title: Review of Ocular Manifestations of Nevoid Basal Cell Carcinoma Syndrome: What an Ophthalmologist Needs to Know.
abstract: Nevoid basal cell carcinoma syndrome (NBCCS) is a rare, autosomal dominant disorder characterized by multiple basal cell carcinomas (BCCs), odontogenic keratocysts, palmar and/or plantar pits, and ectopic calcifications of the falx cerebri. Myriad ophthalmologic findings are associated with NBCCS, including periocular BCCs, hypertelorism, strabismus, myelinated nerve fibers, and disorders of the retina and retinal pigment epithelium. We performed a literature search in PubMed for articles on the ophthalmologic manifestations of Gorlin syndrome, published between 1984 and 2014. Of 33 papers, 31 were included. Although Gorlin syndrome is due to mutations in a single gene, it displays variable phenotypic expressivity. Therefore, familiarity with this disorder across clinical specialties is necessary to avoid misdiagnosis. The ophthalmologist should be included in the multidisciplinary team for the management of Gorlin syndrome in order to prevent visual loss and improve the quality of life of these patients.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Illinois Eye Institute, University of Illinois at Chicago, Chicago, Illinois, USA.
authors.forename: Judy J
authors.initials: JJ
authors.lastname: Chen
authors.affiliation: Department of Ophthalmology and Visual Sciences, Illinois Eye Institute, University of Illinois at Chicago, Chicago, Illinois, USA ; Department of Ophthalmology and Visual Sciences, Paulista School of Medicine, Federal University of Sao Paulo-UNIFESP, Sao Paulo, Brazil.
authors.forename: Juliana
authors.initials: J
authors.lastname: Sartori
authors.affiliation: Department of Ophthalmology and Visual Sciences, Illinois Eye Institute, University of Illinois at Chicago, Chicago, Illinois, USA.
authors.forename: Vinay K
authors.initials: VK
authors.lastname: Aakalu
authors.affiliation: Department of Ophthalmology and Visual Sciences, Illinois Eye Institute, University of Illinois at Chicago, Chicago, Illinois, USA.
authors.forename: Pete
authors.initials: P
authors.lastname: Setabutr
mesh_terms: D000328:Adult; D001478:Basal Cell Nevus Syndrome / Q000175:diagnosis*; D001706:Biopsy; D005142:Eyelid Neoplasms / Q000175:diagnosis*; D006801:Humans; D008297:Male; D011788:Quality of Life; D014057:Tomography, X-Ray Computed
keywords: Basal Cell Carcinoma; Gorlin Syndrome; Ocular