KEGG   DISEASE: Occult macular dystrophyHelp
H01010                      Disease                                

Occult macular dystrophy
Macular dystrophy [DS:H01770]
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.
Nervous system disease
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
RP1L1 [HSA:94137] [KO:K19538]
Other DBs
ICD-11: 9B75.Y
ICD-10: H35.5
OMIM: 613587
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
Dominant mutations in RP1L1 are responsible for occult macular dystrophy.
Am J Hum Genet 87:424-9 (2010)
Fujinami K, Tsunoda K, Hanazono G, Shinoda K, Ohde H, Miyake Y
Fundus autofluorescence in autosomal dominant occult macular dystrophy.
Arch Ophthalmol 129:597-602 (2011)

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