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Article

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.

Ophthalmic genetics - 1 Dec 1996

Piguet B, Héon E, Munier F L, Grounauer P A, Niemeyer G, Butler N, Schorderet D F, Sheffield V C, Stone E M

Abstract excerpt

The objective of this study was to fully characterize the macular dystrophy phenotype and genotype in a large family of the Zermatt area of Switzerland. Clinical and molecular studies of the family included a comprehensive eye examination and a mutational analysis of the RDS, rhodopsin, and TIMP-3 genes. In selected cases, fluorescein angiography, perimetry, and electroretinography were performed. Forty-two...

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Identifiers

PMID: 9010868
DOI: 10.3109/13816819609057891

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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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Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.PMID 9010868Read ↗

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