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Gene: Crx MGI:1194883

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Gene Summary

Name:
cone-rod homeobox
Synonyms:
Crx1

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 6.75×10-05
enlarged thymus Crxem1(IMPC)Ccpcz HOM Early adult 0.00
small testis Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal thymus morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged heart Crxem1(IMPC)Ccpcz HOM Early adult 0.00
small thymus Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal testis morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal heart morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal seminal vesicle morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
enlarged urinary bladder Crxem1(IMPC)Ccpcz HOM Early adult 0.00
abnormal retina morphology Crxem1(IMPC)Ccpcz HOM Early adult 4.40×10-07
abnormal urinary bladder morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00
decreased exploration in new environment Crxem1(IMPC)Ccpcz HOM Early adult 9.55×10-07
short tibia Crxem1(IMPC)Ccpcz HOM Early adult 4.08×10-05
increased fasting circulating glucose level Crxem1(IMPC)Ccpcz HOM Early adult 2.07×10-07
abnormal skin morphology Crxem1(IMPC)Ccpcz HOM Early adult 0.00

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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 Skull Dorso Ventral Orientation

16 Images

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X-ray

XRay Images Forepaw

16 Images

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X-ray

XRay Images Hind Leg and Hip

32 Images

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X-ray

XRay Images Whole Body Dorso Ventral

32 Images

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X-ray

XRay Images Skull Lateral Orientation

16 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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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 associated to Crx by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... ORPHA:791
Leber Congenital Amaurosis 7
Photophobia, Visual impairment OMIM:613829

