Branchio-oculo-facial (BOF) syndrome is an autosomal dominant inherited syndrome that typically presents with branchial cleft sinus defects, ocular anomalies and dysmorphic facial appearance. The authors present a new case alongside the results of a literature review describing the common genetic variants and ophthalmic findings. Their case was a girl with a de-novo pathogenic mutation in the TFAPZA gene. Their review identified a total of 172 patients with 70 having clinical diagnosis based on clinical findings and 102 with added molecular diagnosis through genetic testing. Females were affected more than males. Common eye findings included nasolacrimal duct stenosis, coloboma, anophthalmia, microphthalmia, cataract, strabismus and myopia. Less common findings included hypertelorism, small palpebral fissure, telecanthus, up slanting palpebral fissure, ptosis and dermoid cyst. The findings among clinical vs molecular diagnoses were similar and therefore, cases identified by clinical suspicion alone without genetic testing are likely to be accurate. The authors did not observe any clear genotype-phenotype correlations in the literature and further research is needed to investigate TFAPZA variants.
Features of branchio-oculo-facial syndrome
Reviewed by Fiona Rowe
A new case of comprehensive review of the ophthalmic manifestations of 172 individuals with branchio-oculo-facial syndrome.
CONTRIBUTOR
Fiona Rowe (Prof)
Institute of Population Health, University of Liverpool, UK.
View Full Profile
