GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.

doi:10.1001/jamaophthalmol.2023.3535

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Article

GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.

JAMA ophthalmology - 1 Sept 2023

Boese Erin A, Drack Arlene V, Roos Benjamin R, Alward Wallace L M, Tollefson Mallory R, Schnieders Michael J, Scheetz Todd E, Boldt H Culver, Stone Edwin M, Fingert John H

Abstract excerpt

Importance: The p.Asp67Tyr genetic variant in the GJA3 gene is responsible for congenital cataracts in a family with a high incidence of glaucoma following cataract surgery. Objective: To describe the clinical features of a family with a strong association between congenital cataracts and glaucoma following cataract surgery secondary to a genetic variant in the GJA3 gene (NM_021954.4:c.199G>T, p.Asp67Tyr)....

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Identifiers

PMID: 37589989
DOI: 10.1001/jamaophthalmol.2023.3535
PMCID: PMC10436186

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