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Article

Abnormal meibum is associated with SREBF1 mutation and IFAP Syndrome-2.

Experimental eye research - 1 Jan 2026

Butovich Igor A, Schatz Martha, Saboo Ujwala S, Wojtowicz Jadwiga C, Johnson Daniel A

Abstract excerpt

The X-linked Ichthyosis Follicularis, Alopecia, and Photophobia syndrome type-2 (IFAP-2), is a condition that has been linked to a c.1579C>T mutation in the SREBF1 gene. However, the molecular implications of the mutation in Meibomian glands (MG) remain unknown. The goals of our project were to elucidate the biochemical factors associated with IFAP-2 and develop approaches for unbiased diagnosing this condition....

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Identifiers

PMID: 41130335
DOI: 10.1016/j.exer.2025.110703
PMCID: PMC13537305

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

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