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Article

Phenotypic intrafamilial variability associated with S212G mutation in the RDS/peripherin gene.

European journal of ophthalmology - 1 Jan 2000

Passerini I, Sodi A, Giambene B, Menchini U, Torricelli F

Abstract excerpt

PURPOSE: To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene. This mutation has already been reported in patients with retinitis pigmentosa, but it has never been previously detected in association with adult onset vitelliform macular dystrophy. METHODS: A...

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Source

Identifiers

PMID: 18050133
DOI: 10.1177/112067210701700624

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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