Gene: Rpgr MGI:1344037

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

retinitis pigmentosa GTPase regulator

Synonyms:

Rp3h, Rd9

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

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.

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Rpgr 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.

Human diseases associated with Rpgr (8 diseases)
Human diseases predicted to be associated with Rpgr (648 diseases)

The table below shows human diseases associated to Rpgr by orthology or direct annotation.

Disease	Matching phenotypes	Source
Macular Degeneration, X-Linked Atrophic	Macular degeneration	OMIM:300834
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,...	ORPHA:49382
Retinitis Pigmentosa 3	Rod-cone dystrophy	OMIM:300029
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness	Rod-cone dystrophy	OMIM:300455
Primary Ciliary Dyskinesia	Rod-cone dystrophy	ORPHA:244

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

Disease	Matching phenotypes	Source
Retinitis Pigmentosa, Late-Adult Onset	Rod-cone dystrophy	OMIM:268025
Leber Congenital Amaurosis 13	Retinal dystrophy	OMIM:612712
Retinitis Pigmentosa, Y-Linked	Rod-cone dystrophy	OMIM:400004
Retinal Dysplasia, Primary	Falciform retinal fold, Retinal dysplasia	OMIM:312550
Cone-Rod Dystrophy 19	Retinal dystrophy, Cone/cone-rod dystrophy	OMIM:615860
Retinitis Pigmentosa 55	Rod-cone dystrophy	OMIM:613575
Cone-Rod Dystrophy, X-Linked, 2	Cone/cone-rod dystrophy, Cone dystrophy	OMIM:300085
Retinitis Pigmentosa 67	Rod-cone dystrophy	OMIM:615565
Retinitis Pigmentosa 24	Cone dystrophy, Rod-cone dystrophy	OMIM:300155
Retinoschisis, Autosomal Dominant	Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis	OMIM:180270
Stargardt Disease 1	Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration	OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole	Retinal dystrophy, Reticular pigmentary degeneration, Drusen	OMIM:267800
Macular Degeneration, Age-Related, 13	Choroidal neovascularization, Macular degeneration, Macular scar, Drusen	OMIM:615439
Retinitis Pigmentosa 48	Rod-cone dystrophy, Macular degeneration	OMIM:613827
Exudative Vitreoretinopathy 7	Vitreoretinopathy, Retinal degeneration, Retinal hole	OMIM:617572
Doyne Honeycomb Retinal Dystrophy	Retinal dystrophy, Reticular pigmentary degeneration	OMIM:126600
Cone-Rod Dystrophy 7	Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy	OMIM:603649
Retinal Degeneration And Epilepsy	Retinal degeneration	OMIM:267740
Macular Dystrophy, Patterned, 3	Macular atrophy, Rod-cone dystrophy, Choroidal neovascularization	OMIM:617111
Atrophia Maculosa Varioliformis Cutis, Familial	Macular atrophy	OMIM:601341
Macular Degeneration, Early-Onset	Choroidal neovascularization, Macular degeneration	OMIM:616118
Macular Degeneration, Age-Related, 11	Macular degeneration	OMIM:611953
Macular Degeneration, Age-Related, 4	Macular degeneration	OMIM:610698
Macular Degeneration, Age-Related, 6	Macular degeneration	OMIM:613757
Macular Degeneration, Age-Related, 2	Macular degeneration	OMIM:153800
Retinitis Pigmentosa 36	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degenerat...	OMIM:610599
Stargardt Disease 4	Retinal flecks, Macular degeneration	OMIM:603786
Stargardt Disease 3	Macular atrophy, Macular dystrophy, Macular flecks	OMIM:600110
Macular Dystrophy, Retinal, 2	Retinal pigment epithelial atrophy, Macular dystrophy, Granular macular appearance, Perifoveal ri...	OMIM:608051
Choroidal Dystrophy, Central Areolar, 3	Chorioretinal atrophy, Drusen	OMIM:613144
Hyperleucine-Isoleucinemia	Retinal degeneration	OMIM:238340
Leber Congenital Amaurosis 19	Optic disc pallor, Retinal degeneration, Attenuation of retinal blood vessels	OMIM:618513
Macular Dystrophy, Patterned, 2	Foveal hyperpigmentation, Drusen	OMIM:608970
Macular Degeneration, X-Linked Atrophic	Macular degeneration	OMIM:300834
Macular Dystrophy, Vitelliform, 2	Macular dystrophy, Subretinal fluid, Cystoid macular degeneration	OMIM:153700
Hyperreflexia	Abnormality of retinal pigmentation	OMIM:145290
Ceroid Lipofuscinosis, Neuronal, 6A	Retinal degeneration, Increased neuronal autofluorescent lipopigment	OMIM:601780
X-Linked Retinal Dysplasia	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia	ORPHA:1852
Retinoschisis 1, X-Linked, Juvenile	Macular atrophy, Retinal degeneration, Mizuo phenomenon, Retinal pigment epithelial atrophy, Reti...	OMIM:312700
Retinitis Pigmentosa 31	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:609923
Grouped Pigmentation Of The Retina	Abnormality of retinal pigmentation	OMIM:233800
Macular Dystrophy, Retinal, 3	Retinal pigment epithelial atrophy, Macular drusen	OMIM:608850
Leber Congenital Amaurosis With Early-Onset Deafness	Retinal degeneration	OMIM:617879
Retinitis Pigmentosa Inversa With Deafness	Retinitis pigmentosa inversa, Rod-cone dystrophy	OMIM:268010
Cleft Lip-Retinopathy Syndrome	Abnormality of retinal pigmentation, Retinopathy	ORPHA:1995
Retinal Cone Dystrophy 1	Bull's eye maculopathy, Retinal degeneration, Cone/cone-rod dystrophy	OMIM:180020
Liberfarb Syndrome	Optic disc pallor, Retinal degeneration, Bone spicule pigmentation of the retina, Retinal pigment...	OMIM:618889
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Retinal degeneration	OMIM:251700
Bardet-Biedl Syndrome 13	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:615990
Cone-Rod Dystrophy 22	Hypoautofluorescent retinal lesion, Bull's eye maculopathy, Hyperautofluorescent macular lesion, ...	OMIM:619531
Sorsby Pseudoinflammatory Fundus Dystrophy	Subretinal deposits, Hyporeflective spaces on macular OCT, Choroidal neovascularization, Macular ...	ORPHA:59181
Late-Onset Retinal Degeneration	Sub-RPE deposits, Retinal degeneration, Retinopathy, Rod-cone dystrophy	OMIM:605670
Lattice Degeneration Of Retina Leading To Retinal Detachment	Retinal detachment, Lattice retinal degeneration	OMIM:150500
Retinopathy, Pericentral Pigmentary, Dominant	Attenuation of retinal blood vessels, Retinal dystrophy, Bone spicule pigmentation of the retina,...	OMIM:180210
Retinitis Pigmentosa 13	Cystoid macular edema, Hypopigmentation of the fundus, Retinal degeneration, Rod-cone dystrophy	OMIM:600059
Retinitis Pigmentosa 39	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613809
Central Areolar Choroidal Dystrophy	Macular atrophy, Drusen, Hypopigmentation of the fundus, Retinal pigment epithelial mottling, Hyp...	ORPHA:75377
Persistent Placoid Maculopathy	Choroidal neovascularization, Retinal pigment epithelial mottling, Hypoplasia of the fovea, Abnor...	ORPHA:97341
Leber Hereditary Optic Neuropathy, Autosomal Recessive	Central retinal vessel vascular tortuosity, Retinal nerve fiber edema, Retinal telangiectasia	OMIM:619382
Retinitis Pigmentosa 70	Optic disc pallor, Retinal degeneration, Rod-cone dystrophy	OMIM:615922
Cone-Rod Dystrophy 11	Macular atrophy, Bull's eye maculopathy, Cone/cone-rod dystrophy, Macular degeneration	OMIM:610381
Intellectual Developmental Disorder And Retinitis Pigmentosa	Abnormal flash visual evoked potentials, Optic disc pallor, Peripapillary atrophy, Macular degene...	OMIM:618195
