Ocular manifestations of SREBF1-associated hereditary mucoepithelial dysplasia

Abstract

Hereditary mucoepithelial dysplasia (HMD) is a rare autosomal dominant dysplastic dyskeratotic epithelial syndrome caused by pathogenic variants in the SREBF1 gene. This syndrome is associated with a variety of ocular conditions, including cataracts, nystagmus, keratitis, meibomian gland dysfunction (MGD), and decreased visual acuity. We report the case of a boy followed from 1 to 7 years of age who had a confirmed HMD-associated variant in the SREBF1 gene. The patient has severe MGD, with resulting keratitis and photosensitivity, and bilateral glaucoma, which has not previously been reported in association with HMD. The gene affected in HMD negatively affects gap junctions and lipid biosynthesis, which are important in the stability of the trabecular meshwork.