Mol Genet Metab Rep. 2026 May 14;47:101318. doi: 10.1016/j.ymgmr.2026.101318. eCollection 2026 Jun.
ABSTRACT
Fabry disease is a rare X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency, leading to globotriaosylceramide accumulation in multiple organs, including the eye, where corneal verticillata represents a typical sign. This case report examines the effect of migalastat on corneal deposits in a female who experienced therapy interruption during two pregnancies. It emphasizes the importance of multidisciplinary care with ophthalmologic follow-up and explores long-term effects of migalastat on corneal deposits and disease progression.
PMID:42205978 | PMC:PMC13206647 | DOI:10.1016/j.ymgmr.2026.101318