Ceroid Lipofuscinosis, Neuronal, 2	Increased extraneuronal autofluorescent lipopigment, Retinal degeneration, Increased neuronal aut...	OMIM:204500
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Night Blindness, Congenital Stationary, Autosomal Dominant 1	Bone spicule pigmentation of the retina, Congenital stationary night blindness	OMIM:610445
Familial Drusen	Hypoautofluorescent macular lesion, Macular atrophy, Abnormality of retinal pigmentation, Granula...	ORPHA:75376
Best Vitelliform Macular Dystrophy	Cystoid macular degeneration, Choroideremia	ORPHA:1243
Peripheral Cone Dystrophy	Optic atrophy, Peripheral retinal degeneration, Optic disc pallor, Cone/cone-rod dystrophy	OMIM:609021
Retinal Detachment	Retinal detachment	OMIM:180050
Cone-Rod Dystrophy 5	Cone/cone-rod dystrophy, Cone dystrophy, Macular degeneration	OMIM:600977
Nephronophthisis	Abnormality of retinal pigmentation	ORPHA:655
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Pigmentary retinopathy	OMIM:609016
Retinitis Pigmentosa 33	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e...	OMIM:610359
Retinitis Pigmentosa 38	Peripheral retinal atrophy, Macular atrophy, Optic disc pallor, Rod-cone dystrophy	OMIM:613862
Nanophthalmos	Abnormality of retinal pigmentation, Abnormal choroid morphology	ORPHA:35612
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome	Abnormality of retinal pigmentation	ORPHA:2579
Retinitis Pigmentosa 32	Pigmentary retinopathy, Photoreceptor layer loss on macular OCT, Optic disc pallor, Retinal degen...	OMIM:609913
Metaphyseal Dysplasia, Anetoderma, And Optic Atrophy	Optic atrophy, Macular atrophy, Cranial nerve compression	OMIM:250450
Macular Dystrophy, Retinal, 1, North Carolina Type	Abnormality of macular pigmentation, Peripheral retinal atrophy, Macular dystrophy, Drusen	OMIM:136550
Retinitis Pigmentosa 30	Optic atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atrophy...	OMIM:607921
Laurence-Moon Syndrome	Pigmentary retinopathy	OMIM:245800
Senior-Loken Syndrome 7	Retinal degeneration	OMIM:613615
Stargardt Disease	Abnormality of visual evoked potentials, Aplasia/Hypoplasia of the macula, Retinal pigment epithe...	ORPHA:827
Retinitis Pigmentosa 68	Retinal atrophy, Rod-cone dystrophy	OMIM:615725
Spinocerebellar Ataxia, Autosomal Recessive 12	Optic atrophy, Cerebellar atrophy, Retinal degeneration	OMIM:614322
Retinitis Pigmentosa 47	Chorioretinal atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613758
Retinitis Pigmentosa 69	Abnormality of retinal pigmentation, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:615780
Ataxia-Tapetoretinal Degeneration Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:1178
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Macular degeneration, Macular hemorrhage, Foveal hy...	OMIM:603075
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1574
Wagner Vitreoretinopathy	Optic atrophy, Vitreoretinopathy, Exudative vitreoretinopathy, Optically empty vitreous, Retinal ...	OMIM:143200
Progressive Cone Dystrophy	Abnormality of retinal pigmentation	ORPHA:1871
Reticular Dystrophy Of Retinal Pigment Epithelium	Abnormality of retinal pigmentation, Pigmentary retinopathy	OMIM:179840
Cerebellar Hypoplasia-Tapetoretinal Degeneration Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2246
Bothnia Retinal Dystrophy	Retinal dystrophy, Macular degeneration	OMIM:607475
Retinitis Pigmentosa 80	Macular atrophy	OMIM:617781
Progressive Bifocal Chorioretinal Atrophy	Macular atrophy, Chorioretinal dystrophy, Pigmentary retinopathy	ORPHA:75373
Blue Cone Monochromatism	Abnormality of retinal pigmentation	ORPHA:16
Bothnia Retinal Dystrophy	Retinitis, Retinal degeneration, Retinal pigment epithelial mottling, Rod-cone dystrophy, Macular...	ORPHA:85128
Retinitis Pigmentosa 54	Fundus atrophy, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retin...	OMIM:613428
Neuropathy, Ataxia, And Retinitis Pigmentosa	Retinal pigment epithelial mottling, Retinopathy, Rod-cone dystrophy	OMIM:551500
Exudative Vitreoretinopathy 3	Retinal fold, Exudative vitreoretinopathy, Retinal hole, Retinal exudate, Retinal detachment	OMIM:605750
Bestrophinopathy, Autosomal Recessive	Retinal pigment epithelial atrophy, Retinal flecks	OMIM:611809
Retinitis Pigmentosa 11	Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ...	OMIM:600138
Usher Syndrome, Type Iv	Bone spicule pigmentation of the retina, Retinal degeneration, Hyperautofluorescent macular lesio...	OMIM:618144
Ophthalmoplegia, External, And Myopia	Retinal degeneration, Chorioretinal degeneration	OMIM:311000
Retinitis Pigmentosa 61	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:614180
Macular Dystrophy, Vitelliform, 3	Macular atrophy, Drusen, Choroidal neovascularization, Macular dystrophy, Vitelliform-like macula...	OMIM:608161
Cone-Rod Dystrophy 13	Cone/cone-rod dystrophy, Macular degeneration	OMIM:608194
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy	OMIM:614307
Retinitis Pigmentosa 37	Cystoid macular degeneration, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:611131
Central Retinal Vein Occlusion	Intraretinal hemorrhage, Macular edema, Macular degeneration, Papilledema, Retinal neovasculariza...	ORPHA:411527
Intellectual Developmental Disorder With Cardiac Arrhythmia	Arrhythmia, Sick sinus syndrome, Bradycardia, Retinal degeneration	OMIM:617173
Retinitis Pigmentosa 90	Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Cystoid macular edem...	OMIM:619007
Cone-Rod Dystrophy 16	Macular atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, ...	OMIM:614500
X-Linked Neurodegenerative Syndrome, Bertini Type	Macular degeneration	ORPHA:85334
Oculorenocerebellar Syndrome	Retinal degeneration	OMIM:257970
Cone Dystrophy 3	Macular atrophy, Cone/cone-rod dystrophy	OMIM:602093
Retinitis Pigmentosa 76	Bone spicule pigmentation of the retina, Peripapillary atrophy, Hyperautofluorescent macular lesi...	OMIM:617123
Retinitis Pigmentosa 9	Macular atrophy, Bone spicule pigmentation of the retina, Macular edema, Rod-cone dystrophy	OMIM:180104
Vitreoretinopathy With Phalangeal Epiphyseal Dysplasia	Rhegmatogenous retinal detachment, Lattice retinal degeneration	OMIM:619248
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Retinopathy, Pigmentary retinopathy	OMIM:610951
Cone Rod Dystrophy	Abnormality of retinal pigmentation	ORPHA:1872
Developmental And Epileptic Encephalopathy 28	Optic atrophy, Retinal degeneration, Cerebral atrophy	OMIM:616211
Retinitis Pigmentosa 7	Chorioretinal atrophy, Pigmentary retinopathy, Rod-cone dystrophy, Attenuation of retinal blood v...	OMIM:608133
Retinitis Pigmentosa 17	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:600852
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Retinal degeneration, Cystoid macular degeneration	OMIM:267760
Retinitis Pigmentosa 84	Macular coloboma, Macular atrophy, Rod-cone dystrophy	OMIM:618220
Pigmented Paravenous Chorioretinal Atrophy	Vitreoretinopathy, Bone spicule pigmentation of the retina, Paravenous chorioretinal atrophy	OMIM:172870
Retinitis Pigmentosa 88	Optic disc pallor, Bone spicule pigmentation of the retina, Macular degeneration, Cystoid macular...	OMIM:618826
