The following is a summary of ’GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery’,” published in the August 2023 issue of Opthalmology by Boese et al. 

The genetic variant in the GJA3 gene, p.Asp67Tyr, is responsible for congenital cataracts and glaucoma after cataract surgery in some families. Researchers conducted a retrospective study to investigate the association between autosomal recessive congenital cataracts and aphakic/pseudophakic glaucoma in family members with a GJA3 (NM_021954.4:c.199G>T, p.Asp67Tyr) gene variant.

This study at the University of Iowa spanned 61 years and observed a 4-generation family pedigree with autosomal dominant congenital cataracts. They analyzed ophthalmic records from 1961 to 2022 to investigate the occurrence of glaucoma after cataract surgery and postoperative complications in individuals with congenital cataracts caused by the p.Asp67Tyr GJA3 genetic variant.

Out of 12 family members, medical records were accessible for 11 (7 male [63.6% male]), with an average follow-up of 30 (21.7) years (range: 0.2-61 years). Among 9 individuals with congenital cataracts, 8 developed glaucoma; notably, all 8 patients who had cataract surgery at age 2 or younger also developed glaucoma after the procedure. The lone family member with congenital cataracts who avoided glaucoma had surgery at ages 12 and 21. After cataract removal and vitrectomy, 5 of 11 members (45.5%) had retinal detachments. Interestingly, no retinal detachments occurred after preventive 360-degree endo laser treatment.

The p.Asp67Tyr variant in the GJA3 gene was found in a multi-generation cataract case in Iowa. Certain  GJA3variants might increase glaucoma risk after cataract surgery. This family also experienced frequent retinal detachments after early-life cataract removal, suggesting a need for preventative retinal endo laser during surgery.

Source: jamanetwork.com/journals/jamaophthalmology/article-abstract/2808415