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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Choroidal Dystrophy, Central Areolar, 1
Pigmentary retinopathy, Chorioretinal atrophy, Choriocapillaris atrophy OMIM:215500
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Grouped Pigmentation Of The Retina
Abnormality of retinal pigmentation OMIM:233800
Hyperreflexia
Abnormality of retinal pigmentation OMIM:145290
Leber Congenital Amaurosis 13
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal dystrophy, Attenuation of ret... OMIM:612712
Retinitis Pigmentosa 36
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Rod-cone dystro... OMIM:610599
Cleft Lip-Retinopathy Syndrome
Abnormality of retinal pigmentation, Retinopathy ORPHA:1995
Retinitis Pigmentosa 42
Reduced visual acuity, Perifoveal ring of hyperautofluorescence, Peripapillary atrophy, Rod-cone ... OMIM:612943
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Sorsby Pseudoinflammatory Fundus Dystrophy
Blindness, Retinal atrophy, Choroidal neovascularization, Retinal pigment epithelial atrophy, Lar... ORPHA:59181
Central Areolar Choroidal Dystrophy
Macular atrophy, Foveal photoreceptor outer segment loss on macular OCT, Drusen, Retinal pigment ... ORPHA:75377
Stargardt Disease 3
Macular flecks, Macular atrophy, Reduced visual acuity, Macular dystrophy, Visual impairment OMIM:600110
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Bardet-Biedl Syndrome 13
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:615990
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy OMIM:267800
Macular Dystrophy, Patterned, 2
Drusen, Pattern dystrophy of the retina, Reduced visual acuity, Foveal hyperpigmentation OMIM:608970
Macular Dystrophy, Patterned, 3
Reduced visual acuity, Rod-cone dystrophy, Choroidal neovascularization, Macular atrophy OMIM:617111
Nephronophthisis
Abnormality of retinal pigmentation ORPHA:655
Night Blindness, Congenital Stationary, Autosomal Dominant 1
Congenital stationary night blindness, Bone spicule pigmentation of the retina OMIM:610445
Macular Dystrophy, Retinal, 2
Macular dystrophy, Perifoveal ring of hyperautofluorescence, Granular macular appearance, Retinal... OMIM:608051
Retinitis Pigmentosa 39
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613809
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Retinitis Pigmentosa 29
Blindness, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:612165
Macular Dystrophy, Vitelliform, 5
Moderately reduced visual acuity, Central scotoma, Reduced visual acuity, Vitelliform-like macula... OMIM:616152
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Abnormality of retinal pigmentation ORPHA:2579
Retinitis Pigmentosa 27
Bone spicule pigmentation of the retina, Peripapillary chorioretinal atrophy, Blindness, Macular ... OMIM:613750
Choroideremia
Bone spicule pigmentation of the retina, Chorioretinal degeneration, Retinal pigment epithelial m... OMIM:303100
Optic Atrophy 9
Optic disc pallor, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Paracentral s... OMIM:616289
Retinitis Pigmentosa 11
Optic disc pallor, Bone spicule pigmentation of the retina, Blindness, Constriction of peripheral... OMIM:600138
Bietti Crystalline Dystrophy
Blindness, Retinal pigment epithelial atrophy, Retinal thinning, Large central visual field defec... ORPHA:41751
Macular Dystrophy, Retinal, 1, North Carolina Type
Peripheral retinal atrophy, Drusen, Central scotoma, Reduced visual acuity, Abnormality of macula... OMIM:136550
Reticular Dystrophy Of Retinal Pigment Epithelium
Abnormality of retinal pigmentation, Pigmentary retinopathy OMIM:179840
Macular Dystrophy, Vitelliform, 2
Reduced visual acuity, Subretinal fluid, Cystoid macular degeneration, Macular dystrophy, Visual ... OMIM:153700
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Nanophthalmos
Abnormality of retinal pigmentation, Abnormal choroid morphology ORPHA:35612
Retinitis Pigmentosa 30
Bone spicule pigmentation of the retina, Optic atrophy, Chorioretinal atrophy, Rod-cone dystrophy... OMIM:607921
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Scotoma, Chorioretinal degeneration, Visual loss,... OMIM:605670
Macular Dystrophy, Retinal, 3
Macular drusen, Retinal pigment epithelial atrophy, Central scotoma, Reduced visual acuity, Color... OMIM:608850
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Retinitis Pigmentosa 47
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal atrophy OMIM:613758
Retinopathy Of Prematurity
Tractional retinal detachment, Blindness, Retinal arteriolar tortuosity, Abnormal retinal vascula... ORPHA:90050
Leber Congenital Amaurosis 12
Congenital blindness, Abnormality of macular pigmentation OMIM:610612
Macular Dystrophy, Patterned, 1
Metamorphopsia, Choroidal neovascularization, Nyctalopia, Absent foveal reflex, Reduced visual ac... OMIM:169150
Retinitis Pigmentosa 73
Macular crystals, Optic disc pallor, Bone spicule pigmentation of the retina, Retinal atrophy, Co... OMIM:616544
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
Retinitis Pigmentosa 57
Optic disc pallor, Bone spicule pigmentation of the retina, Absent foveal reflex, Rod-cone dystro... OMIM:613582
Liberfarb Syndrome
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal degeneration, Retinal pigment... OMIM:618889
Cone-Rod Dystrophy 24
Cone/cone-rod dystrophy, Macular drusen, Myopia, Pericentral scotoma, Macular atrophy, Scotoma, N... OMIM:620342
Retinitis Pigmentosa 80
Bone spicule pigmentation of the retina, Blindness, Macular atrophy, Nyctalopia, Progressive visu... OMIM:617781
Retinitis Pigmentosa Inversa With Deafness
Blindness, Rod-cone dystrophy, Retinitis pigmentosa inversa OMIM:268010
Retinitis Pigmentosa 33
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, R... OMIM:610359
Leber Hereditary Optic Neuropathy, Autosomal Recessive 1
Retinal telangiectasia, Retinal nerve fiber edema, Central scotoma, Central retinal vessel vascul... OMIM:619382
Retinitis Pigmentosa 62
Optic disc pallor, Bone spicule pigmentation of the retina, Bull's eye maculopathy, Nyctalopia, R... OMIM:614181
Macular Degeneration, Age-Related, 13
Drusen, Macular degeneration, Choroidal neovascularization, Macular scar OMIM:615439
Spastic Tetraplegia-Retinitis Pigmentosa-Intellectual Disability Syndrome
Severely reduced visual acuity, Rod-cone dystrophy ORPHA:3011
Retinitis Pigmentosa 4
Bone spicule pigmentation of the retina, Retinal atrophy, Blindness, Nyctalopia, Reduced visual a... OMIM:613731
Sorsby Fundus Dystrophy
Macular dystrophy, Blindness, Chorioretinal atrophy OMIM:136900
Retinitis Pigmentosa 48
Macular degeneration, Rod-cone dystrophy OMIM:613827
Macular Degeneration, Early-Onset
Macular degeneration, Choroidal neovascularization, Reduced visual acuity OMIM:616118
Retinitis Pigmentosa 35
Blindness, Rod-cone dystrophy, Reduced visual acuity, Nyctalopia OMIM:610282
Senior-Loken Syndrome 6
Rod-cone dystrophy, Reduced visual acuity, Visual impairment OMIM:610189
Retinitis Pigmentosa 96
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal thinning OMIM:620228
Doyne Honeycomb Retinal Dystrophy
Reticular pigmentary degeneration, Retinal dystrophy OMIM:126600
Progressive Cone Dystrophy
Abnormality of retinal pigmentation ORPHA:1871
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1574
