KEGG DISEASE: Vitelliform macular dystrophy

KEGG

DISEASE: Vitelliform macular dystrophy

Entry

H00814                      Disease

Name

Vitelliform macular dystrophy

Subgroup

Best disease / Juvenile vitelliform macular dystrophy (VMD2)
Adult-onset vitelliform macular dystrophy (AVMD)
Autosomal recessive bestrophinopathy (ARB)

Supergrp

Macular dystrophy [DS:H01770]

Description

Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular dystrophy (VMD2) is less than 30 years of age in most cases, whereas the onset of Adult-onset vitelliform macular dystrophy (AVMD) is between 30 and 50 years accompanied by slowly progressive visual loss.

Category

Nervous system disease

Brite

Human diseases in ICD-11 classification [BR:br08403]
09 Diseases of the visual system
  Disorders of the eyeball posterior segment
   Disorders of the retina
    9B70  Inherited retinal dystrophies
     H00814  Vitelliform macular dystrophy
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06541  Cytoskeleton in neurons
   H00814  Vitelliform macular dystrophy

Network

nt06541 Cytoskeleton in neurons

Gene

(VMD2/ AVMD/ ARB) BEST1 [HSA:7439] [KO:K13878]
(VMD3/ AVMD) PRPH2 [HSA:5961] [KO:K17343]
(VMD4) IMPG1 [HSA:3617] [KO:K19016]
(VMD5) IMPG2 [HSA:50939] [KO:K19017]

Other DBs

ICD-11:

MeSH:

OMIM:

153840 153700 608161 616151 616152 611809

Reference

PMID:9662395 (BEST1)

Authors

Petrukhin K, Koisti MJ, Bakall B, Li W, Xie G, Marknell T, Sandgren O, Forsman K, Holmgren G, Andreasson S, Vujic M, Bergen AA, McGarty-Dugan V, Figueroa D, Austin CP, Metzker ML, Caskey CT, Wadelius C

Title

Identification of the gene responsible for Best macular dystrophy.

Journal

Nat Genet 19:241-7 (1998)
DOI:10.1038/915

Reference

PMID:8485576 (PRPH2)

Authors

Wells J, Wroblewski J, Keen J, Inglehearn C, Jubb C, Eckstein A, Jay M, Arden G, Bhattacharya S, Fitzke F, et al.

Title

Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.

Journal

Nat Genet 3:213-8 (1993)
DOI:10.1038/ng0393-213

Reference

PMID:23993198 (IMPG1)

Authors

Manes G, Meunier I, Avila-Fernandez A, Banfi S, Le Meur G, Zanlonghi X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FP, Hollyfield JG, Senechal A, Hebrard M, Bocquet B, Ayuso Garcia C, Hamel CP

Title

Mutations in IMPG1 cause vitelliform macular dystrophies.

Journal

Am J Hum Genet 93:571-8 (2013)
DOI:10.1016/j.ajhg.2013.07.018

Reference

PMID:25085631 (IMPG2)

Authors

Meunier I, Manes G, Bocquet B, Marquette V, Baudoin C, Puech B, Defoort-Dhellemmes S, Audo I, Verdet R, Arndt C, Zanlonghi X, Le Meur G, Dhaenens CM, Hamel CP

Title

Frequency and clinical pattern of vitelliform macular dystrophy caused by mutations of interphotoreceptor matrix IMPG1 and IMPG2 genes.

Journal

Ophthalmology 121:2406-14 (2014)
DOI:10.1016/j.ophtha.2014.06.028

LinkDB

» Japanese version

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