دورية أكاديمية
GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery.
| العنوان: | GJA3 Genetic Variation and Autosomal Dominant Congenital Cataracts and Glaucoma Following Cataract Surgery. |
|---|---|
| المؤلفون: | Boese EA; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City., Drack AV; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City., Roos BR; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City., Alward WLM; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City., Tollefson MR; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City.; Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City., Schnieders MJ; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City.; Department of Biochemistry, Carver College of Medicine, University of Iowa, Iowa City., Scheetz TE; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City., Boldt HC; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City., Stone EM; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City., Fingert JH; Department of Ophthalmology and Visual Sciences, Carver College of Medicine, University of Iowa, Iowa City.; Institute for Vision Research, Carver College of Medicine, University of Iowa, Iowa City. |
| المصدر: | JAMA ophthalmology [JAMA Ophthalmol] 2023 Sep 01; Vol. 141 (9), pp. 872-879. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, U.S. Gov't, Non-P.H.S. |
| اللغة: | English |
| بيانات الدورية: | Publisher: American Medical Association Country of Publication: United States NLM ID: 101589539 Publication Model: Print Cited Medium: Internet ISSN: 2168-6173 (Electronic) Linking ISSN: 21686165 NLM ISO Abbreviation: JAMA Ophthalmol Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: Chicago, IL : American Medical Association, [2013]- |
| مواضيع طبية MeSH: | Cataract*/genetics , Cataract Extraction*/adverse effects , Glaucoma*/genetics , Retinal Detachment* , Connexins*/genetics, Child ; Child, Preschool ; Humans ; Male ; Genetic Variation ; Retina ; Retrospective Studies |
| مستخلص: | 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). Design, Setting, and Participants: This 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 Measures: Frequency of glaucoma following cataract surgery and postoperative complications among family members with congenital cataract due to the p.Asp67Tyr GJA3 genetic variant. Results: Medical 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 Relevance: The 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. |
| التعليقات: | Comment in: JAMA Ophthalmol. 2023 Sep 1;141(9):880-881. doi: 10.1001/jamaophthalmol.2023.3804. (PMID: 37590009) |
| معلومات مُعتمدة: | R01 DC012049 United States DC NIDCD NIH HHS |
| المشرفين على المادة: | 0 (GJA3 protein, human) 0 (Connexins) |
| SCR Disease Name: | Cataract, Autosomal Dominant |
| تواريخ الأحداث: | Date Created: 20230817 Date Completed: 20231031 Latest Revision: 20240818 |
| رمز التحديث: | 20240818 |
| مُعرف محوري في PubMed: | PMC10436186 |
| DOI: | 10.1001/jamaophthalmol.2023.3535 |
| PMID: | 37589989 |
| قاعدة البيانات: | MEDLINE |
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