentosa 28
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Rod-cone dystro... OMIM:606068
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Fleck Retina, Familial Benign
Retinal flecks, Visual impairment, Nyctalopia OMIM:228980
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Pigmentary retinopathy, Paracentral scotoma, Visual impa... OMIM:619614
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 87 With Choroidal Involvement
Nummular pigmentation of the fundus, Chorioretinal atrophy, Bone spicule pigmentation of the reti... OMIM:618697
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebral atrophy, Cerebellar atrophy, Retinopathy, Neurodegeneration, Pigmentary r... OMIM:610951
Retinitis Pigmentosa
Constriction of peripheral visual field, Rod-cone dystrophy, Nyctalopia, Abnormality of fundus pi... OMIM:268000
Progressive Bifocal Chorioretinal Atrophy
Macular atrophy, Pigmentary retinopathy, Chorioretinal dystrophy ORPHA:75373
Fundus Albipunctatus
Fundus albipunctatus, Retinal flecks, Nyctalopia OMIM:136880
Pigmented Paravenous Chorioretinal Atrophy
Paravenous chorioretinal atrophy, Vitreoretinopathy, Bone spicule pigmentation of the retina OMIM:172870
Retinal Cone Dystrophy 3A
Abnormal light-adapted flicker electroretinogram, Photophobia, Cone dystrophy, High myopia, Dysch... OMIM:610024
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 71
Optic disc drusen, Attenuation of retinal blood vessels, Perifoveal ring of hyperautofluorescence... OMIM:616394
Retinitis Pigmentosa 79
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, At... OMIM:617460
Cone Dystrophy 3
Photophobia, Progressive visual loss, Cone/cone-rod dystrophy, Reduced visual acuity, Macular atr... OMIM:602093
Leber Congenital Amaurosis 2
Undetectable light- and dark-adapted electroretinogram, Photophobia, Blindness, Optic disc pallor... OMIM:204100
Canavan Disease
Optic atrophy, Blindness, Abnormality of visual evoked potentials, Abnormality of retinal pigment... ORPHA:141
Prolonged Electroretinal Response Suppression 2
Abnormal fundus morphology, Photophobia, Mildly reduced visual acuity, Difficulty adjusting to ch... OMIM:620344
Best Vitelliform Macular Dystrophy
Cystoid macular degeneration, Color vision defect, Choroideremia, Visual field defect, Metamorpho... ORPHA:1243
Cavitary Optic Disc Anomalies
Visual field defect, Peripapillary atrophy, Reduced visual acuity, Nyctalopia OMIM:611543
Microphthalmia, Isolated 5
Bone spicule pigmentation of the retina, Photophobia, Foveoschisis, Cystoid macular edema, Optic ... OMIM:611040
Nystagmus 6, Congenital, X-Linked
Hypopigmentation of the fundus, Retinal pigment epithelial mottling OMIM:300814
Retinitis Pigmentosa 58
Bone spicule pigmentation of the retina, Macular degeneration, Peripheral visual field loss, Abno... OMIM:613617
Retinitis Pigmentosa 45
Bone spicule pigmentation of the retina, Macular degeneration, Peripheral visual field loss, Abno... OMIM:613767
Retinitis Pigmentosa 12
Undetectable electroretinogram, Bone spicule pigmentation of the retina, Attenuation of retinal b... OMIM:600105
Cone-Rod Dystrophy 16
Bone spicule pigmentation of the retina, Photophobia, Progressive visual loss, Cone/cone-rod dyst... OMIM:614500
Leber Congenital Amaurosis 19
Optic disc pallor, Attenuation of retinal blood vessels, Decreased light- and dark-adapted electr... OMIM:618513
Retinitis Pigmentosa 84
Macular coloboma, Bone spicule pigmentation of the retina, Visual acuity no light perception, Att... OMIM:618220
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinopathy, Rod-cone dystrophy, Retinal pigment epithelial mottling, Corticospinal tract atrophy OMIM:551500
Retinal Capillary Malformation
Retinal exudate, Progressive visual loss, Retinal capillary hemangioma, Vitreous floaters, Photop... ORPHA:71213
Retinitis Pigmentosa 3
Constriction of peripheral visual field, Color vision defect, Perifoveal hypoautofluorescence, Bo... OMIM:300029
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal degeneration, Retinal pigment epithelial mottling, Peripapillary atrophy OMIM:617879
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Reduced visual acuity, Retinal ... OMIM:605750
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Optic Atrophy 16
Color vision defect, Visual loss, Central scotoma, Temporal optic disc pallor, Mildly reduced vis... OMIM:620629
Usher Syndrome, Type Iiia
Visual field defect, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia OMIM:276902
Leber Congenital Amaurosis 9
