Journal article
GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery
JAMA ophthalmology, Vol.141(9), pp.872-879
09/2023
DOI: 10.1001/jamaophthalmol.2023.3535
PMCID: PMC10436186
PMID: 37589989
Abstract
ImportanceThe 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. ObjectiveTo 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). Design, Setting, and ParticipantsThis was a retrospective, observational, case series, genetic association study from the University of Iowa spanning 61 years. Examined were the ophthalmic records from 1961 through 2022 of the family members of a 4-generation pedigree with autosomal dominant congenital cataracts. Main Outcomes and MeasuresFrequency of glaucoma following cataract surgery and postoperative complications among family members with congenital cataract due to the p.Asp67Tyr GJA3 genetic variant. ResultsMedical records were available from 11 of 12 family members (7 male [63.6%]) with congenital cataract with a mean (SD) follow-up of 30 (21.7) years (range, 0.2-61 years). Eight of 9 patients with congenital cataracts developed glaucoma, and 8 of 8 patients who had cataract surgery at age 2 years or younger developed glaucoma following cataract surgery. The only family member with congenital cataracts who did not develop glaucoma had delayed cataract surgery until 12 and 21 years of age. Five of 11 family members (45.5%) had retinal detachments after cataract extraction and vitrectomy. No patients developed retinal detachments after prophylactic 360-degree endolaser. Conclusions and RelevanceThe GJA3 genetic variant, p.Asp67Tyr, was identified in a 4-generation congenital cataract pedigree from Iowa. This report suggests that patients with congenital cataract due to some GJA3 genetic variants may be at especially high risk for glaucoma following cataract surgery. Retinal detachments after cataract extraction in the first 2 years of life were also common in this family, and prophylactic retinal endolaser may be indicated at the time of surgery.
Details
- Title: Subtitle
- GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery
- Creators
- Erin A Boese - University of IowaArlene V Drack - University of IowaBenjamin R RoosWallace L M Alward - University of IowaMallory R Tollefson - University of IowaMichael J Schnieders - University of IowaTodd E Scheetz - University of IowaH Culver Boldt - University of IowaEdwin M Stone - University of IowaJohn H Fingert - University of Iowa
- Resource Type
- Journal article
- Publication Details
- JAMA ophthalmology, Vol.141(9), pp.872-879
- Publisher
- American Medical Association (AMA)
- DOI
- 10.1001/jamaophthalmol.2023.3535
- PMID
- 37589989
- PMCID
- PMC10436186
- ISSN
- 2168-6165
- eISSN
- 2168-6173
- Language
- English
- Electronic publication date
- 08/17/2023
- Date published
- 09/2023
- Academic Unit
- Roy J. Carver Department of Biomedical Engineering; Stead Family Department of Pediatrics; The University of Iowa Institute for Vision Research; Iowa Neuroscience Institute; John and Marcia Carver Nonprofit Genetic Testing Laboratory; Biochemistry and Molecular Biology; Chemical and Biochemical Engineering; Ophthalmology and Visual Sciences
- Record Identifier
- 9984455957002771
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