Macular Dystrophy, Vitelliform, 1
Reduced visual acuity, Visual field defect, Vitelliform-like macular lesions, Macular dystrophy, ... OMIM:153840
Cone-Rod Dystrophy 7
Cone/cone-rod dystrophy, Bull's eye maculopathy, Macular atrophy, Visual impairment, Color vision... OMIM:603649
Cone-Rod Dystrophy 5
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling, Macular degeneration OMIM:600977
Bothnia Retinal Dystrophy
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Large central visual... ORPHA:85128
Retinitis Pigmentosa 81
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, A... OMIM:617871
Retinitis Pigmentosa 68
Bone spicule pigmentation of the retina, Retinal atrophy, Nyctalopia, Reduced visual acuity, Visu... OMIM:615725
Ataxia-Tapetoretinal Degeneration Syndrome
Pigmentary retinopathy, Rod-cone dystrophy ORPHA:1178
Retinitis Pigmentosa 76
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Retinal thinnin... OMIM:617123
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegeneration, R... OMIM:610951
Retinitis Pigmentosa 95
Optic disc pallor, Bone spicule pigmentation of the retina, Perifoveal ring of hyperautofluoresce... OMIM:620102
Stargardt Disease 4
Macular degeneration, Retinal flecks, Reduced visual acuity OMIM:603786
Macular Dystrophy, Vitelliform, 4
Drusen, Macular dystrophy, Vitelliform-like macular lesions, Moderately reduced visual acuity OMIM:616151
Cone-Rod Dystrophy, X-Linked, 1
Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling, Nyctalopia, Redu... OMIM:304020
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinitis Pigmentosa 54
Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin... OMIM:613428
Retinitis Pigmentosa 70
Optic disc pallor, Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Ma... OMIM:615922
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy
Macular dystrophy, Blindness, Reduced visual acuity OMIM:601553
Retinitis Pigmentosa 78
Optic disc pallor, Photopsia, Nyctalopia, Reduced visual acuity, Visual field defect, Cystoid mac... OMIM:617433
Retinitis Pigmentosa 32
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Photoreceptor... OMIM:609913
Newfoundland Rod-Cone Dystrophy
Retinal dystrophy, Scotoma, Nyctalopia, Visual impairment, Color vision defect OMIM:607476
Retinitis Pigmentosa 61
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:614180
Macular Dystrophy, Vitelliform, 3
Metamorphopsia, Choroidal neovascularization, Macular atrophy, Drusen, Reduced visual acuity, Pho... OMIM:608161
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:2246
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Retinitis Pigmentosa 63
Optic disc pallor, Nyctalopia, Rod-cone dystrophy, Blurred vision OMIM:614494
Retinitis Pigmentosa 40
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels OMIM:613801
Retinitis Pigmentosa 87 With Choroidal Involvement
Pigmentary retinopathy, Bone spicule pigmentation of the retina, Chorioretinal atrophy, Nummular ... OMIM:618697
Progressive Bifocal Chorioretinal Atrophy
Pigmentary retinopathy, Chorioretinal dystrophy, Macular atrophy ORPHA:75373
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Pigmentary retinopathy OMIM:609016
Retinitis Pigmentosa 20
Nyctalopia, Severely reduced visual acuity, Rod-cone dystrophy, Visual impairment, Attenuation of... OMIM:613794
Pigmented Paravenous Chorioretinal Atrophy
Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy, Vitreoretinopathy OMIM:172870
Blue Cone Monochromatism
Abnormality of retinal pigmentation ORPHA:16
Macular Degeneration, Atrophic, X-Linked
Macular degeneration, Reduced visual acuity OMIM:300834
Retinitis Pigmentosa 90
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Constriction of peri... OMIM:619007
Cone-Rod Dystrophy 12
Cone/cone-rod dystrophy, Bull's eye maculopathy, Central scotoma, Nyctalopia, Reduced visual acui... OMIM:612657
Cone-Rod Dystrophy 15
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Nyctalopia, Photopho... OMIM:613660
Retinitis Pigmentosa 38
Optic disc pallor, Constriction of peripheral visual field, Peripheral retinal atrophy, Macular a... OMIM:613862
Retinitis Pigmentosa 19
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:601718
Retinitis Pigmentosa 18
Scotoma, Nyctalopia, Progressive visual field defects, Retinal arteriolar constriction, Rod-cone ... OMIM:601414
Retinitis Pigmentosa 28
Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:606068
Retinitis Pigmentosa 71
Optic disc pallor, Nyctalopia, Optic disc drusen, Perifoveal ring of hyperautofluorescence, Rod-c... OMIM:616394
Optic Atrophy 13 With Retinal And Foveal Abnormalities
Optic atrophy, Reduced visual acuity, Attenuation of retinal blood vessels OMIM:165510
Leber Congenital Amaurosis 4
Cone/cone-rod dystrophy, Optic disc pallor, Blindness, Macular atrophy, Nyctalopia, Reduced visua... OMIM:604393
Retinitis Pigmentosa 17
Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:600852
Cone-Rod Dystrophy 16
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Beaten bronz... OMIM:614500
Macular Dystrophy, Retinal, 4
Reduced OCT-measured foveal thickness, Nyctalopia, Choroidal neovascularization, Reduced visual a... OMIM:619977
Retinitis Pigmentosa 7
Constriction of peripheral visual field, Nyctalopia, Adult-onset night blindness, Chorioretinal a... OMIM:608133
Cone-Rod Dystrophy 21
Retinal dystrophy, Macular atrophy, Nyctalopia, Reduced visual acuity, Photophobia OMIM:616502
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
Optic disc pallor, Retinal dystrophy, Central scotoma, Nyctalopia, Reduced visual acuity, Photoph... OMIM:616079
Choroideremia
Abnormality of retinal pigmentation, Myopia, Nyctalopia, Abnormality of vision, Progressive visua... ORPHA:180
Retinal Capillary Malformation
Myopia, Blindness, Subretinal exudate, Central fundal arteriolar microaneurysms, Photopsia, Vitre... ORPHA:71213
Retinitis Pigmentosa 1
Optic disc pallor, Bone spicule pigmentation of the retina, Myopia, Constriction of peripheral vi... OMIM:180100
Cone-Rod Dystrophy 22
Retinal pigment epithelial atrophy, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ... OMIM:619531
Cone Rod Dystrophy
Abnormality of retinal pigmentation ORPHA:1872
Retinitis Pigmentosa 85
Progressive night blindness, Rod-cone dystrophy, Reduced visual acuity OMIM:618345
Leber Congenital Amaurosis With Early-Onset Deafness
Retinal pigment epithelial mottling, Peripapillary atrophy, Retinal degeneration OMIM:617879
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Retinitis Pigmentosa 50
Retinal detachment, Optic disc pallor, Nyctalopia, Reduced visual acuity, Retinal flecks, Rod-con... OMIM:613194
Retinitis Pigmentosa 79
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:617460
Retinitis Pigmentosa 69
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Pigmentary retinopath... OMIM:615780
Retinitis Pigmentosa 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular atrophy, Macular edema OMIM:180104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Retinal dysplasia OMIM:615041
Retinopathy, Pericentral Pigmentary, Autosomal Recessive
Pigmentary retinopathy OMIM:268060
Neuropathy, Ataxia, And Retinitis Pigmentosa
Retinal pigment epithelial mottling, Rod-cone dystrophy, Retinopathy, Corticospinal tract atrophy OMIM:551500
Cone Dystrophy 3