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Abnormality of retinal pigmentation, Optic disc pallor, Retinal fold, Abnormality of skin pigment...	OMIM:251270
Retinitis Pigmentosa 73	Retinal atrophy, Rod-cone dystrophy	OMIM:616544
Morm Syndrome	Retinal dystrophy, Retinal atrophy	ORPHA:75858
Cone Dystrophy, X-Linked, With Tapetal-Like Sheen	Retinal detachment, Cone/cone-rod dystrophy, Cone dystrophy	OMIM:304030
Cone-Rod Dystrophy, X-Linked, 1	Retinal pigment epithelial atrophy, Hypoautofluorescent macular lesion, Retinal pigment epithelia...	OMIM:304020
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Retinal dysplasia	OMIM:615771
Mastocytosis, Cutaneous	Urticaria, Erythema, Telangiectasia macularis eruptiva perstans, Hypermelanotic macule	OMIM:154800
Uv-Sensitive Syndrome 3	Freckling, Telangiectasia, Cutaneous photosensitivity	OMIM:614640
Reese Retinal Dysplasia	Remnants of the hyaloid vascular system, Retinal dysplasia	OMIM:266400
Achromatopsia	Hypoplasia of the fovea, Retinal pigment epithelial mottling, Retinal pigment epithelial atrophy,...	ORPHA:49382
Retinitis Pigmentosa 28	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:606068
Porokeratosis 2, Palmar, Plantar, And Disseminated Type	Plantar telangiectasia, Palmar telangiectasia	OMIM:175850
Retinitis Pigmentosa 19	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Retinal pigment e...	OMIM:601718
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy	OMIM:617613
Choroideremia	Abnormality of retinal pigmentation	ORPHA:180
Retinitis Pigmentosa 2	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312600
Bardet-Biedl Syndrome 16	Retinal degeneration, Rod-cone dystrophy	OMIM:615993
Bietti Crystalline Dystrophy	Subretinal deposits, Retinal pigment epithelial mottling, Chorioretinal degeneration, Retinal pig...	ORPHA:41751
Retinitis Pigmentosa 6	Pigmentary retinopathy, Rod-cone dystrophy, Chorioretinal degeneration	OMIM:312612
Macular Degeneration, Age-Related, 3	Choroidal neovascularization, Macular degeneration, Decreased nerve conduction velocity, Drusen	OMIM:608895
Uv-Sensitive Syndrome 1	Freckling, Telangiectasia, Pigmentation anomalies of sun-exposed skin, Cutaneous photosensitivity	OMIM:600630
Microcephaly-Cardiomyopathy Syndrome	Dilated cardiomyopathy, Abnormality of retinal pigmentation	ORPHA:2515
Retinitis Pigmentosa 4	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:613731
Retinal Dystrophy And Obesity	Retinal pigment epithelial atrophy, Retinal dystrophy, Retinal detachment, Peripapillary atrophy	OMIM:616188
Retinitis Pigmentosa 27	Macular atrophy, Peripapillary chorioretinal atrophy, Macular edema, Rod-cone dystrophy, Choriore...	OMIM:613750
Encephalopathy With Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, And Retinal Degeneration	Retinal degeneration	OMIM:225755
Achromatopsia 7	Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea	OMIM:616517
Retinal Telangiectasia And Hypogammaglobulinemia	Retinal telangiectasia	OMIM:267900
Retinitis Pigmentosa 87 With Choroidal Involvement	Nummular pigmentation of the fundus, Bone spicule pigmentation of the retina, Chorioretinal atrop...	OMIM:618697
Microphthalmia, Isolated 5	Foveoschisis, Drusen, Abnormality of skin pigmentation, Optic disc drusen, Bone spicule pigmentat...	OMIM:611040
Oliver-Mcfarlane Syndrome	Central heterochromia, Retinal degeneration, Pigmentary retinopathy	OMIM:275400
Hypobetalipoproteinemia, Familial, 1	Retinal degeneration, Rod-cone dystrophy	OMIM:615558
Chorioretinal Atrophy, Progressive Bifocal	Retinal detachment, Chorioretinal dystrophy, Chorioretinal atrophy	OMIM:600790
Ceroid Lipofuscinosis, Neuronal, 1	Optic atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment, Macular dege...	OMIM:256730
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex	OMIM:615147
Retinopathy, Pericentral Pigmentary, Autosomal Recessive	Pigmentary retinopathy	OMIM:268060
Spinocerebellar Ataxia, Autosomal Recessive 29	Optic disc pallor, Retinal pigment epithelial mottling	OMIM:619389
Ramon Syndrome	Abnormality of retinal pigmentation, Telangiectasia of the skin	ORPHA:3019
Ceroid Lipofuscinosis, Neuronal, 5	Cerebellar atrophy, Retinal degeneration, Increased neuronal autofluorescent lipopigment	OMIM:256731
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis	Exudative retinal detachment, Retinal detachment, Retinal arterial macroaneurysms	OMIM:614224
Retinal Cone Dystrophy 4	Retinal pigment epithelial mottling, Cone/cone-rod dystrophy	OMIM:610478
Nephronophthisis 14	Retinal degeneration	OMIM:614844
Spondylometaphyseal Dysplasia, Axial	Optic atrophy, Retinal degeneration, Rod-cone dystrophy	OMIM:602271
Hypotaurinemic Retinal Degeneration And Cardiomyopathy	Dilated cardiomyopathy, Peripheral retinal atrophy, Macular atrophy, Photoreceptor layer loss on ...	OMIM:145350
Exudative Vitreoretinopathy 2, X-Linked	Subretinal exudate, Exudative vitreoretinopathy, Retinal hole, Peripheral vitreous opacities, Ret...	OMIM:305390
Congenital Stationary Night Blindness	Abnormality of retinal pigmentation, Congenital stationary night blindness with normal fundus, Co...	ORPHA:215
Ring Chromosome 14 Syndrome	Pigmentary retinopathy	OMIM:616606
Cone-Rod Dystrophy 21	Retinal dystrophy, Macular atrophy	OMIM:616502
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Peripheral retinal degeneration, Central retinal exudate, Retinal hemorrhage	OMIM:264420
Cone-Rod Dystrophy 15	Retinal pigment epithelial atrophy, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:613660
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Abnormality of retinal pigmentation, Facial palsy	ORPHA:2743
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Generalized hyperpigmentation, Erythema, Macular degeneratio...	ORPHA:816
Congenital Glaucoma	Retinal detachment	ORPHA:98976
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy	OMIM:619090
Diabetes And Deafness, Maternally Inherited	Retinal degeneration, Cardiomyopathy, Pigmentary retinopathy	OMIM:520000
Leber Hereditary Optic Neuropathy	Optic atrophy, Ventricular preexcitation, Retinal telangiectasia, Retinal vascular tortuosity, Ar...	ORPHA:104
Diprosopus	Abnormality of retinal pigmentation	ORPHA:1681
Leber Congenital Amaurosis 2	Fundus atrophy, Pigmentary retinopathy	OMIM:204100
Moyamoya Disease 1	Telangiectasia, Inflammatory arteriopathy	OMIM:252350
Nephronophthisis 15	Retinal degeneration	OMIM:614845
Bardet-Biedl Syndrome 4	Retinal degeneration, Rod-cone dystrophy	OMIM:615982
Retinitis Pigmentosa 1	Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:180100
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction	Retinal pigment epithelial mottling, Hyporeflective spaces on macular OCT, Central retinal vessel...	ORPHA:506353
Retinopathy Of Prematurity	Retinal arteriolar tortuosity, Tractional retinal detachment, Abnormal retinal vascular morpholog...	ORPHA:90050
Retinitis Pigmentosa 77	Cystoid macular edema, Retinal atrophy, Rod-cone dystrophy	OMIM:617304
Familial Cylindromatosis	Telangiectasia of the skin	ORPHA:211
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Retinal dysplasia	OMIM:615041
Retinitis Pigmentosa 3	Rod-cone dystrophy	OMIM:300029
