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Article

Mutations in the peripherin/RDS gene are an important cause of multifocal pattern dystrophy simulating STGD1/fundus flavimaculatus.

The British journal of ophthalmology - 1 Nov 2007

Boon Camiel J F, van Schooneveld Mary J, den Hollander Anneke I, van Lith-Verhoeven Janneke J C, Zonneveld-Vrieling Marijke N, Theelen Thomas, Cremers Frans P M, Hoyng Carel B, Klevering B Jeroen

Abstract excerpt

AIM: To describe the phenotype and to analyse the peripherin/RDS gene in 10 unrelated families with multifocal pattern dystrophy simulating Stargardt disease (STGD1). METHODS: The probands of 10 families and 20 affected family members underwent an ophthalmic examination including dilated fundus examination, fundus autofluorescence imaging and optical coherence tomography (OCT). In all probands and in selected...

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Identifiers

PMID: 17504850
DOI: 10.1136/bjo.2007.115659
PMCID: PMC2095453

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Source receipt: pubmed, retrieved 7 Sept 2026.

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