MCID: RTC011
MIFTS: 15

Reticular Dystrophy of Retinal Pigment Epithelium

Categories: Eye diseases, Rare diseases

Aliases & Classifications for Reticular Dystrophy of Retinal Pigment Epithelium

MalaCards integrated aliases for Reticular Dystrophy of Retinal Pigment Epithelium:

Name: Reticular Dystrophy of Retinal Pigment Epithelium 57
Reticular Dystrophy of the Retinal Pigment Epithelium 59

Characteristics:

Orphanet epidemiological data:

59
reticular dystrophy of the retinal pigment epithelium
Age of onset: Adult; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial and even intrapatient variability has been observed in patterned retinal dystrophy


HPO:

32
reticular dystrophy of retinal pigment epithelium:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 59  
Rare eye diseases


External Ids:

OMIM 57 179840
Orphanet 59 ORPHA99002
ICD10 via Orphanet 34 H35.5
UMLS via Orphanet 74 C1867332
MedGen 42 C1867332

Summaries for Reticular Dystrophy of Retinal Pigment Epithelium

OMIM : 57 Reticular dystrophy is a disorder of protean manifestations occurring in the retinal pigment epithelium (RPE) with little or no involvement of the neurosensory retina. The disorder may be detected at an early age and may be slowly progressive, but the prognosis for visual acuity is good. Abnormalities of dark adaptation and nyctalopia may develop with time. Electrophysiologic testing may show a normal electroretinogram (ERG), subnormal electrooculogram (EOG), and subnormal results of dark adaptation studies (summary by Kingham et al., 1978). (179840)

MalaCards based summary : Reticular Dystrophy of Retinal Pigment Epithelium, is also known as reticular dystrophy of the retinal pigment epithelium. An important gene associated with Reticular Dystrophy of Retinal Pigment Epithelium is RCBTB1 (RCC1 And BTB Domain Containing Protein 1). Affiliated tissues include testes, retina and eye, and related phenotypes are nyctalopia and pigmentary retinopathy

Related Diseases for Reticular Dystrophy of Retinal Pigment Epithelium

Symptoms & Phenotypes for Reticular Dystrophy of Retinal Pigment Epithelium

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
good visual acuity
abnormal dark adaptation
nyctalopia (in some patients)
reticular 'fishnet-with-knots' dystrophy of retinal pigment epithelium (rpe)
posterior pattern of retinal pigment clumping
more

Clinical features from OMIM:

179840

Human phenotypes related to Reticular Dystrophy of Retinal Pigment Epithelium:

32
# Description HPO Frequency HPO Source Accession
1 nyctalopia 32 occasional (7.5%) HP:0000662
2 pigmentary retinopathy 32 HP:0000580
3 abnormal electrooculogram 32 HP:0030454

Drugs & Therapeutics for Reticular Dystrophy of Retinal Pigment Epithelium

Search Clinical Trials , NIH Clinical Center for Reticular Dystrophy of Retinal Pigment Epithelium

Genetic Tests for Reticular Dystrophy of Retinal Pigment Epithelium

Anatomical Context for Reticular Dystrophy of Retinal Pigment Epithelium

MalaCards organs/tissues related to Reticular Dystrophy of Retinal Pigment Epithelium:

41
Testes, Retina, Eye

Publications for Reticular Dystrophy of Retinal Pigment Epithelium

Variations for Reticular Dystrophy of Retinal Pigment Epithelium

Expression for Reticular Dystrophy of Retinal Pigment Epithelium

Search GEO for disease gene expression data for Reticular Dystrophy of Retinal Pigment Epithelium.

Pathways for Reticular Dystrophy of Retinal Pigment Epithelium

GO Terms for Reticular Dystrophy of Retinal Pigment Epithelium

Sources for Reticular Dystrophy of Retinal Pigment Epithelium

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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