Exudative Vitreoretinopathy 6	Exudative vitreoretinopathy, Retinal detachment, Posterior vitreous detachment, Chorioretinal atr...	OMIM:616468
Cutis Marmorata Telangiectatica Congenita	Telangiectasia, Hypertension, Cutis marmorata, Retinal detachment	OMIM:219250
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Kearns-Sayre Syndrome	Third degree atrioventricular block, Abnormality of retinal pigmentation	ORPHA:480
Retinitis Pigmentosa 92	Pigmentary retinopathy	OMIM:619614
Familial Exudative Vitreoretinopathy	Rhegmatogenous retinal detachment, Tractional retinal detachment, Vitreous floaters, Vitreoretino...	ORPHA:891
Eem Syndrome	Abnormality of retinal pigmentation, Macular dystrophy, Retinopathy	ORPHA:1897
Senior-Loken Syndrome	Hypertension, Abnormality of retinal pigmentation, Retinal dystrophy	ORPHA:3156
Oguchi Disease	Macular degeneration, Mizuo phenomenon, Congenital stationary night blindness, Rod-cone dystrophy	ORPHA:75382
Morning Glory Disc Anomaly	Retinal detachment, Abnormality of retinal pigmentation, Optic disc coloboma	ORPHA:35737
Retinitis Pigmentosa 41	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst...	OMIM:612095
Capillary Malformation-Arteriovenous Malformation 2	Telangiectasia	OMIM:618196
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Retinal degeneration, Rod-cone dystrophy	OMIM:615981
Iris Pigment Layer, Cleavage Of	Peripheral retinal detachment	OMIM:147610
Birdshot Chorioretinopathy	Photoreceptor layer loss on macular OCT, Optic disc pallor, Vitreous floaters, Choroidal neovascu...	ORPHA:179
Ceroid Lipofuscinosis, Neuronal, 3	Optic atrophy, Increased extraneuronal autofluorescent lipopigment, Increased neuronal autofluore...	OMIM:204200
Bietti Crystalline Corneoretinal Dystrophy	Retinal degeneration, Chorioretinal atrophy	OMIM:210370
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal dystrophy, Macular atrophy, Chorioretinal coloboma, Retinal detachment	OMIM:212550
Glutathione Synthetase Deficiency	Pigmentary retinopathy	OMIM:266130
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Telangiectasia of the skin, Cutaneous photosensitivity, Retinal telangiectasia	ORPHA:438134
Retinitis Pigmentosa 50	Optic disc pallor, Retinal flecks, Rod-cone dystrophy, Retinal detachment, Attenuation of retinal...	OMIM:613194
Spinocerebellar Ataxia 7	Optic atrophy, Macular degeneration, Pigmentary retinopathy	OMIM:164500
Leber Congenital Amaurosis 4	Macular atrophy, Optic disc pallor, Cone/cone-rod dystrophy, Attenuation of retinal blood vessels	OMIM:604393
Retinitis Pigmentosa 45	Bone spicule pigmentation of the retina, Rod-cone dystrophy, Macular degeneration	OMIM:613767
Cutaneous Collagenous Vasculopathy	Diffuse telangiectasia, Petechiae, Vascular skin abnormality, Erythema, Prominent superficial blo...	ORPHA:280779
Canavan Disease	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials	ORPHA:141
Cone-Rod Dystrophy 3	Optic disc pallor, Attenuation of retinal blood vessels, Bull's eye maculopathy, Pigmentary retin...	OMIM:604116
Vitreoretinopathy, Neovascular Inflammatory	Vitreoretinopathy, Large hyperpigmented retinal spots, Peripheral retinal neovascularization, Ret...	OMIM:193235
Bardet-Biedl Syndrome 21	Hypoplasia of the fovea, Retinal atrophy, Hyperautofluorescent macular lesion, Rod-cone dystrophy...	OMIM:617406
Sjogren-Larsson Syndrome	Retinal pigment epithelial atrophy, Retinal thinning, Macular degeneration	OMIM:270200
Exudative Vitreoretinopathy 5	Exudative vitreoretinopathy, Tractional retinal detachment, Retinal exudate	OMIM:613310
Familial Primary Hypomagnesemia With Hypercalciuria And Nephrocalcinosis With Severe Ocular Involvement	Macular coloboma, Abnormality of retinal pigmentation, Chorioretinal coloboma	ORPHA:2196
Cholestasis With Gallstone, Ataxia, And Visual Disturbance	Optic atrophy, Retinal degeneration, Jaundice	OMIM:214980
Coloboma Of Optic Nerve	Retinal detachment, Optic disc coloboma	OMIM:120430
Retinitis Pigmentosa 46	Pigmentary retinopathy, Optic disc pallor, Rod-cone dystrophy, Attenuation of retinal blood vessels	OMIM:612572
Exudative Vitreoretinopathy 1	Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal exudate, Retinal neovas...	OMIM:133780
Familial Multiple Trichoepithelioma	Telangiectasia of the skin	ORPHA:867
Cofs Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cutaneous photosensitivity	ORPHA:1466
Vitreoretinal Degeneration, Snowflake Type	Retinal dots, Retinal detachment, Optically empty vitreous, Snowflake vitreoretinal degeneration	OMIM:193230
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hypertrophic cardiomyopathy, Telangiectasia, Telangiectasia of the skin, Optic atrophy	ORPHA:79279
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic atrophy, Macular atrophy, Optic disc pallor, Cerebellar atrophy, Retinopathy, Cerebral atrophy	OMIM:616171
Bornholm Eye Disease	Abnormality of retinal pigmentation, Optic nerve hypoplasia	OMIM:300843
Coloboma Of Macula	Macular coloboma	OMIM:120300
Irvan Syndrome	Optic atrophy, Tractional retinal detachment, Vitreous floaters, Macular edema, Retinal exudate, ...	ORPHA:209943
Aplasia Cutis-Myopia Syndrome	Abnormality of retinal pigmentation	ORPHA:1117
Peroxisomal Acyl-Coa Oxidase Deficiency	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:264470
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypoplasia of the fovea, Ocular albinism, White hair, Albini...	ORPHA:79435
Telangiectasia, Hereditary Benign	Diffuse telangiectasia	OMIM:187260
Leber Congenital Amaurosis	Abnormality of retinal pigmentation, Abnormality of the optic disc	ORPHA:65
Cone-Rod Dystrophy 8	Abnormality of the optic nerve, Abnormality of retinal pigmentation, Macular degeneration, Cone/c...	OMIM:605549
Leber Congenital Amaurosis 1	Fundus atrophy, Pigmentary retinopathy	OMIM:204000
Leber Congenital Amaurosis 15	Optic disc pallor, Retinal degeneration, Rod-cone dystrophy, Retinopathy, Pigmentary retinopathy	OMIM:613843
Moyamoya Disease	Telangiectasia	ORPHA:2573
Retinitis Pigmentosa 56	Pigmentary retinopathy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dyst...	OMIM:613581
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina, Rod-cone dystrophy...	OMIM:613464
Retinitis Pigmentosa 83	Vitreous floaters, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Cystoid macular e...	OMIM:618173
Retinopathy, Pigmentary, And Mental Retardation	Pigmentary retinopathy	OMIM:268050
Rombo Syndrome	Facial telangiectasia	OMIM:180730
Vitreoretinochoroidopathy	Abnormality of chorioretinal pigmentation, Retinal detachment, Retinal neovascularization, Vitreo...	OMIM:193220
Microcephaly-Thin Corpus Callosum-Intellectual Disability Syndrome	Abnormality of retinal pigmentation	ORPHA:397951
Abetalipoproteinemia	Retinal degeneration, Retinopathy	OMIM:200100
Stargardt Macular Degeneration, Absent Or Hypoplastic Corpus Callosum, Mental Retardation, And Dysmorphic Facial Features	Macular degeneration	OMIM:612948
Bardet-Biedl Syndrome 3	Pigmentary retinopathy, Tricuspid regurgitation, Rod-cone dystrophy	OMIM:600151
Retinitis Pigmentosa 49	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613756
