Long-term follow-up of ocular involvement in hereditary mucoepithelial dysplasia

Abstract

An 11-month-old boy with nonscarring alopecia was referred for ophthalmic evaluation because of photophobia from the age of 4 months. Whole-exome sequencing identified a heterozygous mutation in the SREBF1 gene, confirming the diagnosis of hereditary mucoepithelial dysplasia. Ocular examination revealed meibomian gland dysfunction and superficial corneal vascularization and opacity. Impression cytology of the sclerocorneal limbus revealed atypical epithelial cells. The patient received treatment for meibomian gland dysfunction, dry eye, and ocular surface inflammation. With appropriate management and close follow-up over 7 years, corneal opacity improved greatly.