Cone/cone-rod dystrophy, Macular atrophy, Reduced visual acuity, Photophobia, Progressive visual ... OMIM:602093
Cone-Rod Dystrophy 2
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Retinal pigment epithelial atro... OMIM:120970
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Best Vitelliform Macular Dystrophy
Metamorphopsia, Visual field defect, Cystoid macular degeneration, Choroideremia, Visual impairme... ORPHA:1243
Cone-Rod Dystrophy 13
Cone/cone-rod dystrophy, Reduced visual acuity, Photophobia, Macular degeneration, Visual impairm... OMIM:608194
Retinitis Pigmentosa 3
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Ring scotoma, N... OMIM:300029
Optic Atrophy 5
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Abnormality of patte... OMIM:610708
Mental Retardation With Optic Atrophy, Deafness, And Seizures
Blindness, Optic atrophy, Severely reduced visual acuity OMIM:309555
Retinitis Pigmentosa 84
Bone spicule pigmentation of the retina, Macular atrophy, Macular coloboma, Rod-cone dystrophy, A... OMIM:618220
Retinitis Pigmentosa 2
Pericentral scotoma, Myopia, Constriction of peripheral visual field, Ring scotoma, Bull's eye ma... OMIM:312600
Retinitis Pigmentosa 92
Constriction of peripheral visual field, Nyctalopia, Paracentral scotoma, Pigmentary retinopathy,... OMIM:619614
Bothnia Retinal Dystrophy
Macular degeneration, Nyctalopia, Retinal dystrophy OMIM:607475
Retinitis Pigmentosa 88
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular... OMIM:618826
Cavitary Optic Disc Anomalies
Nyctalopia, Peripapillary atrophy, Reduced visual acuity, Visual field defect OMIM:611543
Leber Congenital Amaurosis 2
Optic disc pallor, Blindness, Fundus atrophy, Nyctalopia, Absent foveal reflex, Reduced visual ac... OMIM:204100
Retinitis Pigmentosa
Constriction of peripheral visual field, Rod-cone dystrophy, Abnormality of fundus pigmentation, ... OMIM:268000
Achromatopsia 7
Hypoplasia of the fovea, Macular atrophy, Central scotoma, Absent foveal reflex, Reduced visual a... OMIM:616517
Retinitis Pigmentosa 6
Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration OMIM:312612
Prolonged Electroretinal Response Suppression 2
Mildly reduced visual acuity, Difficulty adjusting to changes in luminance, Reduced visual acuity... OMIM:620344
Temporal Arteritis
Blindness, Retinal arteritis OMIM:187360
Usher Syndrome, Type Iiia
Nyctalopia, Rod-cone dystrophy, Reduced visual acuity, Visual field defect OMIM:276902
Usher Syndrome, Type Iv
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:618144
Fleck Retina, Familial Benign
Nyctalopia, Retinal flecks, Visual impairment OMIM:228980
Exudative Vitreoretinopathy 5
Reduced visual acuity, Exudative vitreoretinopathy, Falciform retinal fold, Visual impairment, Re... OMIM:613310
Tritanopia
Abnormal retinal morphology, Reduced visual acuity, Color vision test abnormality, Photophobia, T... ORPHA:88629
Fundus Albipunctatus
Nyctalopia, Retinal flecks, Fundus albipunctatus OMIM:136880
Macular Dystrophy With Central Cone Involvement
Optic disc pallor, Bull's eye maculopathy, Central scotoma, Red-green dyschromatopsia, Reduced vi... OMIM:616170
Spinocerebellar Ataxia, Autosomal Recessive 29
Cerebellar atrophy, Optic disc pallor, Corpus callosum atrophy, Retinal pigment epithelial mottli... OMIM:619389
Retinal Cone Dystrophy 4
Cone/cone-rod dystrophy, Retinal pigment epithelial mottling OMIM:610478
Microphthalmia, Isolated 5
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:611040
Congenital Stationary Night Blindness
Abnormality of retinal pigmentation, Myopia, Retinal thinning, Nyctalopia, Reduced visual acuity,... ORPHA:215
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Optic Atrophy 12
Optic disc pallor, Optic atrophy, Reduced visual acuity, Photophobia, Dyschromatopsia, Abnormal I... OMIM:618977
Usher Syndrome, Type Iid
Nyctalopia, Rod-cone dystrophy OMIM:611383
Leber Congenital Amaurosis 9
Optic disc pallor, Bone spicule pigmentation of the retina, Macular coloboma, Macular scar, Macul... OMIM:608553
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Retinal dystrophy, Ch... OMIM:251270
Familial Exudative Vitreoretinopathy
Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Rhegmatogenous reti... ORPHA:891
Cone Dystrophy 4
Cone/cone-rod dystrophy, Reduced visual acuity, Absent foveal reflex, Photophobia, Dyschromatopsi... OMIM:613093
Central Retinal Vein Occlusion
Papilledema, Large central visual field defect, Epiretinal membrane, Visual loss, Intraretinal he... ORPHA:411527
Achromatopsia
Hypoplasia of the fovea, Myopia, Retinal pigment epithelial atrophy, Retinal pigment epithelial m... ORPHA:49382
Retinal Cone Dystrophy 3B
Cone/cone-rod dystrophy, Myopia, Scotoma, Macular atrophy, Nyctalopia, Reduced visual acuity, Pho... OMIM:610356
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Exudative Vitreoretinopathy 4
Blindness, Peripheral retinal avascularization, Reduced visual acuity, Posterior vitreous detachm... OMIM:601813
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Reduced visual acuity, Chorioretinal dysplasia, Visual impairment OMIM:616335
Optic Atrophy 1
Central scotoma, Red-green dyschromatopsia, Optic atrophy, Reduced visual acuity, Abnormal amplit... OMIM:165500
Exudative Vitreoretinopathy 1
Retinal detachment, Blindness, Peripheral retinal avascularization, Vitreous floaters, Reduced vi... OMIM:133780
Vitreoretinopathy, Neovascular Inflammatory
Peripheral retinal neovascularization, Retinal detachment, Blindness, Large hyperpigmented retina... OMIM:193235
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Optic atrophy, Reduced visual acuity, Color vision defect OMIM:618511
Optic Atrophy 3, Autosomal Dominant
Reduced visual acuity, Optic disc pallor, Optic atrophy, Scotoma OMIM:165300
Leber Congenital Amaurosis 16
Optic disc pallor, Nyctalopia, Reduced visual acuity, Visual field defect, Photophobia, Visual im... OMIM:614186
Ceroid Lipofuscinosis, Neuronal, 3
Blindness, Optic atrophy, Reduced visual acuity, Concentric hypertrophic cardiomyopathy, Macular ... OMIM:204200
Bestrophinopathy, Autosomal Recessive
Hypermetropia, Retinal pigment epithelial atrophy, Reduced visual acuity, Retinal flecks OMIM:611809
Retinitis Pigmentosa 31
Rod-cone dystrophy, Retinal pigment epithelial atrophy, Attenuation of retinal blood vessels OMIM:609923
Leber Congenital Amaurosis 14
Optic disc pallor, Retinal dystrophy, Nyctalopia, Reduced visual acuity, Photophobia, Congenital ... OMIM:613341
Blue Cone Monochromacy
Blue cone monochromacy, Myopia, Reduced visual acuity, Photophobia, Abnormality of macular pigmen... OMIM:303700
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Constriction of peripheral visual field, Macular atrophy, Nyctalopia, Hypermetropia, Cystoid macu... OMIM:267760
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Pigmentary retinopathy, Cerebral atrophy OMIM:619090
Morning Glory Disc Anomaly
Retinal detachment, Optic disc coloboma, Abnormality of retinal pigmentation ORPHA:35737
Cone-Rod Dystrophy 20
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Constriction... OMIM:615973
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy OMIM:617613
Leber Congenital Amaurosis 19
Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels OMIM:618513
