MCID: RTC011
MIFTS: 18

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 58

Characteristics:

Orphanet epidemiological data:

58
reticular dystrophy of the retinal pigment epithelium
Age of onset: Adult; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

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


HPO:

31
reticular dystrophy of retinal pigment epithelium:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Eye diseases
Orphanet: 58  
Rare eye diseases


External Ids:

OMIM® 57 179840
ICD10 via Orphanet 33 H35.5
UMLS via Orphanet 71 C1867332
Orphanet 58 ORPHA99002
MedGen 41 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) (Updated 05-Apr-2021)

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

Related Diseases for Reticular Dystrophy of Retinal Pigment Epithelium

Diseases related to Reticular Dystrophy of Retinal Pigment Epithelium via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 retinal dystrophy, reticular pigmentary, of posterior pole 10.3
2 retinal degeneration 10.3

Symptoms & Phenotypes for Reticular Dystrophy of Retinal Pigment Epithelium

Human phenotypes related to Reticular Dystrophy of Retinal Pigment Epithelium:

31
# Description HPO Frequency HPO Source Accession
1 nyctalopia 31 occasional (7.5%) HP:0000662
2 pigmentary retinopathy 31 HP:0000580
3 abnormal electrooculogram 31 HP:0030454

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
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 (Updated 05-Apr-2021)

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:

40
Eye, Retina

Publications for Reticular Dystrophy of Retinal Pigment Epithelium

Articles related to Reticular Dystrophy of Retinal Pigment Epithelium:

# Title Authors PMID Year
1
Reticular dystrophy of the retinal pigment epithelium. A clinical and electrophysiologic study of three generations. 57 61
666625 1978
2
Case of Sjögren reticular dystrophy. 57
17563005 2007
3
Patterned dystrophies of the retinal pigment epithelium. 57
843272 1977
4
Reticular dystrophy of the retinal pigment epithelium. 61
17588843 2007
5
Sjögren reticular dystrophy of the retinal pigment epithelium: a case report. 61
12841574 2003
6
[Maculopathy in Curschmann-Steinert myotonic dystrophy]. 61
12632995 2003
7
Indocyanine green angiographic interpretation of reticular dystrophy of the retinal pigment epithelium complicated by choroidal neovascularization. 61
12213170 2002
8
Reticular dystrophy of the retinal pigment epithelium and choroidal neovascularization. A fluorescein and ICGV study. 61
9088395 1997
9
[Unusual associations of pattern dystrophies]. 61
4008873 1985
10
Reticular dystrophy of the retinal pigment epithelium. Dystrophia reticularis laminae pigmentosa retinae of H. Sjogren. 61
5791502 1969

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 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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