KEGG   DISEASE: Occult macular dystrophyHelp
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 [BR:br08402]
 Nervous system diseases
  Eye disease
   H01010  Occult macular dystrophy
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
BRITE hierarchy
Gene
RP1L1 [HSA:94137] [KO:K19538]
Other DBs
ICD-11: 9B75.Y
ICD-10: H35.5
OMIM: 613587
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

» Japanese version

DBGET integrated database retrieval system