Retinitis Pigmentosa 12
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Hi... OMIM:600105
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Retinal dystrophy, Peripheral retinal atrophy, Nyctalopia, Absent foveal reflex, Reduced visual a... OMIM:615147
Retinitis Pigmentosa 86
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N... OMIM:618613
Retinal Dystrophy And Obesity
Retinal detachment, Myopia, Retinal pigment epithelial atrophy, Retinal dystrophy, Reduced visual... OMIM:616188
Cone-Rod Dystrophy, X-Linked, 3
Cone/cone-rod dystrophy, Retinal detachment, Optic disc pallor, Myopia, Central scotoma, Absent f... OMIM:300476
Retinitis Pigmentosa 77
Bone spicule pigmentation of the retina, Retinal atrophy, Constriction of peripheral visual field... OMIM:617304
Cone-Rod Dystrophy 18
Cone/cone-rod dystrophy, Central scotoma, Reduced visual acuity, High myopia, Foveal hyperpigment... OMIM:615374
Eales Disease
Peripheral retinal neovascularization, Optic disc pallor, Rhegmatogenous retinal detachment, Reti... ORPHA:40923
Irvan Syndrome
Retinal detachment, Vitreous floaters, Optic atrophy, Reduced visual acuity, Macular edema, Photo... ORPHA:209943
Night Blindness, Congenital Stationary, Type 1F
Retinal perforation, Nyctalopia, Reduced visual acuity, High myopia, Congenital stationary night ... OMIM:615058
Retinitis Pigmentosa 49
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, Pe... OMIM:613756
Retinitis Pigmentosa 83
Bone spicule pigmentation of the retina, Constriction of peripheral visual field, Vitreous floate... OMIM:618173
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Abnormality of retinal pigmentation, Facial palsy ORPHA:2743
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction
Retinal pigment epithelial mottling, Central retinal vessel vascular tortuosity, Hyporeflective s... ORPHA:506353
Bornholm Eye Disease
Abnormality of retinal pigmentation, Optic nerve hypoplasia OMIM:300843
Leber Congenital Amaurosis 1
Blindness, Fundus atrophy, Nyctalopia, Reduced visual acuity, Optic disc drusen, Photophobia, Pig... OMIM:204000
Hyperleucine-Isoleucinemia
Retinal degeneration OMIM:238340
Retinitis Pigmentosa 46
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy, Attenuation of retinal blood vessels OMIM:612572
Retinal Cone Dystrophy 3A
Cone dystrophy, Nyctalopia, Reduced visual acuity, High myopia, Photophobia, Dyschromatopsia OMIM:610024
Leber Congenital Amaurosis 8
Macular coloboma, Chorioretinal atrophy, Nummular pigmentation of the fundus, Pigmentary retinopa... OMIM:613835
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Wolfram-Like Syndrome, Autosomal Dominant
Optic disc pallor, Blind-spot enlargment, Optic atrophy, Reduced visual acuity, Severely reduced ... OMIM:614296
Retinal Cone Dystrophy 1
Cone/cone-rod dystrophy, Bull's eye maculopathy, Photophobia, Progressive visual loss, Retinal de... OMIM:180020
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, R... OMIM:616108
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Nyctalopia, Foveoschisis, Chorioretinal atrophy, Macular thickening, Visual im... OMIM:258870
Retinitis Pigmentosa 58
Optic disc pallor, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field l... OMIM:613617
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa
Absent retinal pigment epithelium, Nyctalopia, Abnormal fundus morphology, Abnormal optic nerve m... ORPHA:436274
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Retinitis Pigmentosa 66
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:615233
Cone-Rod Dystrophy 3
Cone/cone-rod dystrophy, Optic disc pallor, Bull's eye maculopathy, Pigmentary retinopathy, Atten... OMIM:604116
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Myopia, Retinal atrophy, Retinal thinning, Blin... OMIM:617406
Usher Syndrome, Type 1M
Drusen, Optic disc pallor, Nyctalopia OMIM:618632
Cone-Rod Dystrophy 8
Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Blindness, Nyctalopia, Peripheral v... OMIM:605549
Retinitis Pigmentosa 10
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:180105
Canavan Disease
Abnormality of retinal pigmentation, Blindness, Optic atrophy, Abnormality of visual evoked poten... ORPHA:141
Retinitis Pigmentosa 60
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, C... OMIM:613983
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... OMIM:603075
Retinitis Pigmentosa 41
Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Pigmentary reti... OMIM:612095
Birdshot Chorioretinopathy
Arcuate scotoma, Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroi... ORPHA:179
Retinitis Pigmentosa 51
Bone spicule pigmentation of the retina, Nyctalopia, Reduced visual acuity, High myopia, Photopho... OMIM:613464
Optic Atrophy 8
Abnormal auditory evoked potentials, Visual loss, Central scotoma, Abnormality of pattern visual ... OMIM:616648
Ceroid Lipofuscinosis, Neuronal, 6A
Retinal degeneration OMIM:601780
Aplasia Cutis-Myopia Syndrome
Abnormality of retinal pigmentation ORPHA:1117
Chorioretinal Atrophy, Progressive Bifocal
Retinal detachment, Chorioretinal dystrophy, Myopia, Chorioretinal atrophy, Visual impairment OMIM:600790
Peripheral Cone Dystrophy
Cone/cone-rod dystrophy, Optic disc pallor, Pericentral scotoma, Peripheral retinal degeneration,... OMIM:609021
Microcephaly-Cardiomyopathy Syndrome
Abnormality of retinal pigmentation ORPHA:2515
Retinitis Pigmentosa 93
Rod-cone dystrophy, Constriction of peripheral visual field, Retinal dots, Reduced visual acuity OMIM:619845
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Exudative retinal detachment, Retinal arterial macroaneurysms OMIM:614224
Cone-Rod Dystrophy 6
Cone/cone-rod dystrophy, Bone spicule pigmentation of the retina, Macular atrophy, Nyctalopia, Ch... OMIM:601777
Jalili Syndrome
Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Macular atro... OMIM:217080
Vitreoretinochoroidopathy
Retinal detachment, Blindness, Nyctalopia, Retinal arteriolar occlusion, Vitreous hemorrhage, Pig... OMIM:193220
Diprosopus
Abnormality of retinal pigmentation ORPHA:1681
Retinitis Pigmentosa 72
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:616469
Retinitis Pigmentosa 45
Macular degeneration, Bone spicule pigmentation of the retina, Rod-cone dystrophy OMIM:613767
Oliver-Mcfarlane Syndrome
Pigmentary retinopathy, Central heterochromia, Retinal degeneration OMIM:275400
Chromosome Xq21 Deletion Syndrome
Constriction of peripheral visual field, Chorioretinal degeneration, Nyctalopia, Chorioretinal at... OMIM:303110
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Blindness, Optic atrophy ORPHA:2787
Glutathione Synthetase Deficiency
Pigmentary retinopathy OMIM:266130
Nystagmus 2, Congenital, Autosomal Dominant
Mildly reduced visual acuity, Reduced visual acuity, Visual impairment OMIM:164100
Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement
Abnormality of retinal pigmentation, Macular coloboma, Chorioretinal coloboma ORPHA:2196
Night Blindness, Congenital Stationary, Type 1G
Optic disc pallor, Constriction of peripheral visual field, Congenital stationary night blindness... OMIM:616389
Cone-Rod Dystrophy 10
Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Photophobia, M... OMIM:610283
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Retinal degeneration OMIM:251700
