A New Case and Comprehensive Review of the Ophthalmic Manifestations of 172 Individuals With Branchio-Oculo-Facial Syndrome

Abstract

Purpose: To review the literature on branchio-oculo-facial syndrome and describe a new case. Methods: A girl presented with a de novo pathogenic mutation in the TFAP2A gene consistent with branchiooculo-facial syndrome. A systematic review was also performed to characterize the eye manifestations associated with the syndrome. Results: A total of 172 total patients were identified from the literature. Among these, 102 patients received molecular confirmation. The most common pathogenic variants reported were p.R255G, p.A256V, p.R254W, and p.G251E. Common eye abnormalities associated with the syndrome in total combined cases (represents individuals with a clinical diagnosis only of branchiooculo-facial syndrome plus those who additionally had molecular confirmation of the syndrome from genetic testing) were nasolacrimal duct stenosis (n = 98, 57%), coloboma (n = 76, 46%), anophthalmia/microphthalmia (n = 64, 37%), and cataracts (n = 27, 16%). Conclusions: This analysis provides a comprehensive review of genetic variants and ophthalmic findings to characterize the most common eye manifestations associated with branchio-oculo-facial syndrome. The report provides incentive to further investigate TFAP2A variants and identify genotype-phenotype correlations. [ J Pediatr Ophthalmol Strabismus . 20XX;XX(X):XX–XX.]