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Article

Dominant mutations in RP1L1 are responsible for occult macular dystrophy.

American journal of human genetics - 10 Sept 2010

Akahori Masakazu, Tsunoda Kazushige, Miyake Yozo, Fukuda Yoko, Ishiura Hiroyuki, Tsuji Shoji, Usui Tomoaki, Hatase Tetsuhisa, Nakamura Makoto, Ohde Hisao, Itabashi Takeshi, Okamoto Haru, Takada Yuichiro, Iwata Takeshi

Abstract excerpt

Occult macular dystrophy (OMD) is an inherited macular dystrophy characterized by progressive loss of macular function but normal ophthalmoscopic appearance. Typical OMD is characterized by a central cone dysfunction leading to a loss of vision despite normal ophthalmoscopic appearance, normal fluorescein angiography, and normal full-field electroretinogram (ERGs), but the amplitudes of the focal macular ERGs and...

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Source

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Identifiers

PMID: 20826268
DOI: 10.1016/j.ajhg.2010.08.009
PMCID: PMC2933341

Genes

OMD
GATA4
MSRA
PCM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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