Optic Atrophy 7 With Or Without Auditory Neuropathy
Optic disc pallor, Constriction of peripheral visual field, Central scotoma, Optic atrophy, Reduc... OMIM:612989
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Optic disc pallor, Blind-spot enlargment, Central scotoma, Reduced visual acuity, Photophobia, Co... OMIM:616732
Ceroid Lipofuscinosis, Neuronal, 1
Blindness, Optic atrophy, Macular degeneration, Progressive visual loss, Retinal degeneration OMIM:256730
Adult-Onset Foveomacular Vitelliform Dystrophy
Visual field defect, Retinal nonattachment, Abnormality of vision, Vitelliform-like macular lesio... ORPHA:99000
Nephronophthisis 15
Blindness, Retinal degeneration OMIM:614845
Morm Syndrome
Retinal atrophy, Retinal dystrophy, Photophobia, Progressive night blindness, Visual impairment ORPHA:75858
Cone-Rod Dystrophy 11
Cone/cone-rod dystrophy, Macular degeneration, Bull's eye maculopathy, Macular atrophy OMIM:610381
Nanophthalmos 4
Hypermetropia, Reduced visual acuity, Optic disc drusen OMIM:615972
Eem Syndrome
Macular dystrophy, Abnormality of retinal pigmentation, Retinopathy ORPHA:1897
Gyrate Atrophy Of Choroid And Retina
Myopia, Blindness, Constriction of peripheral visual field, Chorioretinal degeneration, Chorioret... ORPHA:414
Kearns-Sayre Syndrome
Abnormality of retinal pigmentation ORPHA:480
Retinitis Punctata Albescens
Retinal atrophy, Macular atrophy, Retinal pigment epithelial mottling, Central scotoma, Nyctalopi... ORPHA:52427
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Hypoplasia of the ulna, Short femur, Absent thumb, Cryptorchidism, Fibular hypoplasia, Aplasia/Hy... OMIM:612447
Retinitis Pigmentosa 25
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:602772
Retinitis Pigmentosa 43
Optic disc pallor, Bone spicule pigmentation of the retina, Pigmentary retinopathy, Rod-cone dyst... OMIM:613810
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium
Blindness, Reduced visual acuity, Abnormal optic disc morphology, Vitreoretinopathy, Retinal vasc... ORPHA:440727
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome
Nyctalopia, Retinal dystrophy, Reduced visual acuity OMIM:610156
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
Cone-Rod Dystrophy 19
Cone/cone-rod dystrophy, Perifoveal ring of hyperautofluorescence, Reduced visual acuity, High my... OMIM:615860
Retinitis Pigmentosa 14
Optic disc pallor, Bone spicule pigmentation of the retina, Constriction of peripheral visual fie... OMIM:600132
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome
Abnormality of retinal pigmentation, Cerebral atrophy ORPHA:397951
Hypotaurinemic Retinal Degeneration And Cardiomyopathy
Retinal thinning, Peripheral retinal atrophy, Macular atrophy, Retinal pigment epithelial mottlin... OMIM:145350
Late-Onset Retinal Degeneration
Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drusen, Patchy atr... ORPHA:67042
Retinitis Pigmentosa 37
Constriction of peripheral visual field, Red-green dyschromatopsia, Nyctalopia, Reduced visual ac... OMIM:611131
Retinitis Pigmentosa 56
Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P... OMIM:613581
Sandhoff Disease
Cherry red spot of the macula, Blindness, Congestive heart failure ORPHA:796
Åland Islands Eye Disease
Hypoplasia of the fovea, Myopia, Difficulty adjusting from light to dark, Reduced visual acuity, ... ORPHA:178333
Iris Pigment Layer, Cleavage Of
Peripheral retinal detachment OMIM:147610
Acute Zonal Occult Outer Retinopathy
Blind-spot enlargment, Vitritis, Myopia, Retinal pigment epithelial mottling, Hemianopia, Rod-con... ORPHA:284454
Heimler Syndrome 1
Macular dystrophy, Retinal pigment epithelial mottling OMIM:234580
Jalili Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1873
Diabetes And Deafness, Maternally Inherited
Pigmentary retinopathy, Retinal degeneration OMIM:520000
Congenital Glaucoma
Retinal detachment ORPHA:98976
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Red-green dyschromatopsia, Central scotoma, Optic atrophy, R... OMIM:125250
Senior-Loken Syndrome
Abnormality of retinal pigmentation, Retinal dystrophy ORPHA:3156
Fibular Hemimelia
Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of ankles, Foot ol... ORPHA:93323
Spinocerebellar Ataxia 7
Macular degeneration, Optic atrophy, Pigmentary retinopathy OMIM:164500
Laurence-Moon Syndrome
Pigmentary retinopathy, Chorioretinal atrophy OMIM:245800
Bardet-Biedl Syndrome 3
Tricuspid regurgitation, Nyctalopia, Pigmentary retinopathy, Rod-cone dystrophy, Visual impairment OMIM:600151
Leber Congenital Amaurosis
Abnormality of retinal pigmentation, Abnormal optic disc morphology ORPHA:65
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Aplasia/Hypoplasia of the patella, Postaxial ... OMIM:200700
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Cone-Rod Synaptic Disorder Syndrome, Congenital Nonprogressive
Photophobia, Optic disc pallor, Retinal thinning, Reduced visual acuity OMIM:618970
Joubert Syndrome 28
Optic disc pallor, Pigmentary retinopathy OMIM:617121
Syndactyly Type 4
1-5 finger syndactyly, Toe syndactyly, Camptodactyly of finger, 6 metacarpals, Hand polydactyly, ... ORPHA:93405
Narp Syndrome
Optic disc pallor, Abnormal visual field test, Blindness, Constriction of peripheral visual field... ORPHA:644
Oculocutaneous Albinism Type 6
Reduced visual acuity, Abnormal fundus morphology, Abnormal foveal morphology on macular OCT, Pho... ORPHA:370097
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome
Pigmentary retinopathy, Retinal degeneration ORPHA:3363
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Photophobia, Reduced visual acuity, Visual impairment OMIM:113750
Acromesomelic Dysplasia 2C
Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Cuboida... OMIM:201250
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Retinal detachment, Congenital blindness ORPHA:436182
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Abnormality of retinal pigmentation ORPHA:1259
Tricho-Retino-Dento-Digital Syndrome
Abnormality of retinal pigmentation ORPHA:1264
Retinitis Pigmentosa 75
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Peripheral visual field loss, Rod-co... OMIM:617023
Myopia, High, With Cataract And Vitreoretinal Degeneration
Retinal detachment, Mildly reduced visual acuity, Vitreous floaters, Lattice retinal degeneration... OMIM:614292
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Wolff-Parkinson-White syndrome, Blindness, Visual loss, Optic atrophy, Undetectable visual evoked... OMIM:601338
Chromosome 16Q12 Duplication Syndrome
Retinal pigment epithelial mottling, Nyctalopia, Reduced visual acuity, High myopia, Photophobia,... OMIM:619649
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
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:1466
Bardet-Biedl Syndrome 4
Nyctalopia, Rod-cone dystrophy, Retinal degeneration OMIM:615982
Night Blindness, Congenital Stationary, Type 1E
Congenital stationary night blindness, Reduced visual acuity, Visual impairment, High myopia OMIM:614565
Spastic Paraplegia 81, Autosomal Recessive
Retinal vascular tortuosity, Optic atrophy, Reduced visual acuity, Cerebral visual impairment OMIM:618768
Birt-Hogg-Dubé Syndrome
Abnormality of retinal pigmentation ORPHA:122
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Abnormality of retinal pigmentation ORPHA:2521
