ArticleMolecular vision2025
Genetic variants through exome sequencing in Spanish patients affected by primary congenital glaucoma and juvenile open-angle glaucoma.
Article in Molecular vision, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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10 authors.
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Abstract
Purpose: To evaluate the genetic characteristics using whole-exome sequencing (WES), aiming to assess the potential of this approach for accurate diagnoses and to explore the genetic factors underlying these conditions. Methods: A total of 28 patients, including 6 with primary congenital glaucoma and 22 with juvenile open-angle glaucoma, were studied. Genetic analysis involved initial Sanger sequencing for the Results: Pathogenic variants in Conclusions: WES is an effective diagnostic tool for early-onset glaucoma, enhancing clinical management and genetic counseling. It supports its use in routine diagnostics to enable early detection and intervention for at-risk relatives. Further research is needed to uncover additional genetic factors and refine testing guidelines.
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41867382PMC13002345What OpenQuestion holds
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