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Article

Ocular manifestations of SREBF1-associated hereditary mucoepithelial dysplasia.

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Feb 2025

Sambhariya Whitney Stuard, Doyle Jefferson, Kraus Courtney L

Abstract excerpt

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...

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PMID: 39603447
DOI: 10.1016/j.jaapos.2024.104059

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