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Bilateral Epiretinal Membranes in Gorlin Syndrome Associated With a NovelPTCHMutation

Authors
Journal
American Journal of Ophthalmology
0002-9394
Publisher
Elsevier
Publication Date
Volume
143
Issue
2
Identifiers
DOI: 10.1016/j.ajo.2006.09.022
Keywords
  • Brief Reports
Disciplines
  • Biology
  • Medicine

Abstract

Purpose To present the detailed ocular phenotype of a subject with Gorlin syndrome (GS) (basal cell nevus syndrome; OMIM 109400) and to undertake mutation screening of the gene Patched ( PTCH). Design Interventional case report. Methods Clinical examination, color fundus photography, fundus autofluorescence imaging, optical coherence tomography (OCT), detailed electrophysiological assessment, and mutation screening of PTCH. The protocol of the study was approved by the local Ethics Committee and informed consent was obtained. Results A 34-year-old man with findings consistent with GS was identified. Ophthalmoscopy and OCT identified bilateral epiretinal membranes (ERMs). Fundus autofluorescence (AF) imaging and electrophysiological testing [full-field electroretinogram (ERG), pattern ERG, and electrooculogram] were normal. Mutation screening identified a novel nonsense mutation in PTCH (c.1136C > G; p.Ser383X), the gene associated with GS. Conclusions We present a case of bilateral ERM in GS with a molecular genetic diagnosis. We also document data supporting the lack of focal or generalized retinal dysfunction.

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