Genetic Testing Strategies in Inherited Retinal Diseases: Practical Aspects for Ophthalmologists
Retina-Vitreus, cilt.31, sa.3, ss.193-197, 2022 (Scopus, TRDizin)
- Yayın Türü: Makale / Editöre Mektup
- Cilt numarası: 31 Sayı: 3
- Basım Tarihi: 2022
- Doi Numarası: 10.37845/ret.vit.2022.31.34
- Dergi Adı: Retina-Vitreus
- Derginin Tarandığı İndeksler: Scopus, Academic Search Premier, EMBASE, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.193-197
- Anahtar Kelimeler: Genetic counseling, genetic testing, inherited retinal diseases, next-generation sequencing, Sanger sequencing
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
Rapidly developing genetic testing methods has transformed the diagnostic process for inherited retinal diseases (IRDs). Besides, management options for IRDs are increasing including gene and stem cell therapies. In contrast to these rapidly evolving options for diagnosis or management, number of ophthalmologists specialized in genetic diseases or number of geneticists specialized in ophthalmological diseases are limited. Therefore, ophthalmologists should have a better understanding of genetic testing algorithms for proper management of patients with IRDs. This review provides the basic aspects of genetic testing strategies for ophthalmologists.