Osebold-Remondini Syndrome
Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Tarsal synostosis, Type A ... OMIM:112910
Bardet-Biedl Syndrome 5
Macular dystrophy, Rod-cone dystrophy, Reduced visual acuity OMIM:615983
Chondrodysplasia Punctata, Tibia-Metacarpal Type
Micromelia, Epiphyseal stippling, Short long bone, Short 3rd metacarpal, Limb undergrowth, Short ... OMIM:118651
Retinitis Pigmentosa
Abnormality of retinal pigmentation, Blindness, Abnormal retinal vascular morphology, Optic atrop... ORPHA:791
Spastic Paraplegia 82, Autosomal Recessive
Optic atrophy, Reduced visual acuity OMIM:618770
Peroxisomal Acyl-Coa Oxidase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy, Optic atrophy OMIM:264470
Ring Chromosome 14 Syndrome
Pigmentary retinopathy OMIM:616606
Sjögren-Larsson Syndrome
Retinopathy, Macular degeneration, Generalized hyperpigmentation, Abnormality of retinal pigmenta... ORPHA:816
Lethal Faciocardiomelic Dysplasia
Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ... ORPHA:1972
Bietti Crystalline Corneoretinal Dystrophy
Constriction of peripheral visual field, Chorioretinal atrophy, Reduced visual acuity, High myopi... OMIM:210370
Severe Early-Childhood-Onset Retinal Dystrophy
Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, Photophobia, Retinal ... ORPHA:364055
Enhanced S-Cone Syndrome
Pigmentary retinopathy, Retinoschisis, Vitreoretinopathy, Macular edema OMIM:268100
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Central scotoma, Optic atrophy, Reduced v... ORPHA:98890
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Heterochromia iridis ORPHA:1390
Congenital Disorder Of Glycosylation, Type Ig
Retinal detachment, Short humerus, Small scrotum, Hypospadias, Hypoglycemia, Rhizomelia, Short fe... OMIM:607143
Neovascular Glaucoma
Retinal detachment, Abnormal posterior eye segment morphology, Retinal vascular proliferation, Vi... ORPHA:94058
Ataxia With Vitamin E Deficiency
Abnormality of retinal pigmentation, Nyctalopia, Arrhythmia, Abnormality of visual evoked potenti... ORPHA:96
Fundus Dystrophy, Pseudoinflammatory, Recessive Form
Myopia, Peripheral retinal degeneration, Retinal hemorrhage, Central retinal exudate, Progressive... OMIM:264420
Retinitis Pigmentosa 23
Constriction of peripheral visual field, Retinal pigment epithelial atrophy, Mild myopia, Absent ... OMIM:300424
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, Aganglionic megac... ORPHA:897
Leber Congenital Amaurosis 15
Optic disc pallor, Myopia, Constriction of peripheral visual field, Nyctalopia, Reduced visual ac... OMIM:613843
Blindness-Scoliosis-Arachnodactyly Syndrome
Retinal detachment, Abnormality of retinal pigmentation ORPHA:171844
Acromesomelic Dysplasia, Grebe Type
Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Brachydactyly, Tarsal synostosis, Micr... ORPHA:2098
Chromosome Xp11.3 Deletion Syndrome
Moderate myopia, Blindness, Constriction of peripheral visual field, Nyctalopia, Optic atrophy, P... OMIM:300578
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Night Blindness, Congenital Stationary, Type 1B
Myopia, Bone spicule pigmentation of the retina, Nyctalopia, Hemeralopia, Congenital stationary n... OMIM:257270
Retinal Dystrophy With Or Without Macular Staphyloma
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal pigment epithelial mottling, ... OMIM:617547
Idiopathic Panuveitis
Blindness, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal membrane, R... ORPHA:280921
Optic Pathway Glioma
Papilledema, Blindness, Visual loss, Optic atrophy, Reduced visual acuity, Visual field defect ORPHA:2086
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Retinitis Pigmentosa 59
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Rod-cone dystrophy, C... OMIM:613861
Léri-Weill Dyschondrosteosis
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... ORPHA:240
Coloboma Of Macula
Macular coloboma OMIM:120300
Leri-Weill Dyschondrosteosis
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... OMIM:127300
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Optic atrophy, Abnormal retinal nerve fiber layer morphology... ORPHA:1215
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Nyctalopia, Absent foveal reflex, Reduced visual acuit... OMIM:216900
Ethanolaminosis
Cardiomegaly OMIM:227150
Night Blindness, Congenital Stationary, Type 1C
Congenital stationary night blindness, Myopia, Reduced visual acuity OMIM:613216
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Retinal dysplasia OMIM:614830
X-Linked Neurodegenerative Syndrome, Hamel Type
Blindness ORPHA:85336
Endove Syndrome, Limb-Only Type
Short middle phalanx of the 2nd finger, Fibular hypoplasia, Hypoplastic labia majora, Disproporti... OMIM:619217
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia
Rhegmatogenous retinal detachment, Lattice retinal degeneration OMIM:619248
Sarcosinemia
Congenital blindness, Hypertrophic cardiomyopathy, Optic atrophy, Pulmonic stenosis ORPHA:3129
Choroidal Atrophy-Alopecia Syndrome
Abnormality of retinal pigmentation, Patchy atrophy of the retinal pigment epithelium ORPHA:1433
Alpha-Methylacyl-Coa Racemase Deficiency
Pigmentary retinopathy, Rod-cone dystrophy OMIM:614307
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased... ORPHA:93322
Ramon Syndrome
Abnormality of retinal pigmentation ORPHA:3019
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Photophobia, Chorioretinal hypopigmentation, Reduced visual acuity OMIM:619165
Cataract 50 With Or Without Glaucoma
Retinal detachment OMIM:620253
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Hypoplastic iliac wing, Short palm, Short... OMIM:607778
Bardet-Biedl Syndrome 6
Pigmentary retinopathy, Rod-cone dystrophy OMIM:605231
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Retinitis Pigmentosa 89
Constriction of peripheral visual field, Retinal thinning, Nyctalopia, Hyperautofluorescent retin... OMIM:618955
3-Methylglutaconic Aciduria, Type Iii
Optic atrophy, Reduced visual acuity, Visual impairment OMIM:258501
Coats Disease
Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology ORPHA:190
Hypotrichosis With Juvenile Macular Degeneration
Macular degeneration, Blindness, Abnormality of macular pigmentation ORPHA:1573
Stickler Syndrome Type 2
Retinal detachment, Retinopathy, Abnormal vitreous humor morphology ORPHA:90654
Cerebral Sclerosis, Diffuse, Scholz Type
Blindness OMIM:302700
Atypical Pantothenate Kinase-Associated Neurodegeneration
Retinopathy, Blindness, Optic atrophy ORPHA:216873
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Abnormality of retinal pigmentation, Myopia, Abnormal chorioretinal morphology, Visual loss, Nyct... ORPHA:5
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Retinal pigment epithelial mottling, Retinopathy OMIM:219900
Myopia 28, Autosomal Recessive
Retinal detachment OMIM:619781
Juvenile Paget Disease
Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus ORPHA:2801
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Constriction of peripheral visual field, Patchy atrophy of the retinal pigment epithelium, Undete... ORPHA:436245
Exudative Vitreoretinopathy 6
Retinal detachment, Tractional retinal detachment, Myopia, Patchy atrophy of the retinal pigment ... OMIM:616468