Optic atrophy, Macular coloboma, Macular hypopigmentation, Bone spicule pigmentation of the retin... OMIM:608553
Macular Dystrophy, Retinal, 3
Color vision defect, Retinal pigment epithelial atrophy, Hyperautofluorescent macular lesion, Cen... OMIM:608850
Retinitis Pigmentosa 88
Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular edema, Attenuation... OMIM:618826
Tritanopia
Tritanomaly, Color vision test abnormality, Photophobia, Reduced visual acuity, Abnormal retinal ... ORPHA:88629
Retinitis Pigmentosa 41
Undetectable electroretinogram, Bone spicule pigmentation of the retina, Macular degeneration, Pi... OMIM:612095
Retinitis Pigmentosa 2
Constriction of peripheral visual field, Chorioretinal degeneration, Central scotoma, High myopia... OMIM:312600
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Tritanomaly, Dyschromatopsia, Central scotoma, Red-green dyschromatopsia, Abnormal... OMIM:125250
Temporal Arteritis
Retinal arteritis, Blindness OMIM:187360
Exudative Vitreoretinopathy 5
Retinal exudate, Tractional retinal detachment, Reduced visual acuity, Exudative vitreoretinopath... OMIM:613310
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Macular Dystrophy With Central Cone Involvement
Macular dystrophy, Central scotoma, High myopia, Red-green dyschromatopsia, Bull's eye maculopath... OMIM:616170
Achromatopsia 7
Achromatopsia, Photophobia, Central scotoma, Hypoplasia of the fovea, Reduced visual acuity, Abse... OMIM:616517
Usher Syndrome, Type Iid
Rod-cone dystrophy, Nyctalopia OMIM:611383
Retinitis Pigmentosa 10
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Geographic atro... OMIM:180105
Cone-Rod Dystrophy, X-Linked, 3
Color vision defect, Photophobia, Central scotoma, Retinal detachment, Abnormality of macular pig... OMIM:300476
Achromatopsia
Color vision defect, Color vision test abnormality, Inner retinal layer loss on macular OCT, Unde... ORPHA:49382
Retinitis Pigmentosa 44
Constriction of peripheral visual field, Attenuation of retinal blood vessels, Decreased light- a... OMIM:613769
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type
Optic atrophy, Severely reduced visual acuity, Blindness OMIM:309555
Optic Atrophy 12
Optic atrophy, Photophobia, Dyschromatopsia, Reduced visual acuity, Abnormal Ishihara plate test,... OMIM:618977
Night Blindness, Congenital Stationary, Autosomal Dominant 3
Congenital stationary night blindness OMIM:610444
Åland Islands Eye Disease
Color vision defect, Reduced visual acuity, Hypoplasia of the fovea, Abnormal electroretinogram, ... ORPHA:178333
Retinitis Pigmentosa 6
Rod-cone dystrophy, Pigmentary retinopathy, Chorioretinal degeneration OMIM:312612
Usher Syndrome, Type Iv
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Hyperautofluore... OMIM:618144
Retinitis Pigmentosa 26
Constriction of peripheral visual field, Undetectable light- and dark-adapted electroretinogram, ... OMIM:608380
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar vermis atrophy, Cerebellar atrophy, Corpus callosum atrophy, Retinal pigment epithelia... OMIM:619389
Cone-Rod Dystrophy 18
Foveal hyperpigmentation, Central scotoma, High myopia, Cone/cone-rod dystrophy, Foveal atrophy, ... OMIM:615374
Vitreoretinopathy, Neovascular Inflammatory
Posterior retinal neovascularization, Peripheral retinal neovascularization, Retinal detachment, ... OMIM:193235
Retinitis Pigmentosa 25
Constriction of peripheral visual field, Undetectable electroretinogram, Bone spicule pigmentatio... OMIM:602772
Retinitis Pigmentosa 43
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Peripheral visual field loss, At... OMIM:613810
Retinitis Pigmentosa 14
Constriction of peripheral visual field, Undetectable electroretinogram, Bone spicule pigmentatio... OMIM:600132
Retinoschisis 1, X-Linked, Juvenile
Hypermetropia, Retinal detachment, Progressive visual loss, Retinal atrophy, Retinoschisis, Elect... OMIM:312700
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Photophobia, High myopia, Macular degeneration, Abnormal... OMIM:613464
Retinitis Pigmentosa 49
Bone spicule pigmentation of the retina, Peripheral visual field loss, Attenuation of retinal blo... OMIM:613756
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cerebral atrophy, Retinal dystrophy, Retinal detachment, Abnormality of skin pigmentation, Abnorm... OMIM:251270
Retinitis Pigmentosa 13
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Asteroid hyalos... OMIM:600059
Familial Exudative Vitreoretinopathy
Macular telangiectasia, Macular exudate, Retinal neovascularization, Chorioretinal atrophy, Vitre... ORPHA:891
