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Article

OCCULT MACULAR DYSTROPHY WITH MUTATIONS IN THE RP1L1 AND KCNV2 GENES.

Retinal cases & brief reports - 1 Jan 2000

Agange Negin, Sarraf David

Abstract excerpt

PURPOSE: To report a case of occult macular dystrophy associated with mutations in the RP1L1 and KCNV2 genes. METHODS: Case report. Multimodal retinal imaging and the results of genetic testing are described. RESULTS: A 27-year-old Chinese man presented with complaints of decreased central vision and normal retinal examination. Color fundus photography and fundus autofluorescence were unremarkable....

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Source

Identifiers

PMID: 27579568
DOI: 10.1097/ICB.0000000000000406

Genes

KCNV2

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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