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4 articles in GJC
Hollander David A, Sarfarazi Mansoor, Stoilov Ivaylo, Wood Irmgard S, Fredrick Douglas R, Alvarado Jorge A
This study found CYP1B1 mutations linked to severe/moderate angle dysgenesis and disease severity in congenital glaucoma, suggesting genetic testing could predict prognosis.
Aung Tin, Rezaie Tayebeh, Okada Koji, Viswanathan Ananth C, Child Anne H, Brice Glen et al.
Glaucoma patients with the OPTN E50K mutation presented with earlier-onset, more severe normal tension glaucoma, requiring more surgery. This highlights the need for early detection and aggressive treatment in these individuals.
Willoughby Colin E, Chan Louie Loh Yen, Herd Sarah, Billingsley Gail, Noordeh Nima, Levin Alex V et al.
This study found a specific OPTN gene mutation (H486R) linked to juvenile open-angle glaucoma, showing OPTN's role isn't limited to normal-tension glaucoma but can cause severe, early-onset disease.
Stoilov Ivaylo R, Costa Vital P, Vasconcellos Jose P C, Melo Monica B, Betinjane Alberto J, Carani Jose C E et al.
This study found CYP1B1 gene mutations in half of Brazilian primary congenital glaucoma patients, with a specific mutation (4340delG) and haplotype linked to severe disease, guiding genetic screening and prognosis.
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