Retinal Cone Dystrophy 3B
Scotoma, Photophobia, Cone/cone-rod dystrophy, Reduced visual acuity, Myopia, Macular atrophy, Ny... OMIM:610356
Central Retinal Vein Occlusion
Large central visual field defect, Visual loss, Retinal neovascularization, Macular degeneration,... ORPHA:411527
Night Blindness, Congenital Stationary, Type 2A
Congenital stationary night blindness, Electronegative electroretinogram, Reduced visual acuity, ... OMIM:300071
Exudative Vitreoretinopathy 4
Posterior vitreous detachment, Retinal exudate, Tractional retinal detachment, Exudative vitreore... OMIM:601813
Blue Cone Monochromacy
Photophobia, Abnormality of macular pigmentation, Reduced visual acuity, Blue cone monochromacy, ... OMIM:303700
Cone-Rod Dystrophy 20
Constriction of peripheral visual field, Tritanomaly, Bone spicule pigmentation of the retina, Ce... OMIM:615973
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Blindness,... OMIM:133780
Optic Atrophy 15
Optic atrophy, Photophobia, Dyschromatopsia, Central scotoma, Reduced visual acuity, Optic disc p... OMIM:620583
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Reduced visual acuity, Visual impairment OMIM:616335
Retinitis Pigmentosa 77
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Cystoid macular... OMIM:617304
Retinitis Punctata Albescens
Yellow/white lesions of the retina, Photophobia, Central scotoma, Cystoid macular edema, Progress... ORPHA:52427
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Color vision defect, Reduced visual acuity, Optic disc pallor OMIM:618511
Leber Congenital Amaurosis 1
Photophobia, Optic disc drusen, Blindness, Fundus atrophy, Attenuation of retinal blood vessels, ... OMIM:204000
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Scotoma, Reduced visual acuity, Optic disc pallor OMIM:165300
Leber Congenital Amaurosis 16
Photophobia, Optic disc pallor, Visual field defect, Reduced visual acuity, Visual impairment, Ny... OMIM:614186
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Constriction of peripheral visual field, Hypermetropia, Retinal deg... OMIM:267760
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Tritanomaly, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Absent foveal reflex, Peripher... OMIM:615147
Retinitis Pigmentosa 37
Cystoid macular degeneration, Constriction of peripheral visual field, Tritanomaly, Undetectable ... OMIM:611131
Bardet-Biedl Syndrome 21
Constriction of peripheral visual field, Retinal thinning, Hyperautofluorescent macular lesion, R... OMIM:617406
Retinitis Pigmentosa 66
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Central scotoma... OMIM:615233
Ceroid Lipofuscinosis, Neuronal, 3
Optic atrophy, Concentric hypertrophic cardiomyopathy, Macular degeneration, Reduced visual acuit... OMIM:204200
Retinitis Pigmentosa 83
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Asteroid hyalos... OMIM:618173
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Cerebellar atrophy, Pigmentary retinopathy OMIM:619090
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Constriction of peripheral visual field, Temporal optic disc pallor, Absent brains... ORPHA:1215
Morning Glory Disc Anomaly
Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma ORPHA:35737
Night Blindness, Congenital Stationary, Type 1G
Congenital stationary night blindness, Constriction of peripheral visual field, Visual impairment... OMIM:616389
Oculocutaneous Albinism Type 1
Optic nerve misrouting, Photophobia, Abnormal morphology of the choroidal vasculature, Depigmente... ORPHA:352731
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Bornholm Eye Disease
Deuteranopia, Protanopia, High myopia, Optic nerve hypoplasia, Abnormality of retinal pigmentatio... OMIM:300843
Retinitis Pigmentosa 86
Bone spicule pigmentation of the retina, Cystoid macular edema, Nummular pigmentation of the fund... OMIM:618613
Retinal Dystrophy And Obesity
Retinal dystrophy, Retinal detachment, Retinal dots, Attenuation of retinal blood vessels, Peripa... OMIM:616188
Eales Disease
Retinal thinning, Ischemic stroke, Peripheral retinal neovascularization, Cystoid macular edema, ... ORPHA:40923
Irvan Syndrome
Optic atrophy, Retinal exudate, Photophobia, Retinal detachment, Vitreous floaters, Tractional re... ORPHA:209943
Retinitis Pigmentosa 46
Attenuation of retinal blood vessels, Rod-cone dystrophy, Optic disc pallor, Pigmentary retinopathy OMIM:612572
Retinitis Pigmentosa 60
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Peripheral visu... OMIM:613983
Gyrate Atrophy Of Choroid And Retina
