Konjenital Katarakt ve Genetiği: Yeni Nesil 
Dizileme Çağ

Utine, Gülen Eda; Taylan Sekeroglu, Hande

doi:10.4274/tjo.galenos.2020.08377

Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ

Hande Taylan ŞEKEROĞLU, (Hacettepe Üniversitesi, Tıp Fakültesi, Göz Hastalıkları Anabilim Dalı, Ankara, Türkiye)

Gülen Eda UTİNE (Hacettepe Üniversitesi ,Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Çocuk Genetik Bilim Dalı, Ankara, Türkiye)

Türk Oftalmoloji Dergisi

13 2

Yıl: 2021 Cilt: 51 Sayı: 2 Sayfa Aralığı: 107 - 113 Metin Dili: Türkçe DOI: 10.4274/tjo.galenos.2020.08377 İndeks Tarihi: 21-06-2022

Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ

Öz:

Konjenital katarakt, çocukluk döneminde ciddi görme azlığına neden olabilen önemli bir göz hastalığıdır. Doğumda veya hayatın ilk bir yılı içerisinde tanı almaktadır. Erken tanı ve tedavisi görme prognozu açısından oldukça önemlidir. Çeşitli göz anomalileri ve sistemik hastalıklar eşlik edebilmektedir. Konjenital kataraktın izole olup olmadığının aydınlatılması hem potansiyel görme düzeyini belirlemek için hem de morbidite/mortalite yaratan durumların erken dönemde tanımlanıp tedavi edilebilmesi için kritik bir basamaktır. Konjenital kataraktın moleküler etiyolojisinde pek çok gen tanımlanmıştır. Mutasyonların çoğu kristalin genlerinde saptanmıştır. Genetik sebebin çeşitli testler ile belirlenmesi bireyselleştirilmiş genetik danışma verilebilmesi için gerekli olmakla birlikte moleküler etiyolojinin anlaşılabilmesi ve yapılan testin özelliklerine göre ayrıca eşlik edebilecek diğer oküler ve/veya sistemik sorunların tanımlanabilmesi açısından da fayda sağlamaktadır. Son yıllarda özellikle yeni nesil dizileme, konjenital katarakt moleküler etiyolojisinin belirlenmesinde gelişen ve mevcut bilgi düzeyini artıran bir teknoloji haline gelmiştir

Anahtar Kelime:

Congenital Cataract and Its Genetics: The Era of Next-GenerationSequencing

Öz:

Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. It can be diagnosed at birth or during the first year of life. Early diagnosis and treatment are crucial for the visual prognosis. It can be associated with various ocular and systemic abnormalities. Determining whether congenital cataract is isolated or associated with other pathology is an indispensable step for the prediction of potential vision as well as early diagnosis and treatment of conditions that can cause morbidity or mortality. Many genes have been identified in the molecular etiology of congenital cataract. Most mutations have been reported in the crystallin genes. Determination of the genetic cause may not only enable individualized genetic counseling but also help to identify concomitant ocular and/or systemic disorders depending on the characteristics of the genetic test used. Recently, next-generation sequencing in particular has become an evolving technology for determining the molecular etiology of congenital cataract and furthering our knowledge of the disease.

Anahtar Kelime:

Belge Türü: Makale Makale Türü: Araştırma Makalesi Erişim Türü: Erişime Açık

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APA	Taylan Sekeroglu H, Utine G (2021). Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ. , 107 - 113. 10.4274/tjo.galenos.2020.08377
Chicago	Taylan Sekeroglu Hande,Utine Gülen Eda Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ. (2021): 107 - 113. 10.4274/tjo.galenos.2020.08377
MLA	Taylan Sekeroglu Hande,Utine Gülen Eda Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ. , 2021, ss.107 - 113. 10.4274/tjo.galenos.2020.08377
AMA	Taylan Sekeroglu H,Utine G Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ. . 2021; 107 - 113. 10.4274/tjo.galenos.2020.08377
Vancouver	Taylan Sekeroglu H,Utine G Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ. . 2021; 107 - 113. 10.4274/tjo.galenos.2020.08377
IEEE	Taylan Sekeroglu H,Utine G "Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ." , ss.107 - 113, 2021. 10.4274/tjo.galenos.2020.08377
ISNAD	Taylan Sekeroglu, Hande - Utine, Gülen Eda. "Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ". (2021), 107-113. https://doi.org/10.4274/tjo.galenos.2020.08377

APA	Taylan Sekeroglu H, Utine G (2021). Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ. Türk Oftalmoloji Dergisi, 51(2), 107 - 113. 10.4274/tjo.galenos.2020.08377
Chicago	Taylan Sekeroglu Hande,Utine Gülen Eda Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ. Türk Oftalmoloji Dergisi 51, no.2 (2021): 107 - 113. 10.4274/tjo.galenos.2020.08377
MLA	Taylan Sekeroglu Hande,Utine Gülen Eda Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ. Türk Oftalmoloji Dergisi, vol.51, no.2, 2021, ss.107 - 113. 10.4274/tjo.galenos.2020.08377
AMA	Taylan Sekeroglu H,Utine G Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ. Türk Oftalmoloji Dergisi. 2021; 51(2): 107 - 113. 10.4274/tjo.galenos.2020.08377
Vancouver	Taylan Sekeroglu H,Utine G Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ. Türk Oftalmoloji Dergisi. 2021; 51(2): 107 - 113. 10.4274/tjo.galenos.2020.08377
IEEE	Taylan Sekeroglu H,Utine G "Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ." Türk Oftalmoloji Dergisi, 51, ss.107 - 113, 2021. 10.4274/tjo.galenos.2020.08377
ISNAD	Taylan Sekeroglu, Hande - Utine, Gülen Eda. "Konjenital Katarakt ve Genetiği: Yeni Nesil Dizileme Çağ". Türk Oftalmoloji Dergisi 51/2 (2021), 107-113. https://doi.org/10.4274/tjo.galenos.2020.08377