A rare ocular phenotype associated with oculofaciocardiodental syndrome

Abstract Oculofaciocardiodental syndrome (OFCD) is a rare genetic disease affecting the ocular, facial, cardiac, and dental systems. This report describes a rare ocular phenotype in a 6-year-old female child who presented with a history of bilateral whitish appearance in the eyes, nystagmus, photoaversion, and reduced best-corrected visual acuity since birth. Ocular examination revealed broad peripheral iridocorneal adhesions and iris atrophic holes, resembling Axenfeld–Rieger spectrum, apart from the usual microcornea and congenital cataract. Extraocular features included a history of recurrent respiratory tract infections and failure to thrive in the early neonatal period, acyanotic heart disease with a large atrial septal defect, inability to supinate the right forearm since birth, asymmetric limbs, and mild facial dysmorphism. Whole-exome sequencing revealed a pathogenic nonsense variant (c. 4540C>T,p.Arg1514Ter) in BCOR gene. The BCOR gene, located on the X chromosome, is a zinc finger transcriptional repressor that plays a role in gene repression by interacting with DNA promoter regions and histone deacetylases. The precise mechanism by which the gene defect causes the ocular phenotype is poorly understood. The patient had features of anterior segment dysgenesis which has rarely been reported in OFCD. This report widens the genotypic spectrum of ASD and expands the phenotypic presentation of OFCD.