Bilateral Epiretinal Membrane in Gorlin yndrome Aociated With a Novel PTCH Mutation

Purpoe To preent the detailed ocular phenotype of a ubject with Gorlin yndrome (G) (baal cell nevu yndrome; OMIM 109400) and to undertake mutation creening of the gene Patched (PTCH). Deign Interventional cae report. Method Clinical examination, color fundu photography, fundu autofluorecence imaging, optical coherence tomography (OCT), detailed electrophyiological aement, and mutation creening of PTCH. The protocol of the tudy wa approved by the local Ethic Committee and informed conent wa obtained. Reult A 34-year-old man with finding conitent with G wa identified. Ophthalmocopy and OCT identified bilateral epiretinal membrane (ERM). Fundu autofluorecence (AF) imaging and electrophyiological teting [full-field electroretinogram (ERG), pattern ERG, and electrooculogram] were normal. Mutation creening identified a novel nonene mutation in PTCH (c.1136C > G; p.er383X), the gene aociated with G. Concluion We preent a cae of bilateral ERM in G with a molecular genetic diagnoi. We alo document data upporting the lack of focal or generalized retinal dyfunction.