Cerebellar Ataxia-Hypogonadism Syndrome
Abnormality of retinal pigmentation, Optic atrophy ORPHA:1173
Methanol Poisoning
Blindness, Myocardial infarction, Cerebral hemorrhage, Permanent atrial fibrillation, Inflammator... ORPHA:31825
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Decreased sensory nerve conduction velocity, Blindness, ... OMIM:609033
Idiopathic Uveal Effusion Syndrome
Metamorphopsia, Reduced visual acuity, Subretinal fluid, Visual field defect, Exudative retinal d... ORPHA:209956
Night Blindness, Congenital Stationary, Type 2A
Congenital stationary night blindness, Reduced visual acuity, Visual impairment OMIM:300071
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... OMIM:620135
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Retinal dysplasia OMIM:615771
Mitochondrial Complex I Deficiency, Nuclear Type 11
Pigmentary retinopathy OMIM:618234
Krabbe Disease
Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, Blindness, Optic at... OMIM:245200
Oculorenocerebellar Syndrome
Retinal degeneration OMIM:257970
Langer Mesomelic Dysplasia
Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Short femoral neck... OMIM:249700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Retinal detachment, Blindness, Myopia, Optic nerve hypoplasia OMIM:615181
Retinitis Pigmentosa 74
Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy OMIM:616562
Microphthalmia, Isolated 6
High hypermetropia, Retinal fold, Amblyopia OMIM:613517
Cln3 Disease
Blindness, Bull's eye maculopathy, Amblyopia, Optic atrophy, Pigmentary retinopathy, T-wave inver... ORPHA:228346
Osteoporosis-Pseudoglioma Syndrome
Retinal detachment, Moderately reduced visual acuity, Visual acuity light perception with project... ORPHA:2788
Severe Canavan Disease
Blindness, Optic atrophy ORPHA:314911
Corpus Callosum Agenesis-Neuronopathy Syndrome
Abnormality of retinal pigmentation ORPHA:1496
Peroxisome Biogenesis Disorder 9B
Constriction of peripheral visual field, Nyctalopia, Reduced visual acuity, Cardiomyopathy, Rod-c... OMIM:614879
Foveal Hypoplasia 2
Hypoplasia of the fovea, Reduced visual acuity, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Infantile Refsum Disease
Constriction of peripheral visual field, Facial palsy, Nyctalopia, Optic atrophy, Cardiomyopathy,... ORPHA:772
Mucous Membrane Pemphigoid
Blindness ORPHA:46486
Congenital Toxoplasmosis
Abnormality of retinal pigmentation ORPHA:858
Night Blindness, Congenital Stationary, Type1I
Tritanomaly, Nyctalopia OMIM:618555
Neonatal Adrenoleukodystrophy
Abnormality of retinal pigmentation, Optic atrophy ORPHA:44
Aland Island Eye Disease
Hypoplasia of the fovea, Myopia, Severely reduced visual acuity OMIM:300600
Migraine, Familial Hemiplegic, 3
Photophobia, Blindness OMIM:609634
Leber Congenital Amaurosis 6
Photophobia, High hypermetropia, Severely reduced visual acuity, Attenuation of retinal blood ves... OMIM:613826
Night Blindness, Congenital Stationary, Type 1H
Hypermetropia, Photophobia, Nyctalopia, Mild myopia OMIM:617024
Oculopharyngodistal Myopathy 3
Pigmentary retinopathy OMIM:619473
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Pigmentary retinopathy, Brain atrophy OMIM:619059
Sjogren-Larsson Syndrome
Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Reduced visual acuity, Ph... OMIM:270200
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Abnormal auditory evoked potentials OMIM:617523
Congenital Muscular Dystrophy With Intellectual Disability
Pigmentary retinopathy, Cerebral cortical atrophy, Facial palsy ORPHA:370968
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, Amblyopia, Reduced visual acuity, Depigmented fundus, Photophobia, Abnor... ORPHA:352731
Behr Syndrome
Blindness, Optic atrophy, Hypoplastic optic chiasm, Progressive visual loss, Visual impairment OMIM:210000
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism
Cerebellar atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Cerebral atrophy OMIM:268020
Slc35A2-Cdg
Camptodactyly of finger, Coxa valga, Precocious puberty, Metatarsus adductus, Elevated circulatin... ORPHA:356961
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Cerebellar atrophy, Abnormality of retinal pigmentation ORPHA:3085
Juvenile Neuronal Ceroid Lipofuscinosis
Optic disc pallor, Large central visual field defect, Blindness, Tachycardia, Visual loss, Pigmen... ORPHA:79264
Leber Congenital Amaurosis 3
Visual loss, Nyctalopia, Constriction of peripheral visual field OMIM:604232
Bardet-Biedl Syndrome 16
Rod-cone dystrophy, Reduced visual acuity, Retinal degeneration OMIM:615993
Acheiropody
Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t... OMIM:200500
Jeune Syndrome
Abnormality of retinal pigmentation ORPHA:474
Microphthalmia With Limb Anomalies
Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of... ORPHA:1106
Wolfram Syndrome 1
Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg... OMIM:222300
Corneal Dystrophy, Gelatinous Drop-Like
Photophobia, Reduced visual acuity, Visual impairment, Blurred vision OMIM:204870
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Optic atrophy ORPHA:2971
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1
Rod-cone dystrophy, Reduced visual acuity OMIM:619082
Autosomal Recessive Spastic Paraplegia Type 15
Pigmentary retinopathy, Retinal flecks, Yellow/white lesions of the retina ORPHA:100996
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail... OMIM:264800
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Retinal dysplasia ORPHA:324416
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of retinal pigmentation, Optic atrophy, Cerebral cortical atrophy ORPHA:2518
Desmoid Tumor
Abnormality of retinal pigmentation ORPHA:873
Wolfram Syndrome, Mitochondrial Form
Blindness, Optic atrophy, Abnormal autonomic nervous system physiology OMIM:598500
Femoral-Facial Syndrome
Short femur, Maternal diabetes, Micrognathia, Cryptorchidism, Long penis, Coxa vara, Abnormal fib... ORPHA:1988
Immunodeficiency 103, Susceptibility To Fungal Infections
Abnormal B cell count, Hypereosinophilia, Lymphadenopathy, Abnormal proportion of CD8-positive T ... OMIM:212050
Usher Syndrome
Abnormality of retinal pigmentation, Blindness, Myopia, Nyctalopia, Abnormal cardiovascular syste... ORPHA:886
Friedreich Ataxia
Abnormal EKG, Congestive heart failure, Optic atrophy, Reduced visual acuity, Visual field defect... OMIM:229300
Bardet-Biedl Syndrome 9
Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615986
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Leukodystrophy, Hypomyelinating, 14
Blindness OMIM:617899
Nephronophthisis 14
Retinal degeneration OMIM:614844
Hemochromatosis, Type 1
Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Azoos... OMIM:235200
Neurodegeneration With Brain Iron Accumulation 2A
Decreased nerve conduction velocity, Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Pigmentary retinopathy ORPHA:329336
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Pigmentary retinopathy, Optic atrophy OMIM:252011
Orofaciodigital Syndrome Type 10
Radial deviation of the hand, Duplication of thumb phalanx, Tarsal synostosis, Micrognathia, Shor... ORPHA:2756
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Abnormality of visua... OMIM:601152
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia OMIM:246570