Bilateral Epiretinal Membranes in Gorlin Syndrome Associated With a Novel PTCH Mutation

详细信息	查看全文 | 推荐本文 |

• 作者：Andrew Scott ; Nicholas G. Strouthidis ; Anthony G. Robson ; Joan Forsyth ; Eamonn R. Maher ; Patricio G. Schlottmann ; Michel Michaelides
• 刊名：American Journal of Ophthalmology
• 出版年：2007
• 期刊代码：7_00029394
• 类别：med
• 出版时间：February 2007
• 卷：143
• 期：2
• 页码：346-348
• 文件大小：562 K

摘要

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.