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Article

Clinical characteristics of occult macular dystrophy in family with mutation of RP1l1 gene.

Retina (Philadelphia, Pa.) - 1 Jun 2012

Tsunoda Kazushige, Usui Tomoaki, Hatase Tetsuhisa, Yamai Satoshi, Fujinami Kaoru, Hanazono Gen, Shinoda Kei, Ohde Hisao, Akahori Masakazu, Iwata Takeshi, Miyake Yozo

Abstract excerpt

PURPOSE: To report the clinical characteristics of occult macular dystrophy (OMD) in members of one family with a mutation of the RP1L1 gene. METHODS: Fourteen members with a p.Arg45Trp mutation in the RP1L1 gene were examined. The visual acuity, visual fields, fundus photographs, fluorescein angiograms, full-field electroretinograms, multifocal electroretinograms, and optical coherence tomographic images were...

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Source

Identifiers

PMID: 22466457
DOI: 10.1097/IAE.0b013e318232c32e

Genes

OMD

Variants

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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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