Recurrent Vascularizing Keratitis in Infants With Hereditary Mucoepithelial Dysplasia Related to SREBF1 Mutation

Abstract

Purpose: This study aims to present ophthalmic manifestations of 2 infants with hereditary mucoepithelial dysplasia (HMD) related to SREBF1 mutation over a 5-year period. Methods: Two female infants with an unremarkable perinatal history were evaluated for photophobia that had been manifest since 3 months after birth and diffuse scalp alopecia. Complete ocular examinations under anesthesia were performed, as well as genetic and systemic workup. Results: Both patients had vascularizing keratitis in both eyes, characterized by the growth of corneal new vessels from the 360 degrees periphery to the center and the formation of stromal leucomatous opacity at the leading edge. The keratitis partially regressed in response to topical corticosteroids and waxed and waned during the 5 years of follow-up. In addition, the loss of scalp hair developed in a cyclical pattern, causing diffuse scalp alopecia in the patients. Rheumatologic, nutritional, and developmental evaluations were within normal ranges. Whole-exome sequencing identified a heterozygous c.1669C>T (p.Arg557Cys) pathogenic variant in the SREBF1 gene associated with HMD in both patients. Conclusions: In pediatric patients with recurrent vascularizing keratitis and diffuse scalp alopecia starting early in life, HMD should be considered, and genetic tests and collaboration with dermatologists and pediatricians on the diagnosis should be provided.