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Article

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

Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus - 1 Oct 2024

Feizi Sepehr, Tahavvori Mohammadreza, Hosseini Seyed-Bagher, Espandar Goldis, Torbati Peyman Mohammadi, Esfandiari Hamed

Abstract excerpt

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...

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PMID: 39278528
DOI: 10.1016/j.jaapos.2024.103997

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