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Heterochromia iridis, Abnormal retinal vascular morphology, Abnormality of retinal pigmentation	ORPHA:1390
Hsd10 Mitochondrial Disease	Hypertrophic cardiomyopathy, Optic atrophy, Retinal degeneration	OMIM:300438
Joubert Syndrome 28	Optic disc pallor, Pigmentary retinopathy	OMIM:617121
Jalili Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1873
Tricho-Retino-Dento-Digital Syndrome	Abnormality of retinal pigmentation	ORPHA:1264
Retinitis Pigmentosa 79	Macular atrophy, Optic disc pallor	OMIM:617460
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertrophic cardiomyopathy, Retinal degeneration	OMIM:616896
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Aganglionic megacolon, Premature graying of hair, White eyel...	ORPHA:897
Stickler Syndrome, Type I, Nonsyndromic Ocular	Rhegmatogenous retinal detachment, Optically empty vitreous	OMIM:609508
Non-Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure, Subcutaneous calcification, Prominent super...	ORPHA:141179
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Telangiectasia, Vasculitis in the skin, Raynaud phenomenon, Retinal exudate, Macular edema, Punct...	OMIM:192315
Retinitis Pigmentosa 43	Optic disc pallor, Attenuation of retinal blood vessels, Bone spicule pigmentation of the retina,...	OMIM:613810
Retinitis Pigmentosa 10	Geographic atrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy	OMIM:180105
Mucolipidosis Iv	Optic atrophy, Cerebellar atrophy, Retinal degeneration	OMIM:252650
Eales Disease	Rhegmatogenous retinal detachment, Optic disc pallor, Tractional retinal detachment, Vitreous flo...	ORPHA:40923
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature	Telangiectases of the cheeks	OMIM:615139
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Abnormality of visual evoked po...	ORPHA:96
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Neuronal loss in central nerv...	OMIM:610127
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Chorioretinal atr...	OMIM:602772
Retinitis Pigmentosa 58	Optic disc pallor, Bone spicule pigmentation of the retina, Rod-cone dystrophy, Attenuation of re...	OMIM:613617
Facioscapulohumeral Muscular Dystrophy 1	Exudative retinal detachment, Facial palsy, Retinal telangiectasia	OMIM:158900
Choroidal Atrophy-Alopecia Syndrome	Abnormality of retinal pigmentation	ORPHA:1433
Cutaneous Mastocytoma	Angioedema, Hyperpigmentation of the skin, Erythema, Telangiectasia of the skin, Dermatographic u...	ORPHA:79455
Coats Disease	Abnormal retinal vascular morphology, Retinal detachment, Abnormal macular morphology	ORPHA:190
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Retinal degeneration	OMIM:607016
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Hypermelanotic macule, Macular telangi...	ORPHA:69125
Retinitis Pigmentosa	Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Optic atrophy	ORPHA:791
Poretti-Boltshauser Syndrome	Retinal dystrophy, Retinal thinning, Retinal atrophy	OMIM:615960
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation	ORPHA:1259
Juvenile Paget Disease	Hypertension, Abnormality of retinal pigmentation, Optic atrophy, Melanocytic nevus	ORPHA:2801
Narp Syndrome	Retinal arteriolar tortuosity, Optic disc pallor, Retinal pigment epithelial mottling, Rod-cone d...	ORPHA:644
Stickler Syndrome Type 2	Abnormal vitreous humor morphology, Retinal detachment, Retinopathy	ORPHA:90654
Retinal Cone Dystrophy 3B	Macular atrophy, Cone/cone-rod dystrophy	OMIM:610356
Congenital Disorder Of Glycosylation, Type Ie	Optic atrophy, Telangiectasia, Retinopathy, Abnormal macular morphology	OMIM:608799
Macrophthalmia, Colobomatous, With Microcornea	Macular atrophy	OMIM:602499
Cerebral Cavernous Malformations 2	Cerebral hemorrhage, Telangiectasia	OMIM:603284
Birt-Hogg-Dubé Syndrome	Abnormality of retinal pigmentation	ORPHA:122
Birdshot Chorioretinopathy	Retinal pigment epithelial atrophy, Abnormal chorioretinal morphology, Vitritis	OMIM:605808
Rapidly Involuting Congenital Hemangioma	Telangiectasia of the skin, Congestive heart failure, Subcutaneous calcification, Prominent super...	ORPHA:141184
Xeroderma Pigmentosum Variant	Telangiectasia, Cutaneous photosensitivity, Hyperpigmentation of the skin, Hypopigmentation of th...	ORPHA:90342
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Abnormality of retinal pigmentation	ORPHA:2521
Retinal Dystrophy And Iris Coloboma With Or Without Congenital Cataract	Retinal atrophy	OMIM:616722
Retinitis Punctata Albescens	Pigmentary retinopathy, Macular atrophy, Retinal atrophy, Retinal pigment epithelial mottling, Ab...	ORPHA:52427
Angiomatosis, Diffuse Corticomeningeal, Of Divry And Van Bogaert	Hypertension, Cutis marmorata, Telangiectases producing 'marbled' skin	OMIM:206570
Retinitis Pigmentosa 82 With Or Without Situs Inversus	Macular atrophy, Optic disc pallor, Rod-cone dystrophy	OMIM:615434
Blindness-Scoliosis-Arachnodactyly Syndrome	Retinal detachment, Abnormality of retinal pigmentation	ORPHA:171844
Congenital Toxoplasmosis	Abnormality of retinal pigmentation, Jaundice	ORPHA:858
Spastic Paraplegia 11, Autosomal Recessive	Degeneration of the lateral corticospinal tracts, Retinal degeneration, Cerebral cortical atrophy...	OMIM:604360
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Telangiectasia	OMIM:614564
Oculocutaneous Albinism Type 1B	Abnormality of the optic nerve, Abnormality of retinal pigmentation, Hypoplasia of the fovea, Fre...	ORPHA:79434
Retinitis Pigmentosa 14	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal arteriolar constriction, Rod-...	OMIM:600132
Retinal Venous Beading	Abnormal distribution of retinal arterioles and venules, Retinal neovascularization, Vitreous hem...	OMIM:180080
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Pigmentary retinopathy	OMIM:252011
Lipodystrophy, Familial Partial, Type 7	Orthostatic hypotension, Decreased adipose tissue around neck, Lack of facial subcutaneous fat, P...	OMIM:606721
Severe Early-Childhood-Onset Retinal Dystrophy	Rhegmatogenous retinal detachment, Abnormality of retinal pigmentation, Optic disc pallor, Granul...	ORPHA:364055
Limited Cutaneous Systemic Sclerosis	Hypopigmented skin patches, Abnormality of skin pigmentation, Pulmonary arterial hypertension, Te...	ORPHA:220402
Retinitis Pigmentosa 74	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	OMIM:616562
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Retinal dysplasia	OMIM:614830
Telangiectasia, Hereditary Hemorrhagic, Type 5	Telangiectasia, Portal hypertension, Spontaneous, recurrent epistaxis	OMIM:615506
Thiamine-Responsive Megaloblastic Anemia Syndrome	Optic atrophy, Retinal degeneration, Cardiomyopathy, Cone/cone-rod dystrophy, Arrhythmia	OMIM:249270
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Hypertrophic cardiomyopathy, Abnormality of retinal pigmentation, Retinopathy, Chorioretinal atro...	ORPHA:5
Leigh Syndrome With Leukodystrophy	Hypertrophic cardiomyopathy, Optic atrophy, Pigmentary retinopathy	ORPHA:255241
Cone-Rod Dystrophy 2	Macular hyperpigmentation, Bone spicule pigmentation of the retina, Retinal pigment epithelial at...	OMIM:120970
