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Clinical and genetic characteristics of Korean occult macular dystrophy patients.

Investigative ophthalmology & visual science - 18 Jul 2013

Ahn Seong Joon, Cho Sung Im, Ahn Jeeyun, Park Sung Sup, Park Kyu Hyung, Woo Se Joon

Abstract excerpt

PURPOSE: We investigated the genetic characteristics of retinitis pigmentosa 1-like 1 (RP1L1) gene in patients with occult macular dystrophy (OMD) and identified genotype-phenotype correlations. METHODS: We sequenced the entire exons and flanking regions of the RP1L1 gene in 19 Korean OMD patients. Detailed retinal morphologic abnormalities were evaluated using spectral domain optical coherence tomography and...

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Identifiers

PMID: 23745001
DOI: 10.1167/iovs.13-11643

Genes

OMD

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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