Review of Ocular Manifestations of Nevoid Basal Cell Carcinoma Syndrome: What an Ophthalmologist Needs to Know. Middle East Afr J Ophthalmol 2015;22(4):421-7
Date
12/23/2015Pubmed ID
26692711Pubmed Central ID
PMC4660526DOI
10.4103/0974-9233.167815Scopus ID
2-s2.0-84945920029 (requires institutional sign-in at Scopus site) 17 CitationsAbstract
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.
Author List
Chen JJ, Sartori J, Aakalu VK, Setabutr PAuthor
Vinay Kumar Aakalu MPH, MD Chair, Professor in the Ophthalmology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
AdultBasal Cell Nevus Syndrome
Biopsy
Eyelid Neoplasms
Humans
Male
Quality of Life
Tomography, X-Ray Computed