Bardet-Biedl Syndrome 9	Bone spicule pigmentation of the retina, Retinal degeneration, Rod-cone dystrophy, Attenuation of...	OMIM:615986
Oculocutaneous Albinism Type 2	Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hypoplasia of the fov...	ORPHA:79432
Cataract 21, Multiple Types	Macular hypoplasia, Retinal detachment	OMIM:610202
Cone-Rod Dystrophy And Hearing Loss 1	Retinal atrophy, Macular degeneration	OMIM:617236
Fbln1-Related Developmental Delay-Central Nervous System Anomaly-Syndactyly Syndrome	Choroidal neovascularization, Cerebral cortical atrophy, Macular degeneration	ORPHA:404451
Cerebellar Ataxia-Hypogonadism Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:1173
Enhanced S-Cone Syndrome	Vitreoretinopathy, Retinoschisis, Macular edema, Pigmentary retinopathy	OMIM:268100
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy	Pigmentary retinopathy, Cardiomyopathy, Abnormal atrioventricular conduction	ORPHA:329336
Werner Syndrome	Progeroid facial appearance, Retinal degeneration, Subcutaneous calcification	OMIM:277700
Stickler Syndrome, Type V	Vitreoretinopathy, Retinal detachment	OMIM:614284
Cone-Rod Dystrophy, X-Linked, 3	Optic disc pallor, Retinal detachment, Abnormality of macular pigmentation, Absent foveal reflex,...	OMIM:300476
Short-Rib Thoracic Dysplasia 4 With Or Without Polydactyly	Retinal degeneration	OMIM:613819
Hypotrichosis With Juvenile Macular Degeneration	Freckling, Melanocytic nevus, Abnormality of macular pigmentation, Macular degeneration	ORPHA:1573
Mitochondrial Complex Iv Deficiency, Nuclear Type 15	Pulmonary arterial hypertension, Pigmentary retinopathy	OMIM:619059
Coats Disease	Exudative retinal detachment, Retinal telangiectasia	OMIM:300216
Refsum Disease, Classic	Retinal degeneration, Cardiomyopathy, Rod-cone dystrophy, Congestive heart failure, Arrhythmia	OMIM:266500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Retinal dysplasia	OMIM:613154
Oculopharyngodistal Myopathy 3	Pigmentary retinopathy	OMIM:619473
Desmoid Tumor	Gastrointestinal hemorrhage, Abnormality of retinal pigmentation	ORPHA:873
Jeune Syndrome	Abnormality of retinal pigmentation	ORPHA:474
Acute Zonal Occult Outer Retinopathy	Vitreous inflammatory cells, Macular drusen, Abnormal fundus fluorescein angiography, Retinal pig...	ORPHA:284454
Cone-Rod Dystrophy 10	Cone/cone-rod dystrophy, Rod-cone dystrophy, Macular degeneration	OMIM:610283
Myopia 3, Autosomal Dominant	Retinal detachment	OMIM:603221
Myopia 2, Autosomal Dominant	Retinal detachment	OMIM:160700
Myopia 5, Autosomal Dominant	Retinal detachment	OMIM:608474
Oculocutaneous Albinism Type 1	Blue irides, Abnormality of visual evoked potentials, Cutaneous photosensitivity, Hypoplasia of t...	ORPHA:352731
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:44
Congenital Muscular Dystrophy With Intellectual Disability	Facial palsy, Pigmentary retinopathy	ORPHA:370968
Alg6-Cdg	Retinal degeneration, Rod-cone dystrophy, Jaundice	ORPHA:79320
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Optic atrophy, Telangiectasia of the skin, Cerebral ischemia, Cutis marmorata, Hypermelanotic mac...	ORPHA:60040
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy	OMIM:219900
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome	Abnormality of retinal pigmentation	ORPHA:3085
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Attenuation of retinal blood vessels, Decreased sensory nerve conduction velocity,...	OMIM:609033
Neurocutaneous Melanocytosis	Abnormality of retinal pigmentation, Intracranial hemorrhage, Chorioretinal coloboma, Generalized...	ORPHA:2481
Late-Onset Retinal Degeneration	Multifocal subretinal deposits, Macular atrophy, Patchy atrophy of the retinal pigment epithelium...	ORPHA:67042
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Hypertension, Telangiectasia, Cardiomyopathy, Raynaud phenomenon, Macular edema, Abnormal retinal...	ORPHA:247691
Microspherophakia With Hernia	Retinal detachment	OMIM:157150
Autosomal Recessive Spastic Paraplegia Type 15	Retinal flecks, Yellow/white lesions of the retina, Pigmentary retinopathy	ORPHA:100996
Acrogeria	Excessive wrinkled skin, Prematurely aged appearance, Irregular hyperpigmentation, Telangiectasia...	ORPHA:2500
Congenital Sialidosis Type 2	Telangiectasia, Optic atrophy, Hypoplasia of the fovea, Petechiae, Cherry red spot of the macula,...	ORPHA:93400
Corpus Callosum Agenesis-Neuronopathy Syndrome	Abnormality of retinal pigmentation	ORPHA:1496
Aceruloplasminemia	Retinal degeneration	OMIM:604290
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Left ventricular systolic dysfunction, Pigmentary retinopathy	OMIM:613156
Senior-Loken Syndrome 9	Retinal dystrophy, Rod-cone dystrophy, Macular degeneration	OMIM:616629
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Macular atrophy, Optic disc pallor, Abnormal auditory evoked potentials, Retinal degeneration, Ce...	OMIM:619260
Bardet-Biedl Syndrome 17	Macular atrophy, Retinal degeneration, Bone spicule pigmentation of the retina, Rod-cone dystroph...	OMIM:615994
Myopia, High, With Cataract And Vitreoretinal Degeneration	Retinal detachment, Peripheral vitreoretinal degeneration	OMIM:614292
Exudative Vitreoretinopathy 4	Tractional retinal detachment, Exudative vitreoretinopathy, Peripheral retinal avascularization, ...	OMIM:601813
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Jaundice	ORPHA:290
Gnb5-Related Intellectual Disability-Cardiac Arrhythmia Syndrome	Retinal degeneration, Ventricular escape rhythm, Bradycardia, Prolonged PR interval, Sick sinus s...	ORPHA:542306
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Retinopathy	ORPHA:578
Ataxia-Telangiectasia	Telangiectasia of the skin, Prematurely aged appearance, Multiple cafe-au-lait spots, Mucosal tel...	ORPHA:100
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Retinal dystrophy, Retinal atrophy	ORPHA:370022
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Retinal degeneration, Tachycardia, Pigmentary retinopathy	ORPHA:79264
Ramon Syndrome	Telangiectasia, Angiokeratoma, Optic disc pallor, Pigmentary retinopathy	OMIM:266270
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Optic atrophy, Abnormality of retinal pigmentation	ORPHA:2518
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Retinal pigment epithelial mottling	OMIM:619517
Spastic Paraplegia 15, Autosomal Recessive	Retinal degeneration, Macular degeneration	OMIM:270700
Vici Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Cardiomyopathy, Hypopigmentation of the skin,...	ORPHA:1493
Arthrogryposis, Distal, Type 5	Abnormality of retinal pigmentation	OMIM:108145
Retinitis Pigmentosa, Deafness, Mental Retardation, And Hypogonadism	Rod-cone dystrophy, Pigmentary retinopathy	OMIM:268020
Optic Atrophy 8	Prolonged somatosensory evoked potentials, Optic atrophy, Abnormal auditory evoked potentials, Ab...	OMIM:616648
Zika Virus Disease	Macular atrophy, Optic disc hypoplasia, Abnormality of the optic disc, Retinal pigment epithelial...	ORPHA:448237
Retinitis Pigmentosa And Erythrocytic Microcytosis	Optic disc pallor, Photoreceptor layer loss on macular OCT, Retinal pigment epithelial atrophy, E...	OMIM:616959
