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土耳其的遗传性眼病:当前方法与未来方向。

Inherited eye diseases in Turkey: Current approaches and future directions.

作者信息

Yaylacioglu Tuncay Fulya, Guntekin Ergun Sezen, Oner Ayse, Turan Ayse, Ozmert Emin, Ergun Mehmet Ali, Ozdek Sengul

机构信息

Department of Medical Biology, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Ophthalmology Clinic, Acıbadem Atakent Kayseri Hospital, Kayseri, Turkey.

出版信息

Am J Med Genet C Semin Med Genet. 2020 Sep;184(3):773-781. doi: 10.1002/ajmg.c.31829. Epub 2020 Aug 30.

DOI:10.1002/ajmg.c.31829
PMID:32864844
Abstract

The aim of this review is to reveal Turkey's current status of medical practice in inherited eye diseases and the necessary steps to improve healthcare services and research activities in this area. Since consanguinity rate is high, disease burden is estimated to be high in Turkey. Universal health insurance system, easily accessible medical specialists, increasing genetic test, and counseling opportunities are the key advantages of Turkey's healthcare system. However, specialized clinics for inherited eye diseases, low-vision rehabilitation services, training of ophthalmologists about the recent developments in ocular genetics, and multidisciplinary translational research are the main headlines needed to be focused for better health services and successful research in Turkey.

摘要

本综述的目的是揭示土耳其在遗传性眼病医疗实践方面的现状,以及改善该领域医疗服务和研究活动所需采取的必要措施。由于近亲结婚率较高,据估计土耳其的疾病负担也较重。全民健康保险制度、易于获得的医学专家、不断增加的基因检测和咨询机会是土耳其医疗体系的主要优势。然而,遗传性眼病专科诊所、低视力康复服务、眼科医生关于眼部遗传学最新进展的培训以及多学科转化研究是土耳其为提供更好的医疗服务和开展成功研究而需要重点关注的主要方面。

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