Chorioretinal atrophy, Macular thickening, Visual impairment, Foveoschisis, Myopia, Blindness, Ny... OMIM:258870
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Cone-Rod Synaptic Disorder, Congenital Nonprogressive
Congenital stationary night blindness, Color vision defect, Photophobia, Electronegative electror... OMIM:610427
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Central retinal vessel vascular tortuosity, Retinal pigment epithelial mottling, Hyporeflective s... ORPHA:506353
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Choriocapillaris at... OMIM:613835
Optic Atrophy 14
Constriction of peripheral visual field, Reduced visual acuity, Optic disc pallor OMIM:620550
Cone-Rod Dystrophy 3
Pigmentary retinopathy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Attenuation of retinal b... OMIM:604116
Morm Syndrome
Visual impairment, Progressive night blindness, Retinal atrophy, Retinal dystrophy ORPHA:75858
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal atrophy, Myopia, Visual impairment, Chorioretinal dystrophy OMIM:600790
Cone-Rod Dystrophy 8
Photophobia, Macular degeneration, Abnormal optic nerve morphology, Cone/cone-rod dystrophy, Peri... OMIM:605549
Wolfram-Like Syndrome, Autosomal Dominant
Optic atrophy, Blind-spot enlargment, Reduced visual acuity, Severely reduced visual acuity, Opti... OMIM:614296
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Abnormal fundus morphology, Absent retinal pigment epithelium, Abnormal optic nerve morphology, A... ORPHA:436274
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of retinal blood vessels,... OMIM:616108
Ceroid Lipofuscinosis, Neuronal, 1
Optic atrophy, Undetectable electroretinogram, Macular degeneration, Decreased light- and dark-ad... OMIM:256730
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, High myopia, Retinal fold, Intraretinal exudate, Peripheral vitreous opacitie... OMIM:305390
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Nyctalopia OMIM:618632
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Optic Atrophy 6
Optic atrophy, Photophobia, Red-green dyschromatopsia, Retinal degeneration, Visual impairment OMIM:258500
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Arcuate scotoma, Visual loss, Choroidal neov... ORPHA:179
Peripheral Cone Dystrophy
Optic atrophy, Peripheral retinal degeneration, Pericentral scotoma, Cone/cone-rod dystrophy, Par... OMIM:609021
Cone-Rod Dystrophy 6
Bone spicule pigmentation of the retina, Photophobia, Dyschromatopsia, Progressive night blindnes... OMIM:601777
Acute Zonal Occult Outer Retinopathy
Visual loss, Central scotoma, Marcus Gunn pupil, Visual field defect, Reduced visual acuity, Abno... ORPHA:284454
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Retinitis Pigmentosa 72
Constriction of peripheral visual field, Bone spicule pigmentation of the retina, Photophobia, Hi... OMIM:616469
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Photophobia, Macular degeneration, Peripheral visual fie... OMIM:610283
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete... ORPHA:436245
Late Infantile Neuronal Ceroid Lipofuscinosis
EEG with spike-wave complexes, Visual loss, Abnormal amplitude of flash visual evoked potentials,... ORPHA:168491
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Enhanced S-Cone Syndrome
Undetectable electroretinogram, Vitreoretinopathy, Hemeralopia, Retinoschisis, Macular edema, Pig... OMIM:268100
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Exudative retinal detachment OMIM:614224
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Vitreoretinochoroidopathy
Color vision defect, Dyschromatopsia, Retinal detachment, Abnormality of chorioretinal pigmentati... OMIM:193220
Idiopathic Uveal Effusion Syndrome
Visual field defect, Reduced visual acuity, Exudative retinal detachment, Subretinal fluid, Blurr... ORPHA:209956
Jalili Syndrome
Bone spicule pigmentation of the retina, Scotoma, Photophobia, Monochromacy, Cone/cone-rod dystro... OMIM:217080
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Oliver-Mcfarlane Syndrome
Central heterochromia, Retinal degeneration, Pigmentary retinopathy OMIM:275400
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal degeneration, Chorioretinal atrophy, Choro... OMIM:303110
Retinitis Pigmentosa 97
Macular degeneration, Reduced visual acuity, Rod-cone dystrophy, Amblyopia, Nyctalopia OMIM:620422
Adult-Onset Foveomacular Vitelliform Dystrophy
Color vision defect, Abnormality of vision, Retinal nonattachment, Choroideremia, Visual field de... ORPHA:99000
