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Article

Intrafamilial clinical heterogeneity associated with a novel mutation of the retinal degeneration slow/peripherin gene.

Ophthalmic research - 1 Jan 2007

Simonelli Francesca, Testa Francesco, Marini Valeria, Interlandi Emanuela, Rossi Settimio, Pognuz Derri Roman, Virgili Gianni, Garrè Cecilia, Bandello Francesco

Abstract excerpt

AIMS: To identify the phenotypic variations in 6 related individuals affected by a novel mutation in the retinal degeneration slow/peripherin gene. METHODS: Ten family members underwent ophthalmologic assessment with slit-lamp biomicroscopy, dilated fundus examination, fundus photography, autofluorescence imaging and electrophysiological tests. Genomic DNA was extracted from blood samples of all family members (n...

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Identifiers

PMID: 17851265
DOI: 10.1159/000108118

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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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