Ocular manifestations in Gorlin-Goltz syndrome

• Published in: Orphanet journal of rare diseases Vol. 14; no. 1; p. 218
• Main Authors: Moramarco, Antonietta, Himmelblau, Ehud, Miraglia, Emanuele, Mallone, Fabiana, Roberti, Vincenzo, Franzone, Federica, Iacovino, Chiara, Giustini, Sandra, Lambiase, Alessandro
• Format: Journal Article
• Language: English
• Published: England BioMed Central Ltd 18-09-2019; BioMed Central; BMC
• Subjects: Basal cell carcinoma; Basal cell nevus syndrome; Cancer; Carcinoma; Care and treatment; Cataracts; Cell division; Chromosomes; Defects; Diagnosis; Etiology; Etiology (Medicine); Eye manifestations; Genes; Genetic disorders; Genetic variation; Geographical variations; Gorlin syndrome; Gorlin-Goltz syndrome; Ionizing radiation; Medical research; Mutation; Myelinated optical nerve fiber layers; Nevoid basal cell carcinoma syndrome; Nystagmus; Ocular anomalies; Odontogenic keratocyst; Optic nerve; Optics; Patients; Rare diseases; Risk factors; Signal transduction; Skin cancer; Strabismus; Tumors; Italy; Gorlin-Goltz syndrome; Gorlin syndrome; Ocular anomalies; Odontogenic keratocyst; Myelinated optical nerve fiber layers; Nevoid basal cell carcinoma syndrome
• ISSN: 1750-1172; 1750-1172
• DOI: 10.1186/s13023-019-1190-6

Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is a rare genetic disorder that is transmitted in an autosomal dominant manner with complete penetrance and variable expressivity. It is caused in 85% of the cases with a known etiology by pathogenic variants in the PTCH1 gene, and is characterized by a wide range of developmental abnormalities and a predisposition to multiple neoplasms. The manifestations are multiple and systemic and consist of basal cell carcinomas in various regions, odontogenic keratocistic tumors and skeletal anomalies, to name the most frequent. Despite the scarce medical literature on the topic, ocular involvement in this syndrome is frequent and at the level of various ocular structures. Our study focuses on the visual apparatus and its annexes in subjects with this syndrome, in order to better understand how this syndrome affects the ocular system, and to evaluate with greater accuracy and precision the nature of these manifestations in this group of patients.
Our study confirms the presence of the commonly cited ocular findings in the general literature regarding the syndrome [hypertelorism (45.5%), congenital cataract (18%), nystagmus (9%), colobomas (9%)] and highlights strabismus (63% of the patients), epiretinal membranes (36%) and myelinated optic nerve fiber layers (36%) as the most frequent ophthalmological findings in this group of patients.
The presence of characteristic and frequent ocular signs in the Gorlin- Goltz syndrome could help with the diagnostic process in subjects suspected of having the syndrome who do not yet have a diagnosis. The ophthalmologist has a role as part of a multidisciplinary team in managing these patients. The ophthalmological follow-up that these patients require, can allow, if necessary, a timely therapy that could improve the visual prognosis of such patients.