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Reduced visual acuity, Abnormal electroretinogram OMIM:613216
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Optic atrophy, Blindness ORPHA:2787
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Ataxia With Vitamin E Deficiency
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Visual impairment, ... ORPHA:96
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment OMIM:164100
Oguchi Disease
Congenital stationary night blindness, Macular degeneration, Electronegative electroretinogram, M... ORPHA:75382
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Undetectable electroretinogram, Abnormality of pattern visual evoked potentials, Visual impairmen... ORPHA:1947
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma ORPHA:2196
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Fibular hypoplasia, Cryptorchidism, Absent thumb, Aplasia/Hypoplasia of t... OMIM:612447
Nanophthalmos 4
Optic disc drusen, Reduced visual acuity, Hypermetropia OMIM:615972
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic atrophy, Constriction of peripheral visual field, Central scotoma, Dyschromatopsia, Hypertr... OMIM:612989
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Color vision defect, Photophobia, Central scotoma, Blind-spot enlargment, Reduced visual acuity, ... OMIM:616732
Gyrate Atrophy Of Choroid And Retina
Constriction of peripheral visual field, Chorioretinal hyperpigmentation, Chorioretinal degenerat... ORPHA:414
Nephronophthisis 15
Retinal degeneration, Blindness OMIM:614845
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Eem Syndrome
Retinopathy, Macular dystrophy, Abnormality of retinal pigmentation ORPHA:1897
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Macular atrophy, Bull's eye maculopathy OMIM:610381
Mohr-Tranebjaerg Syndrome
Optic atrophy, Color vision defect, Visual loss, Photophobia, Central scotoma, Cerebral visual im... ORPHA:52368
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Abnormality of visual evoked potentials, Abnormal electroretinogram, Myopia, EEG a... ORPHA:2971
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Achromatopsia 2
Retinal thinning, Achromatopsia, Undetectable light-adapted electroretinogram, Photophobia, Hemer... OMIM:216900
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Color vision defect, Central scotoma, Slow decrease in visual acuity, Abnormality ... OMIM:601152
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Vitreoretinopathy, Abnormal optic disc morphology, Reduced visual acuity, Retinal vascular tortuo... ORPHA:440727
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Reduced visual acuity, Retinal dystrophy, Nyctalopia OMIM:610156
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris ... ORPHA:79435
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Cerebral atrophy, Abnormality of retinal pigmentation ORPHA:397951
Retinitis Pigmentosa 56
Bone spicule pigmentation of the retina, Pigmentary retinopathy, Attenuation of retinal blood ves... OMIM:613581
Late-Onset Retinal Degeneration
Tritanomaly, Drusen, Choroidal neovascularization, Visual loss, Patchy atrophy of the retinal pig... ORPHA:67042
Sandhoff Disease
Congestive heart failure, Cherry red spot of the macula, Blindness ORPHA:796
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Abnormal auditory evoked potentials, Amblyopia, Optic di... OMIM:617523
Chromosome 16Q12 Duplication Syndrome
Tritanomaly, Central thinning of the outer nuclear layer of the retina, Photophobia, Temporal opt... OMIM:619649
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Photoreceptor layer loss on macular OCT, Attenuation of retinal blood vessels, ... OMIM:145350
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Diabetes And Deafness, Maternally Inherited
Retinal degeneration, Pigmentary retinopathy OMIM:520000
Jalili Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1873
Congenital Glaucoma
Retinal detachment ORPHA:98976
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Fibular Hemimelia
Proximal femoral focal deficiency, Abnormal lower limb bone morphology, Tibial bowing, Increased ... ORPHA:93323
Spinocerebellar Ataxia 7
Optic atrophy, Macular degeneration, Pigmentary retinopathy OMIM:164500
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials, Abnormality of somatosensory evoked potentials, Abnormal... ORPHA:320401
Leber Congenital Amaurosis 6
Undetectable electroretinogram, Photophobia, Attenuation of retinal blood vessels, High hypermetr... OMIM:613826
