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

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

Research output: Contribution to journalArticlepeer-review

Abstract

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 = 15) using the standard salting-out procedure. Results: The novel C165R mutation was identified in 8 individuals. Of these 8 patients, only 6 gave consent to the clinical study. They had a retinal disease characterized by an adulthood onset of symptoms, and their best corrected visual acuity was between 20/50 and 20/20. Fundus examination showed that 3 patients had typical fundus flavimaculatus: 1 had butterfly-shaped pattern dystrophy and 2 had incipient retinal changes. Conclusion: We identified a novel mutation of the retinal degeneration slow/peripherin gene in a family affected by different patterns of retinal dystrophy. This is the first report of an association of fundus flavimaculatus with butterfly-shaped pattern dystrophy.

Original languageEnglish
Pages (from-to)255-259
Number of pages5
JournalOphthalmic Research
Volume39
Issue number5
DOIs
Publication statusPublished - Oct 2007

Keywords

  • Butterfly-shaped pattern dystrophy
  • Fundus flavimaculatus
  • Retinal degeneration slow mutation

ASJC Scopus subject areas

  • Ophthalmology

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