Bilateral epiretinal membranes in Gorlin syndrome associated with a novel PTCH mutation.
Am J Ophthalmol
; 143(2): 346-8, 2007 Feb.
Article
em En
| MEDLINE
| ID: mdl-17258529
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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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome do Nevo Basocelular
/
Receptores de Superfície Celular
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Códon sem Sentido
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Membrana Epirretiniana
Tipo de estudo:
Diagnostic_studies
/
Guideline
/
Risk_factors_studies
Aspecto:
Ethics
Limite:
Adult
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Humans
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Male
Idioma:
En
Revista:
Am J Ophthalmol
Ano de publicação:
2007
Tipo de documento:
Article
País de afiliação:
Reino Unido
País de publicação:
EEUU
/
ESTADOS UNIDOS
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ESTADOS UNIDOS DA AMERICA
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EUA
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UNITED STATES
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UNITED STATES OF AMERICA
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US
/
USA