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Aplasia/Hypoplasia of metat... OMIM:200700
Night Blindness, Congenital Stationary, Type 1E
Congenital stationary night blindness, High myopia, Reduced visual acuity, Visual impairment OMIM:614565
Bardet-Biedl Syndrome 3
Pigmentary retinopathy, Tricuspid regurgitation, Rod-cone dystrophy, Visual impairment, Nyctalopia OMIM:600151
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, EEG ... OMIM:245200
Oculocutaneous Albinism Type 6
Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Photophobia, Reduced visua... ORPHA:370097
Narp Syndrome
Constriction of peripheral visual field, Blindness, Retinal pigment epithelial mottling, Abnormal... ORPHA:644
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Optic atrophy, Visual loss, Undetectable visual evoked potentials, Visual impairment, Progressive... OMIM:601338
Laurence-Moon Syndrome
Chorioretinal atrophy, Pigmentary retinopathy OMIM:245800
Night Blindness, Congenital Stationary, Type 1B
Congenital stationary night blindness, Bone spicule pigmentation of the retina, Hemeralopia, Myop... OMIM:257270
Chromosome Xp11.3 Deletion Syndrome
Optic atrophy, Undetectable electroretinogram, Moderate myopia, Constriction of peripheral visual... OMIM:300578
Retinitis Pigmentosa 75
Bone spicule pigmentation of the retina, Peripheral visual field loss, Attenuation of retinal blo... OMIM:617023
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Friedreich Ataxia
Optic atrophy, Decreased sensory nerve conduction velocity, Abnormality of visual evoked potentia... OMIM:229300
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, High myopia, Peripheral vitreoretinal degeneration, Vitreous floaters, Mildly... OMIM:614292
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Syndactyly Type 4
Triphalangeal thumb, 6 metacarpals, 1-5 finger syndactyly, Foot polydactyly, Camptodactyly of fin... ORPHA:93405
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Retinal thinning, Photophobia, Reduced visual acuity, Optic disc pallor OMIM:618970
Albinism, Oculocutaneous, Type Vi
Visual impairment, Reduced visual acuity, Hypoplasia of the fovea, Photophobia OMIM:113750
Retinitis Pigmentosa 89
Constriction of peripheral visual field, Retinal thinning, Abnormal light-adapted flicker electro... OMIM:618955
Severe Early-Childhood-Onset Retinal Dystrophy
Undetectable electroretinogram, Color vision defect, Bone spicule pigmentation of the retina, Opt... ORPHA:364055
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Retinal degeneration, Pigmentary retinopathy ORPHA:3363
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Decreased nerve conduction velocity, Hypsarrhythmia, Abnormality of visual evoked ... ORPHA:485421
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, High myopia, Progressive night blindness, Chorioretinal ... OMIM:210370
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Abnormally shaped carpal bo... OMIM:201250
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cerebral visual impairment ORPHA:1389
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Cofs Syndrome
Optic atrophy, Abnormality of retinal pigmentation, Cerebral cortical atrophy ORPHA:1466
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Short 4th metacarpal, Epiphyseal stippling, Short 2nd metacarpal, Short long bone, Micromelia, Sh... OMIM:118651
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Visual impairment, ... ORPHA:1933
Primary Non-Essential Cutis Verticis Gyrata
Abnormality of pattern visual evoked potentials, Reduced visual acuity ORPHA:357225
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Spastic Paraplegia 79B, Autosomal Recessive
Optic atrophy, Visual loss, Abnormality of visual evoked potentials, Reduced visual acuity, Opto-... OMIM:615491
Oculocutaneous Albinism Type 1A
Photophobia, Abnormal optic nerve morphology, Abnormality of visual evoked potentials, Hypoplasia... ORPHA:79431
Spastic Paraplegia 81, Autosomal Recessive
Optic atrophy, Reduced visual acuity, Cerebral visual impairment, Retinal vascular tortuosity OMIM:618768
Bardet-Biedl Syndrome 4
Retinal degeneration, Rod-cone dystrophy, Nyctalopia OMIM:615982
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Congenital Disorder Of Glycosylation, Type Ig
Hypoplasia of the radius, Rhizomelia, Hypospadias, Sandal gap, Retinal detachment, Patent foramen... OMIM:607143
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Osebold-Remondini Syndrome
Hypoplasia of the ulna, Broad finger, Fibular hypoplasia, Tarsal synostosis, Hypoplasia of the ra... OMIM:112910
