Branchio-Oculo-Facial Syndrome and Coloboma

A young child presented with light perception visual acuity in the right eye and white cataract. Some dysmorphic features were also documented such as wide nasal tip, prominent philtral pillars, hypertelorism, telecanthus, right ptosis, and malformed pinnae on the right. Cataract extraction was performed along with exam under anesthesia which also revealed an iris coloboma, a right infra-auricular skin lesion along with the other features noted earlier. Fundus exam showed a chorioretinal coloboma involving the disc and the macula of the right eye and normal fundus in the left eye documented on fundus photos. Given the dysmorphic features and the presence of the chorioretinal coloboma, genetic testing was performed on peripheral blood sample. Results came back positive for a heterozygous mutation of the TFAP2A gene associated with a rare autosomal dominant condition described as Branchio-Oculo-Facial Syndrome (BOFS). Fewer than 150 individuals have well documented clinical and molecular diagnosis of BOFS. Noteworthy, the patient has two younger siblings with the same syndrome. Family history is also positive for BOFS in the mother and maternal grandmother. The objective of this case is to diagnose chorioretinal coloboma and know its differential diagnoses and complications such as retinal detachment. This case also highlights the importance of a systemic review and genetic testing to rule-in or rule-out associated syndromes such as CHARGE and BOFS.

Presentation Date: 03/03/2022

Issue Date: 03/18/2022