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


METHODS
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.
Scott
Andrew
A
Moorfields Eye Hospital, City Road, London, United Kingdom.
Strouthidis
Nicholas G
NG
Robson
Anthony G
AG
Forsyth
Joan
J
Maher
Eamonn R
ER
Schlottmann
Patricio G
PG
Michaelides
Michel
M
D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis / Q000235:genetics*; D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004596:Electroretinography; D019773:Epiretinal Membrane / Q000175:diagnosis / Q000235:genetics*; D005453:Fluorescence; D007839:Functional Laterality; D006801:Humans; D008297:Male; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D010641:Phenotype; D011956:Receptors, Cell Surface / Q000235:genetics*; D041623:Tomography, Optical Coherence
D018389:Codon, Nonsense; C000606236:PTCH1 protein, human; D000072079:Patched Receptors; D000072081:Patched-1 Receptor; D011956:Receptors, Cell Surface