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity OMIM:618770
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Color vision defect, Decreased nerve conduction velocity, Central scotoma, Reduced... ORPHA:98890
Sjögren-Larsson Syndrome
Retinopathy, Generalized hyperpigmentation, Abnormality of retinal pigmentation, Macular degenera... ORPHA:816
Lethal Faciocardiomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Radial club hand, Sandal ga... ORPHA:1972
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity OMIM:615983
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome
Severely reduced visual acuity, Chorioretinal coloboma, Moderately reduced visual acuity, Retinal... ORPHA:2921
Mesomelic Dysplasia, Savarirayan Type
Fibular aplasia, Fibular hypoplasia, Abnormal foot morphology, Anterior tibial bowing, Dislocated... OMIM:605274
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy, Visual ... OMIM:125310
Aland Island Eye Disease
Protanopia, Hypoplasia of the fovea, Myopia, Hypopigmentation of the fundus, Severely reduced vis... OMIM:300600
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormality of retinal pigmentation, Heterochromia iridis, Abnormal retinal vascular morphology ORPHA:1390
Retinitis Pigmentosa 23
Constriction of peripheral visual field, Color vision defect, Photophobia, Mild myopia, Attenuati... OMIM:300424
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Dyschromatopsia, Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage, My... OMIM:264420
Leber Congenital Amaurosis 3
Constriction of peripheral visual field, Visual loss, Nyctalopia OMIM:604232
Waardenburg-Shah Syndrome
Premature graying of hair, Aganglionic megacolon, Hypopigmentation of hair, White forelock, Abnor... ORPHA:897
Peroxisomal Acyl-Coa Oxidase Deficiency
Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy OMIM:264470
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Leber Congenital Amaurosis 15
Constriction of peripheral visual field, Color vision defect, Photophobia, Hypermetropia, Hemeral... OMIM:613843
Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Photophobia, Progressive night blindness,... ORPHA:791
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Hypermetropia, Cerebral visual impairment, Abnormality of visual evoked potentials... OMIM:616875
Acromesomelic Dysplasia, Grebe Type
Fibular hypoplasia, Tarsal synostosis, Aplasia/Hypoplasia of the thumb, Postaxial hand polydactyl... ORPHA:2098
Optic Pathway Glioma
Optic atrophy, Visual loss, Papilledema, Visual field defect, Reduced visual acuity, Blindness ORPHA:2086
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Photophobia, Central scotoma, Attenua... OMIM:617547
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormal optic nerve morphology, Iris hyp... ORPHA:79434
Retinitis Pigmentosa 59
Constriction of peripheral visual field, Cystoid macular edema, Reduced visual acuity, Rod-cone d... OMIM:613861
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Night Blindness, Congenital Stationary, Type 1H
Mild myopia, Nyctalopia, Photophobia, Hypermetropia OMIM:617024
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal carpal morphology, Fibular hypoplasia,... OMIM:127300
Léri-Weill Dyschondrosteosis
Abnormal femur morphology, Abnormal hip bone morphology, Tibial bowing, Mesomelia, Abnormal epiph... ORPHA:240
Idiopathic Panuveitis
Choroidal neovascularization, Photophobia, Cystoid macular edema, Vitreous floaters, Vitreous sno... ORPHA:280921
Coloboma Of Macula
Macular coloboma OMIM:120300
Endove Syndrome, Limb-Only Type
Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ... OMIM:619217
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Mepan Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Reduced visual acuity ORPHA:508093
Ethanolaminosis
Cardiomegaly OMIM:227150
Neovascular Glaucoma
Visual loss, Photophobia, Retinal detachment, Retinal vascular proliferation, Abnormal optic nerv... ORPHA:94058
Corneal Dystrophy, Gelatinous Drop-Like
Visual impairment, Reduced visual acuity, Photophobia, Blurred vision OMIM:204870
Tibial Hemimelia
Aplasia of the 4th metacarpal, Proximal tibial and fibular fusion, Oligodactyly, Increased laxity... ORPHA:93322
Sarcosinemia
Optic atrophy, Congenital blindness, Pulmonic stenosis, Hypertrophic cardiomyopathy ORPHA:3129
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Visu... OMIM:256600
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Hypoplasia of the radius, Fibular hypoplasia, Mesomelic arm shortening, R... OMIM:249700
