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Article

Characterizing the phenotype and genotype of a family with occult macular dystrophy.

Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Dec 2012

Chen Connie J, Scholl Hendrik P N, Birch David G, Iwata Takeshi, Miller Neil R, Goldberg Morton F

Abstract excerpt

OBJECTIVE: To characterize the phenotype of a white patient with occult macular dystrophy (OMD) and her clinically unaffected family members and to determine whether similar mutations were present in the RP1L1 gene in this family. Occult macular dystrophy is a rare macular dystrophy with central cone dysfunction hidden behind a normal fundus appearance that has been attributed to a mutation in the retinitis...

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Identifiers

PMID: 23229695
DOI: 10.1001/archophthalmol.2012.2683
PMCID: PMC4114073

Genes

OMD

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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