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Article

Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.

American journal of ophthalmology - 1 Feb 2007

Scott Andrew, Strouthidis Nicholas G, Robson Anthony G, Forsyth Joan, Maher Eamonn R, Schlottmann Patricio G, Michaelides Michel

Abstract excerpt

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...

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Source

Identifiers

PMID: 17258529
DOI: 10.1016/j.ajo.2006.09.022

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ERG

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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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