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Reduced visual acuity, Hypoplasia of the fovea, Photophobia OMIM:619165
Acrocapitofemoral Dysplasia
Cone-shaped epiphyses of the phalanges of the hand, Hypoplastic iliac wing, Delayed ossification ... OMIM:607778
Usher Syndrome Type 3
Visual loss, Scotoma, Hemianopia, Abnormal electroretinogram, High hypermetropia, Nyctalopia ORPHA:231183
Alpha-Methylacyl-Coa Racemase Deficiency
Rod-cone dystrophy, Pigmentary retinopathy OMIM:614307
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormal chorioretinal morphology, Visual loss, Photophobia, Chorioretinal atrophy, Hypertrophic ... ORPHA:5
Bardet-Biedl Syndrome 6
Rod-cone dystrophy, Pigmentary retinopathy OMIM:605231
Oculocutaneous Albinism Type 2
Blue irides, Optic nerve misrouting, Iris transillumination defect, Macular hypopigmentation, Hyp... ORPHA:79432
Coats Disease
Retinal detachment, Abnormal macular morphology, Abnormal retinal vascular morphology ORPHA:190
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Stickler Syndrome Type 2
Retinal detachment, Abnormal vitreous humor morphology, Retinopathy ORPHA:90654
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Undetectable electroretinogram, Decreased sensory nerve conduction velocity, Bone ... OMIM:609033
Hypotrichosis With Juvenile Macular Degeneration
Abnormality of macular pigmentation, Macular degeneration, Blindness ORPHA:1573
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Optic atrophy, Blindness ORPHA:216873
Mitochondrial Complex I Deficiency, Nuclear Type 39
Perimembranous ventricular septal defect, Anemia, Hypospadias, Hypertrophic cardiomyopathy, Cardi... OMIM:620135
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinopathy, Retinal pigment epithelial mottling OMIM:219900
Methanol Poisoning
Hypertension, Permanent atrial fibrillation, Abnormal optic nerve morphology, Blindness, Inflamma... ORPHA:31825
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Cerebellar Ataxia-Hypogonadism Syndrome
Optic atrophy, Abnormality of retinal pigmentation ORPHA:1173
Juvenile Paget Disease
Optic atrophy, Abnormality of retinal pigmentation, Melanocytic nevus ORPHA:2801
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Cerebral visual impairment, Abnormality of visual evoked potentials, Myopia, EEG a... ORPHA:480898
Exudative Vitreoretinopathy 6
Posterior vitreous detachment, Retinal exudate, Patchy atrophy of the retinal pigment epithelium,... OMIM:616468
Immunodeficiency 52
Lymphadenopathy, Abnormal natural killer cell count, T lymphocytopenia, Splenomegaly, Abnormal B ... OMIM:617514
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Migraine, Familial Hemiplegic, 3
Blindness, Photophobia OMIM:609634
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Optic nerve hypoplasia, Myopia, Blindness OMIM:615181
Pelizaeus-Merzbacher Disease
Optic atrophy, Abnormality of visual evoked potentials, Visual impairment ORPHA:702
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Charcot-Marie-Tooth Disease, Type 4D
Myopia, Abnormality of visual evoked potentials, Decreased nerve conduction velocity, Abnormal au... OMIM:601455
Retinitis Pigmentosa 74
Rod-cone dystrophy, Pigmentary retinopathy, Optic disc pallor OMIM:616562
Microphthalmia, Isolated 6
High hypermetropia, Amblyopia, Retinal fold OMIM:613517
Osteoporosis-Pseudoglioma Syndrome
Abnormal vitreous humor morphology, Retinal detachment, Exudative retinopathy, Congenital blindne... ORPHA:2788
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of visual evoked potenti... ORPHA:35069
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials, EEG with burst suppression OMIM:609304
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Foveal Hypoplasia 2
Hypoplasia of the fovea, Optic nerve misrouting, Reduced visual acuity, Foveal hyperpigmentation OMIM:609218
Peroxisome Biogenesis Disorder 9B
Constriction of peripheral visual field, Cardiomyopathy, Reduced visual acuity, Rod-cone dystroph... OMIM:614879
Peho Syndrome
Optic atrophy, Undetectable visual evoked potentials, Hypsarrhythmia OMIM:260565
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormality of pattern visual evoked potentials, Visual field defect, Abnormal electroretinogram,... ORPHA:166035
Infantile Refsum Disease
Optic atrophy, Constriction of peripheral visual field, Cardiomyopathy, Facial palsy, Arrhythmia,... ORPHA:772
Usher Syndrome Type 1
Visual loss, Scotoma, Hemianopia, Abnormal electroretinogram, High hypermetropia, Nyctalopia