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Article

ABCC6 gene mutational spectrum and ocular features in Mexican patients with pseudoxanthoma elasticum-related angioid streaks.

Ophthalmic genetics - 1 Jun 2025

Rosales-Padron Jaime, Chacon-Camacho Oscar F, Ordoñez-Labastida Vianey, Ledesma-Gil Gerardo, Graue-Wiechers Federico, Zenteno Juan Carlos

Abstract excerpt

OBJECTIVE: Angioid streaks (AS) are uncommon retinal lesions associated with significant risk of vision loss due to choroidal neovascularization. About half of AS cases have a concurrent disease, most commonly pseudoxanthoma elasticum (PXE), a recessively inherited disorder that affects the skin, the eye, and vascular system and caused by biallelic mutations in the ABCC6 gene. In this work, we describe the ocular...

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Identifiers

PMID: 40044626
DOI: 10.1080/13816810.2025.2473974

Genes

ABCC6

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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