Paget Disease Of Bone 5, Juvenile-Onset	Retinal degeneration, Retinopathy, Macular scar, Angioid streaks of the fundus	OMIM:239000
Joubert Syndrome 3	Retinal dystrophy, Pigmentary retinopathy	OMIM:608629
Joubert Syndrome 8	Prolonged neonatal jaundice, Optic disc pallor, Pigmentary retinopathy	OMIM:612291
Leigh Syndrome	Optic atrophy, Pigmentary retinopathy	OMIM:256000
Pseudoxanthoma Elasticum	Hypertension, Angina pectoris, Excessive wrinkled skin, Angioid streaks of the fundus, Restrictiv...	ORPHA:758
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Undetectable visual evoked potentials, Patchy atrophy of the retinal pigment epithelium, Rod-cone...	ORPHA:436245
Hsd10 Disease, Infantile Type	Frontotemporal cerebral atrophy, Optic atrophy, Retinal degeneration, Neurodegeneration, Rod-cone...	ORPHA:391428
Pseudoxanthoma Elasticum	Hypertension, Retinal hemorrhage, Renovascular hypertension, Angioid streaks of the fundus, Restr...	OMIM:264800
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:216866
Refsum Disease	Abnormality of retinal pigmentation, Cardiomyopathy, Heart block, Retinopathy	ORPHA:773
Norrie Disease	Optic atrophy, Retinal detachment, Retinal fold, Retinal dysplasia	OMIM:310600
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Retinal dysplasia	ORPHA:324416
Necrobiosis Lipoidica	Erythema, Telangiectasia of the skin, Fragile skin	ORPHA:542592
Autosomal Dominant Optic Atrophy Plus Syndrome	Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Absent brains...	ORPHA:1215
Congenital Primary Aphakia	Retinal dysplasia	ORPHA:83461
Joubert Syndrome 6	Chorioretinal coloboma, Retinal degeneration	OMIM:610688
Partington Syndrome	Facial telangiectasia	ORPHA:94083
Chromosome 6Pter-P24 Deletion Syndrome	Telangiectasia, Pigmentary retinopathy	OMIM:612582
Severe Oculo-Renal-Cerebellar Syndrome	Hypopigmented skin patches, Abnormal retinal vascular morphology, Abnormality of retinal pigmenta...	ORPHA:2715
Cutis Marmorata Telangiectatica Congenita	Telangiectasia of the skin, Subcutaneous hemorrhage, Retinal detachment, Cutis marmorata, Purpura...	ORPHA:1556
Mulibrey Nanism	Congestive heart failure, Pigmentary retinopathy	OMIM:253250
Xeroderma Pigmentosum, Complementation Group B	Optic atrophy, Cutaneous photosensitivity, Progeroid facial appearance, Freckling, Decreased nerv...	OMIM:610651
Transaldolase Deficiency	Telangiectasia, Premature skin wrinkling	ORPHA:101028
Lowry-Wood Syndrome	Abnormality of retinal pigmentation	ORPHA:1824
Hereditary Hemorrhagic Telangiectasia	Cerebral hemorrhage, Conjunctival telangiectasia, Telangiectasia of the skin, Epistaxis, Pulmonar...	ORPHA:774
Ectopia Lentis Et Pupillae	Retinal detachment	OMIM:225200
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Telangiectasia, Erythema, Fragile skin, Cutaneous photosensitivity	ORPHA:158673
Isolated Succinate-Coq Reductase Deficiency	Hypertrophic cardiomyopathy, Noncompaction cardiomyopathy, Abnormal atrioventricular conduction, ...	ORPHA:3208
Hennekam-Beemer Syndrome	Optic atrophy, Generalized hyperpigmentation, Abnormality of skin pigmentation, Erythema, Telangi...	ORPHA:2135
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Blotching pigmentation of the skin, Mottled pigmentation of photoexposed areas, Pigmentary retino...	OMIM:560000
Micro Syndrome	Optic atrophy, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Reti...	ORPHA:2510
Wolfram Syndrome 1	Optic atrophy, Cardiomyopathy, Pigmentary retinopathy	OMIM:222300
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Retinal degeneration, Heart murmur, Rod-cone dystrophy, Abnormality of pattern visual evoked pote...	ORPHA:166035
Kearns-Sayre Syndrome	Cardiomyopathy, Third degree atrioventricular block, Arrhythmia, Pigmentary retinopathy	OMIM:530000
Werner Syndrome	Hypertension, Abnormality of retinal pigmentation, Telangiectasia of the skin, Subcutaneous calci...	ORPHA:902
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Brain atrophy, Retinal degeneration, Cerebral atrophy	ORPHA:442835
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Retinal degeneration, Retinopathy	OMIM:252600
Holoprosencephaly-Craniosynostosis Syndrome	Abnormality of retinal pigmentation	ORPHA:2163
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Abnormal sensory nerve conduction velocity, Bone spicule pigmentation of the retina, Rod-cone dys...	ORPHA:88628
Hemochromatosis, Type 1	Telangiectasia, Hyperpigmentation of the skin, Cardiomyopathy, Congestive heart failure, Arrhythmia	OMIM:235200
Pontocerebellar Hypoplasia, Type 2E	Facial telangiectasia, Optic atrophy	OMIM:615851
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Cerebellar atrophy, Macular degeneration	ORPHA:284289
Schöpf-Schulz-Passarge Syndrome	Facial telangiectasia, Ectodermal dysplasia	ORPHA:50944
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Retinal degeneration	OMIM:615630
Late Infantile Neuronal Ceroid Lipofuscinosis	Abnormality of visual evoked potentials, Retinal degeneration, Abnormal amplitude of flash visual...	ORPHA:168491
Multiple Sulfatase Deficiency	Abnormality of peripheral nerve conduction, Optic atrophy, Abnormality of retinal pigmentation	ORPHA:585
Angioosteohypotrophic Syndrome	Telangiectasia of the skin, Prominent superficial veins	ORPHA:75508
Malignant Atrophic Papulosis	Abnormality of the optic nerve, Telangiectasia of the skin, Myocardial infarction, Gastrointestin...	ORPHA:679
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy	ORPHA:79095
Papillorenal Syndrome	Morning glory anomaly, Macular hyperpigmentation, Retinal coloboma, Optic disc coloboma, Macular ...	OMIM:120330
Classic Homocystinuria	Hypertension, Abnormality of retinal pigmentation, Intracranial hemorrhage, Optic atrophy, Cerebr...	ORPHA:394
Incontinentia Pigmenti	Hypopigmented skin patches, Abnormality of skin pigmentation, Retinal vascular proliferation, Pul...	ORPHA:464
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Retinal degeneration	OMIM:615249
Prolidase Deficiency	White forelock, Abnormality of retinal pigmentation, Erythema, Cutaneous photosensitivity	ORPHA:742
Aceruloplasminemia	Abnormality of retinal pigmentation, Retinal degeneration, Congestive heart failure, Macular dege...	ORPHA:48818
Tempi Syndrome	Telangiectasia, Intracranial hemorrhage, Facial erythema	ORPHA:284227
Mitochondrial Trifunctional Protein Deficiency	Dilated cardiomyopathy, Arrhythmia, Congestive heart failure, Pigmentary retinopathy	OMIM:609015
Microphthalmia, Isolated 8	Retinal detachment, Optic nerve hypoplasia	OMIM:615113
Pyruvate Dehydrogenase E2 Deficiency	Neurodegeneration, Retinal degeneration	ORPHA:79244
Nephronophthisis 11	Retinal degeneration	OMIM:613550
Reynolds Syndrome	Telangiectasia of the skin, Generalized abnormality of skin, Irregular hyperpigmentation, Mucosal...	ORPHA:779
Bardet-Biedl Syndrome	Hypertension, Pigmentary retinopathy	ORPHA:110
Epidermodysplasia Verruciformis	Hypopigmented skin patches, Telangiectasia of the skin, Multiple cafe-au-lait spots	ORPHA:302
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Portal hypertension, Premature graying of hair, Retinal telangiectasia	OMIM:617341
