KEGG DISEASE: Occult macular dystrophy

KEGG

DISEASE: Occult macular dystrophy

Entry

H01010                      Disease

Name

Occult macular dystrophy

Supergrp

Macular dystrophy [DS:H01770]

Description

Occult macular dystrophy (OMD) is an inherited or sporadic macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Patients with OMD have normal full-field electroretinograms (ERGs), but the focal macular ERGs (FMERGs) and multifocal ERGs are abnormal. OMD is inherited as an autosomal dominant trait. However, patients with sporadic disease have been also reported. Mutations in RP1L1 gene, which plays essential roles in the cone functions, are responsible for OMD.

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
    9B75  Macular disorders
     H01010  Occult macular dystrophy

Gene

RP1L1 [HSA:94137] [KO:K19538]

Other DBs

ICD-11:

OMIM:

Reference

Authors

Akahori M, Tsunoda K, Miyake Y, Fukuda Y, Ishiura H, Tsuji S, Usui T, Hatase T, Nakamura M, Ohde H, Itabashi T, Okamoto H, Takada Y, Iwata T

Title

Dominant mutations in RP1L1 are responsible for occult macular dystrophy.

Journal

Am J Hum Genet 87:424-9 (2010)
DOI:10.1016/j.ajhg.2010.08.009

Reference

Authors

Fujinami K, Tsunoda K, Hanazono G, Shinoda K, Ohde H, Miyake Y

Title

Fundus autofluorescence in autosomal dominant occult macular dystrophy.

Journal

Arch Ophthalmol 129:597-602 (2011)
DOI:10.1001/archophthalmol.2011.96

LinkDB

» Japanese version

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