PURPOSE
To report a case of BCOR-related congenital hypertrophy of the retinal pigment epithelium (CHRPE), which has not been well-documented within the literature.
BACKGROUND
CHRPE is a usually benign hamartoma occurring within the retinal pigment epithelium. While isolated CHRPE can be seen in the general population, bilateral or multifocal CHRPE lesions with an irregular shape are often seen with Familial Attenuated Polyposis (FAP). An association between CHRPE and the BCOR gene associated with X-linked Microphthalmia, syndromic 2, a spectrum disorder which includes oculofaciocardiodental (OFCD) syndrome, has been reported in the literature. However, these instances are scant. Here, we describe a patient tested in our laboratory with CHRPE and clinical features suggestive of OFCD that was identified to have a likely pathogenic variant within the BCOR gene.
