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The Increased Burden of Rare Variants in Four Matrix Metalloproteinase-Related Genes in Childhood Glaucoma Suggests a Complex Genetic Inheritance of the Disease.

International journal of molecular sciences - 25 May 2024

Tevar Angel, Aroca-Aguilar José-Daniel, Bonet-Fernández Juan-Manuel, Atienzar-Aroca Raquel, Campos-Mollo Ezequiel, Méndez-Hernández Carmen, Morales-Fernández Laura, Leal Palmer Iñaki, Coca-Prados Miguel, Martinez-de-la-Casa Jose-Maria, Garcia-Feijoo Julian, Escribano Julio

Abstract excerpt

Childhood glaucoma encompasses congenital and juvenile primary glaucoma, which are heterogeneous, uncommon, and irreversible optic neuropathies leading to visual impairment with a poorly understood genetic basis. Our goal was to identify gene variants associated with these glaucoma types by assessing the mutational burden in 76 matrix metalloproteinase-related genes. We studied 101 childhood glaucoma patients...

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Identifiers

PMID: 38891949
DOI: 10.3390/ijms25115757
PMCID: PMC11171635

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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