Ataxia-Telangiectasia-Like Disorder 2	Telangiectasia, Conjunctival telangiectasia, Cutaneous photosensitivity	OMIM:615919
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome	Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:2235
Cone-Rod Dystrophy 6	Macular atrophy, Cone/cone-rod dystrophy	OMIM:601777
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Macular atrophy, Abnormality of retinal pigmentation, Retinal thinning, Cone/cone-rod dystrophy, ...	ORPHA:85167
Lig4 Syndrome	Telangiectasia, Cutaneous photosensitivity	OMIM:606593
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Multiple cafe-au-lait spots, Generalized hypopigmentation, M...	ORPHA:1969
Telangiectasia, Hereditary Hemorrhagic, Type 2	Spontaneous, recurrent epistaxis, Melena, Transient ischemic attack, Nasal mucosa telangiectasia,...	OMIM:600376
Lowry-Wood Syndrome	Pigmentary retinopathy	OMIM:226960
Cohen Syndrome	Optic atrophy, Bull's eye maculopathy, Bone spicule pigmentation of the retina, Chorioretinal dys...	OMIM:216550
Bannayan-Riley-Ruvalcaba Syndrome	Telangiectasia, Abnormality of the optic nerve, Intracranial hemorrhage, Subcutaneous hemorrhage,...	ORPHA:109
Peroxisome Biogenesis Disorder 5A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia, Jaundice	OMIM:614866
Cleft Palate, Proliferative Retinopathy, And Developmental Delay	Retinal neovascularization	OMIM:619074
Peroxisome Biogenesis Disorder 2A (Zellweger)	Pigmentary retinopathy, Brushfield spots, Optic nerve dysplasia, Jaundice	OMIM:214110
Xeroderma Pigmentosum	Hypopigmented skin patches, Telangiectasia, Optic atrophy, Cutaneous photosensitivity, Freckling,...	ORPHA:910
Senior-Loken Syndrome 8	Macular atrophy	OMIM:616307
Multiple Sulfatase Deficiency	Cerebellar atrophy, Retinal degeneration, Cerebral atrophy	OMIM:272200
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Hypertrophic cardiomyopathy, Optic atrophy, Pigmentary retinopathy	OMIM:220110
Mitochondrial Trifunctional Protein Deficiency	Mitral regurgitation, Cardiomyopathy, Tricuspid regurgitation, Congestive heart failure, Pigmenta...	ORPHA:746
Usher Syndrome	Hypertrophic cardiomyopathy, Abnormal cardiovascular system physiology, Abnormality of retinal pi...	ORPHA:886
Pulmonary Hypertension, Primary, 1	Right ventricular failure, Telangiectasia, Hypertension, Pulmonary arterial hypertension, Elevate...	OMIM:178600
Axial Spondylometaphyseal Dysplasia	Retinal dystrophy, Peripheral retinal degeneration, Optic atrophy, Rod-cone dystrophy	ORPHA:168549
Ataxia-Telangiectasia-Like Disorder 1	Telangiectasia	OMIM:604391
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Hypertrophic cardiomyopathy, Optic atrophy, Pigmentary retinopathy	ORPHA:436271
Mucopolysaccharidosis, Type Ii	Papilledema, Abnormality of retinal pigmentation, Congestive heart failure	OMIM:309900
Pulmonary Arteriovenous Malformation	Telangiectasia, Palpitations, Epistaxis, Pulmonary arterial hypertension, Pulmonary hemorrhage, M...	ORPHA:2038
Scleroderma, Familial Progressive	Telangiectasia	OMIM:181750
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormality of visual evoked potentials	OMIM:617523
Xeroderma Pigmentosum, Complementation Group C	Telangiectasia, Cutaneous photosensitivity, Hypopigmentation of the skin	OMIM:278720
Oculocutaneous Albinism Type 1A	Abnormality of the optic nerve, Abnormality of visual evoked potentials, Hypoplasia of the fovea,...	ORPHA:79431
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Hypoautofluorescent retinal lesion, Retinal degeneration, Rod-cone dystrophy, Cafe-au-lait spot	OMIM:250410
Mastocytosis	Angioedema, Abnormality of skin pigmentation, Telangiectasia of the skin, Urticaria, Gastrointest...	ORPHA:98292
Pseudoxanthoma Elasticum, Forme Fruste	Cerebral hemorrhage, Retinal hemorrhage, Angina pectoris, Macular degeneration, Gastrointestinal ...	OMIM:177850
Livedoid Vasculopathy	Ecchymosis, Hypertension, Macular purpura, Hyperpigmentation of the skin, Telangiectasia of the s...	ORPHA:542643
Sting-Associated Vasculopathy, Infantile-Onset	Telangiectasia, Cutis marmorata, Erythema, Raynaud phenomenon	OMIM:615934
Neuromuscular Oculoauditory Syndrome	Chorioretinal lacunae, Retinal pigment epithelial mottling, Decreased nerve conduction velocity, ...	OMIM:618733
Fabry Disease	Hypertrophic cardiomyopathy, Hypertension, Optic atrophy, Mitral regurgitation, Atrioventricular ...	ORPHA:324
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Retinal degeneration, Abnormality of pattern visual evoked potentials	ORPHA:2822
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Telangiectasia	OMIM:615381
Autosomal Dominant Cerebellar Ataxia	Erythema, Retinal degeneration, Macular degeneration, Pigmentary retinopathy	ORPHA:99
Bardet-Biedl Syndrome 1	Hypertension, Aganglionic megacolon, Retinal degeneration, Retinal dystrophy, Hyperautofluorescen...	OMIM:209900
Xeroderma Pigmentosum, Variant Type	Telangiectasia, Cutaneous photosensitivity	OMIM:278750
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Prolonged QT interval, Hypertrophic cardiomyopathy, Pigmentary retinopathy	ORPHA:71212
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Abnormality of visual e...	OMIM:601455
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Parietal cortical atrophy, Corpus callosum atrophy, Cerebellar atrophy, Retinal atrophy	ORPHA:412057
Juvenile Dermatomyositis	Pericarditis, Cutaneous photosensitivity, Erythema, Telangiectasia of the skin, Cardiomyopathy, B...	ORPHA:93672
Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Retinal degeneration, Bull's eye maculopathy, Retinal flecks, Rod-cone dystrophy, ...	ORPHA:157850
Carcinoid Syndrome	Right ventricular failure, Facial telangiectasia, Palpitations, Tricuspid regurgitation, Heart mu...	ORPHA:100093
Hallermann-Streiff Syndrome	Telangiectasia, Hypertension, Chorioretinal coloboma, Pulmonary arterial hypertension, Optic disc...	OMIM:234100
Alstrom Syndrome	Dilated cardiomyopathy, Hypertension, Congestive heart failure, Pigmentary retinopathy, Cone/cone...	OMIM:203800
Autosomal Recessive Spastic Paraplegia Type 44	Abnormal auditory evoked potentials, Abnormality of somatosensory evoked potentials, Abnormality ...	ORPHA:320401
Systemic Sclerosis	Right ventricular failure, Syncope, Myocarditis, Telangiectasia, Pericarditis, Spotty hypopigment...	ORPHA:90291
Maternal Uniparental Disomy Of Chromosome 2	Retinal degeneration	ORPHA:96179
Maternal Uniparental Disomy Of Chromosome 4	Optic atrophy, Rod-cone dystrophy, Pigmentary retinopathy	ORPHA:96180
Prolidase Deficiency	Prolonged neonatal jaundice, Diffuse telangiectasia, Petechiae	OMIM:170100
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Vitiligo, Perifoveal ring of hyperautofluorescence, Pigmentary retinopathy	OMIM:240300
Mannosidosis, Alpha B, Lysosomal	Corpus callosum atrophy, Cerebellar atrophy, Retinal degeneration, Cerebral cortical atrophy	OMIM:248500
Xeroderma Pigmentosum, Complementation Group E	Telangiectasia, Cutaneous photosensitivity	OMIM:278740
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Telangiectasia of extensor surfaces, Fre...	OMIM:137940
Antiphospholipid Syndrome, Familial

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