Retinal dystrophy

Symptom Information:

Symptom ID: HPO:0000556
Synonyms:
Retinal dystrophy (disorder) [Orphanet:5330]
Retinal dysplasia (disorder) [Orphanet:5330]
Retinal Dystrophies [Orphanet:5330]
Retinal Dysplasia [Orphanet:5330]
Retinal dystrophy [OMIM:Retinal dystrophy]
Retinal/chorioretinal dysplasia/dystrophy [Orphanet:5330]
Retinal dystrophy [Orphanet:5330]
Retinal dystrophy [MedDRA:10038857]
Dystrophies primarily involving the retinal pigment epithelium [MedDRA:10038857]
Other dystrophies primarily involving the sensory retina [MedDRA:10038857]
Pigmentary retinal dystrophy [MedDRA:10038857]
Retinal dystrophies primarily involving Bruch's membrane [MedDRA:10038857]
Retinal dystrophy in other systemic disorders and syndromes [MedDRA:10038857]
Retinal dystrophy in systemic or cerebroretinal lipidoses [MedDRA:10038857]
Vitreoretinal dystrophies [MedDRA:10038857]
Retinal dysplasia (1 patient) [OMIM:Retinal dysplasia (1 patient)]
Retinal dysplasia (WWS) [OMIM:Retinal dysplasia (WWS)]
Retinal dysplasia (less common) [OMIM:Retinal dysplasia (less common)]
Retinal dystrophy (1 family) [OMIM:Retinal dystrophy (1 family)]
Retinal dystrophy (less common) [OMIM:Retinal dystrophy (less common)]
Retinal dystrophy (rare) [OMIM:Retinal dystrophy (rare)]
Retinal dystrophy (reported in 1 patient) [OMIM:Retinal dystrophy (reported in 1 patient)]
Retinal dystrophy (variable) [OMIM:Retinal dystrophy (variable)]
Quality:
Cross references:
HPO:0001135 "Chorioretinal dystrophy" [Orphanet:5330]
HPO:0007973 "Retinal dysplasia" [Orphanet:5330]
HPO:0007731 "Chorioretinal dysplasia" [Orphanet:5330]
Orphanet:5330 "Retinal/chorioretinal dysplasia/dystrophy" [Orphanet:5330]
OMIM: "Retinal dystrophy" [OMIM:Retinal dystrophy]
OMIM: "Retinal dysplasia (1 patient)" [OMIM:Retinal dysplasia (1 patient)]
OMIM: "Retinal dysplasia (WWS)" [OMIM:Retinal dysplasia (WWS)]
OMIM: "Retinal dysplasia (less common)" [OMIM:Retinal dysplasia (less common)]
OMIM: "Retinal dystrophy (1 family)" [OMIM:Retinal dystrophy (1 family)]
OMIM: "Retinal dystrophy (less common)" [OMIM:Retinal dystrophy (less common)]
OMIM: "Retinal dystrophy (rare)" [OMIM:Retinal dystrophy (rare)]
OMIM: "Retinal dystrophy (reported in 1 patient)" [OMIM:Retinal dystrophy (reported in 1 patient)]
OMIM: "Retinal dystrophy (variable)" [OMIM:Retinal dystrophy (variable)]
UMLS:C0854723 "Retinal Dystrophies" [Orphanet:5330]
UMLS:C0035313 "Retinal Dysplasia" [Orphanet:5330]
Is a (Direct Parents):
HPO         Abnormality of the retina
MedDRA Retinal structural change, deposit and degeneration
HPO         Cone dysfunction
Orphanet Retinopathy
HPO         Retinal dystrophy with early macular involvement
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of the eye(HPO:0000478)
          Abnormal eye morphology(HPO:0012372)
             Abnormality of the globe(HPO:0012374)
                Abnormality of the posterior segment of the globe(HPO:0004329)
                   Abnormality of the fundus(HPO:0001098)
                      Abnormality of the retina(HPO:0000479)
                         Retinal dystrophy(HPO:0000556)
MedDRA:
Eye disorders(MedDRA:10015919)
    Ocular structural change, deposit and degeneration NEC(MedDRA:10042261)
       Retinal structural change, deposit and degeneration(MedDRA:10038896)
          Retinal dystrophy(HPO:0000556)
Database Frequency: 65 / 7739
Resource:

All diseases associated with this symptom:

ARIMA SYNDROME (OMIM:243910)
Alström syndrome (Orphanet:64)
Amaurosis - hypertrichosis (Orphanet:1021)
Ataxia - hypogonadism - choroidal dystrophy (Orphanet:1180)
Autosomal recessive chorioretinopathy-microcephaly (Orphanet:2518)
Bardet-Biedl syndrome (Orphanet:110)
Bardet-Biedl syndrome 1 (OMIM:209900 )
Bardet-Biedl syndrome 10 (OMIM:615987)
Bardet-Biedl syndrome 12 (OMIM:615989)
Bardet-Biedl syndrome 16 (OMIM:615993)
Bardet-Biedl syndrome 5 (OMIM:615983)
Bardet-Biedl syndrome 6 (OMIM:605231)
Bardet-Biedl syndrome 7 (OMIM:615984)
Bothnia retinal dystrophy (Orphanet:85128)
CATARACT 16, MULTIPLE TYPES (OMIM:613763)
CLN11 disease (Orphanet:314629)
Cranioectodermal dysplasia (Orphanet:1515)
Cranioectodermal dysplasia 1 (OMIM:218330)
Donnai-Barrow syndrome (Orphanet:2143)
Familial drusen (Orphanet:75376)
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency (Orphanet:713)
Hypermethioninemia encephalopathy due to adenosine kinase deficiency (Orphanet:289290)
Infantile cerebellar-retinal degeneration (Orphanet:313850)
Joubert syndrome (Orphanet:475)
Joubert syndrome 1 (OMIM:213300)
Joubert syndrome 15 (OMIM:614464)
Joubert syndrome 16 (OMIM:614465)
Joubert syndrome 2 (OMIM:608091)
Joubert syndrome 21 (OMIM:615636)
Joubert syndrome 28 (OMIM:617121)
Joubert syndrome 3 (OMIM:608629)
Joubert syndrome with ocular defect (Orphanet:220493)
Joubert syndrome with oculorenal defect (Orphanet:2318)
Leber congenital amaurosis 10 (OMIM:611755)
Leber congenital amaurosis 11 (OMIM:613837)
Leber congenital amaurosis 13 (OMIM:612712)
MENTAL RETARDATION, TRUNCAL OBESITY, RETINAL DYSTROPHY, AND MICROPENISSYNDROME (OMIM:610156)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1 (OMIM:236670)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 (OMIM:253280)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 (OMIM:253800)
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 1 (OMIM:613155)
Maternally-inherited diabetes and deafness (Orphanet:225)
Microphthalmia with brain and digit anomalies (Orphanet:139471)
NEWFOUNDLAND ROD-CONE DYSTROPHY (OMIM:607476)
Nephronophthisis 1 (OMIM:256100)
Nephronophthisis 12 (OMIM:613820)
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY (OMIM:212550)
PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
PEROXISOME BIOGENESIS DISORDER 6B (OMIM:614871)
PEROXISOME BIOGENESIS DISORDER 7B (OMIM:614873)
PEROXISOME BIOGENESIS DISORDER 8B (OMIM:614877)
POLYCYSTIC KIDNEY, CATARACT, AND CONGENITAL BLINDNESS (OMIM:263100)
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
PORETTI-BOLTSHAUSER SYNDROME (OMIM:615960)
Progressive retinal dystrophy due to retinol transport defect (Orphanet:352718)
RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELLABNORMALITIES (OMIM:616079)
RETINAL DYSTROPHY, JUVENILE CATARACTS, AND SHORT STATURE SYNDROME (OMIM:616108)
RETINAL DYSTROPHY, RETICULAR PIGMENTARY, OF POSTERIOR POLE (OMIM:267800)
RETINOPATHY, PERICENTRAL PIGMENTARY, DOMINANT (OMIM:180210)
Roifman syndrome (Orphanet:353298)
Ruvalcaba syndrome (Orphanet:3121)
Senior-Loken syndrome 1 (OMIM:266900)
Senior-Loken syndrome 8 (OMIM:616307)
Senior-Loken syndrome 9 (OMIM:616629)
Syndromic microphthalmia type 5 (Orphanet:178364)