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Article

A Novel Symptomatic Lecithin-Cholesterol Acyltransferase Gene Mutation With Corneal Amyloidosis.

Cornea - 1 Nov 2024

Abu Dail Yaser, Flockerzi Elias, Flockerzi Fidelis, Matthaei Mario, Cursiefen Claus, Seitz Berthold

Abstract excerpt

PURPOSE: To present ocular clinical, histological, systemic, and genetic findings of a patient with familial lecithin-cholesterol acyltransferase (LCAT) deficiency caused by a novel genetic variant of the LCAT gene associated with secondary corneal amyloidosis. METHODS: Case report. RESULTS: A 74-year-old woman presented with decreased visual acuity (VA), sensitivity to light, and progressive whitening of both...

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PMID: 39177400
DOI: 10.1097/ICO.0000000000003671

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