The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and Therapeutics
Congenital cataracts, a significant cause of childhood blindness, result from genetic mutations, syndromic associations, and environmental factors, with autosomal dominant inheritance and mutations in genes like CRYAA and GJA8 being prevalent. This study reviewed literature from 2000 to 2023 on gen...
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| Format: | Article |
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Nicolaus Copernicus University in Toruń
2025-02-01
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| Series: | Quality in Sport |
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| Online Access: | https://apcz.umk.pl/QS/article/view/58250 |
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| author | Agnieszka Starzyk Piotr Charzewski |
| author_facet | Agnieszka Starzyk Piotr Charzewski |
| author_sort | Agnieszka Starzyk |
| collection | DOAJ |
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Congenital cataracts, a significant cause of childhood blindness, result from genetic mutations, syndromic associations, and environmental factors, with autosomal dominant inheritance and mutations in genes like CRYAA and GJA8 being prevalent. This study reviewed literature from 2000 to 2023 on genetic etiology, surgical management, and emerging therapies. Genetic mutations in structural proteins such as crystallins and connexins account for over half of cases, emphasizing the critical role of early surgical intervention, particularly intraocular lens (IOL) implantation in children over two years old. Emerging approaches, including gene therapy and pharmacological interventions like small-molecule chaperones, hold promise for addressing underlying genetic causes. While surgical techniques and postoperative care have advanced, challenges like complications persist. Advances in genetic testing and innovative therapies are reshaping the field, offering the potential for improved outcomes and personalized treatments. Continued research is necessary to refine these strategies and enhance accessibility globally.
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| format | Article |
| id | doaj-art-5ba8b34302254ffc89d077f691a6df4a |
| institution | Kabale University |
| issn | 2450-3118 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | Nicolaus Copernicus University in Toruń |
| record_format | Article |
| series | Quality in Sport |
| spelling | doaj-art-5ba8b34302254ffc89d077f691a6df4a2025-02-08T08:25:06ZengNicolaus Copernicus University in ToruńQuality in Sport2450-31182025-02-013810.12775/QS.2025.38.58250The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and TherapeuticsAgnieszka Starzyk0https://orcid.org/0009-0002-8696-4187Piotr Charzewski1https://orcid.org/0009-0007-5170-3899Medical University of WarsawAkademia Leona Koźmińskiego w Warszawie Congenital cataracts, a significant cause of childhood blindness, result from genetic mutations, syndromic associations, and environmental factors, with autosomal dominant inheritance and mutations in genes like CRYAA and GJA8 being prevalent. This study reviewed literature from 2000 to 2023 on genetic etiology, surgical management, and emerging therapies. Genetic mutations in structural proteins such as crystallins and connexins account for over half of cases, emphasizing the critical role of early surgical intervention, particularly intraocular lens (IOL) implantation in children over two years old. Emerging approaches, including gene therapy and pharmacological interventions like small-molecule chaperones, hold promise for addressing underlying genetic causes. While surgical techniques and postoperative care have advanced, challenges like complications persist. Advances in genetic testing and innovative therapies are reshaping the field, offering the potential for improved outcomes and personalized treatments. Continued research is necessary to refine these strategies and enhance accessibility globally. https://apcz.umk.pl/QS/article/view/58250congenital cataractsvision healthgenetic mutationsgene therapyvisual rehabilitationpediatric cataract surgery |
| spellingShingle | Agnieszka Starzyk Piotr Charzewski The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and Therapeutics Quality in Sport congenital cataracts vision health genetic mutations gene therapy visual rehabilitation pediatric cataract surgery |
| title | The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and Therapeutics |
| title_full | The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and Therapeutics |
| title_fullStr | The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and Therapeutics |
| title_full_unstemmed | The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and Therapeutics |
| title_short | The Genetic Basis of Congenital Cataracts: Advances in Diagnostics and Therapeutics |
| title_sort | genetic basis of congenital cataracts advances in diagnostics and therapeutics |
| topic | congenital cataracts vision health genetic mutations gene therapy visual rehabilitation pediatric cataract surgery |
| url | https://apcz.umk.pl/QS/article/view/58250 |
| work_keys_str_mv | AT agnieszkastarzyk thegeneticbasisofcongenitalcataractsadvancesindiagnosticsandtherapeutics AT piotrcharzewski thegeneticbasisofcongenitalcataractsadvancesindiagnosticsandtherapeutics AT agnieszkastarzyk geneticbasisofcongenitalcataractsadvancesindiagnosticsandtherapeutics AT piotrcharzewski geneticbasisofcongenitalcataractsadvancesindiagnosticsandtherapeutics |