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Article

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

Cornea - 1 Dec 2023

Kim Seonghwan, Jeong Hyunchul, Ko Jung Min, Kwon Ohsang, Oh Joo Youn

Abstract excerpt

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...

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PMID: 37699567
DOI: 10.1097/ICO.0000000000003381

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