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Ocular colobomadefects are a frequent source of eye-related issues in children and can lead to notable vision problems. Recent progress in this field has mainly focused on pinpointing numerous genetic mutations associated with the condition and uncovering various molecular pathways. This has not only enhanced our knowledge of the origins of ocular coloboma but has also deepened our understanding of normal eye development. Despite these advancements, a significant portion of isolated ocular coloboma cases still lack a definitive genetic or environmental explanation

  • Количество прочтений 62
  • Дата публикации 19-09-2024
  • Язык статьиIngliz
  • Страницы17-21
English

Ocular colobomadefects are a frequent source of eye-related issues in children and can lead to notable vision problems. Recent progress in this field has mainly focused on pinpointing numerous genetic mutations associated with the condition and uncovering various molecular pathways. This has not only enhanced our knowledge of the origins of ocular coloboma but has also deepened our understanding of normal eye development. Despite these advancements, a significant portion of isolated ocular coloboma cases still lack a definitive genetic or environmental explanation

Имя автора Должность Наименование организации
1 Abdurakhmonov N. . assistant Ferghana Medical Institute
2 Gulomov .. assistant Ferghana Medical Institute
Название ссылки
1 1.An update on the genetics of ocular coloboma| Human Genetics. Accessed May 23, 2024. https://link.springer.com/article/10.1007/s00439-019-02019-32.Smith H, Collin JRO, Verity DH. Congenital Eyelid Coloboma. In: Quaranta Leoni FM, Verity DH, Paridaens D, eds. Oculoplastic, Lacrimal and Orbital Surgery: The ESOPRS Textbook: Volume 1. Springer Nature Switzerland; 2024:69-78. doi:10.1007/978-3-031-39634-2_73.Ramesh SV, Ramesh PV, Ray P, et al. All about the taxonomy of retinochoroidal coloboma -A comprehensive portrait collage with truecolor high-resolution confocal fundus images. Kerala Journal of Ophthalmology. 2024;36(1):80. doi:10.4103/kjo.kjo_48_224.Gupta S, Sethi HS, Naik M. Temporal iridofundal coloboma with persistent pupillary membranes with persistent fetal vasculature. Indian Journal of Ophthalmology. 2020;68(8):1649. doi:10.4103/ijo.IJO_188_205.Jacobs SM, Burkat CN, Katowitz WR, Chambers CB. Congenital Eyelid Malpositions and Anomalies. In: Cohen AJ, Burkat CN, eds. Oculofacial, Orbital, and Lacrimal Surgery: A Compendium. Springer International Publishing; 2019:75-80. doi:10.1007/978-3-030-14092-2_96.Incidence, Ocular Findings, and Systemic Associations of Ocular Coloboma: A Population-Based Study | Congenital Defects | JAMA Ophthalmology |JAMA Network. Accessed May 27, 2024. https://jamanetwork.com/journals/jamaophthalmology/article-abstract/4268207.Roos L, Jensen H, Grønskov K, Holst R, Tümer Z. Congenital Microphthalmia, Anophthalmia and Coloboma among Live Births in Denmark. Ophthalmic Epidemiology. 2016;23(5):324-330. doi:10.1080/09286586.2016.12138598.Shah SP, Taylor AE, Sowden JC, et al. Anophthalmos, Microphthalmos, and Coloboma in the United Kingdom: Clinical Features, Results of Investigations, and Early Management. Ophthalmology. 2012;119(2):362-368. doi:10.1016/j.ophtha.2011.07.0399.Duke-Elder S. System of Ophthalmology. Mosby; 1958.10.Lingam G, Sen AC, Lingam V, Bhende M, Padhi TR, Xinyi S. Ocular coloboma—a comprehensive review for the clinician. Eye. 2021;35(8):2086-2109. doi:10.1038/s41433-021-01501-511.Hussain RM, Abbey AM, Shah AR, DrenserKA, Trese MT, Capone A. Chorioretinal Coloboma Complications: Retinal Detachment and Choroidal Neovascular Membrane. J Ophthalmic Vis Res. 2017;12(1):3-10. doi:10.4103/2008-322X.20016312.Berk AT, Yaman A, Saat çi AO. Ocular and Systemic Findings AssociatedWith Optic Disc Colobomas. Journal of Pediatric Ophthalmology & Strabismus. 2003;40(5):272-278. doi:10.3928/0191-3913-20030901-0713.Gregory-Evans CY, Williams MJ, Halford S, Gregory-Evans K. Ocular coloboma: a reassessment in the age of molecular neuroscience. Journal of Medical Genetics. 2004;41(12):881-891. doi:10.1136/jmg.2004.025494
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