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CLINICAL FEATURES IN A CASE OF OCCULT MACULAR DYSTROPHY WITH RP1L1 MUTATION.

Retinal cases & brief reports - 1 Jan 2000

Fu Yun, Chen Kuan-Jen, Lai Chi-Chun, Wu Wei-Chi, Wang Nan-Kai

Abstract excerpt

PURPOSE: To investigate appropriate diagnostic testing for occult macular dystrophy (OMD) in a patient with unexplained progressive visual loss. METHODS: Observational case report. RESULTS: Occult macular dystrophy is an uncommon autosomal dominant macular disease, but sporadic occurrences have been noted. We report a patient with progressive visual decline, but with normal findings in fundus photography, visual...

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PMID: 28195981
DOI: 10.1097/ICB.0000000000000548

Genes

OMD

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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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