Details

Autor(en) / Beteiligte

• Sekeroglu, Hande Taylan
• Utine, Giilen Eda
• İrkeç,Murat

Titel

Congenital Cataract and Its Genetics: The Era of Next-Generation Sequencing

Ist Teil von

• Turk oftalmoloji gazetesi, 2021-04, Vol.51 (2), p.107-113

Ort / Verlag

Istanbul: Galenos Yayinevi Tic. Ltd

Erscheinungsjahr

2021

Quelle

Free E-Journal (出版社公開部分のみ）

Beschreibungen/Notizen

• Congenital cataract is a challenging ophthalmological disorder which can cause severe visual loss. It can be diagnosed at birth or during the fitst year of life. Eatly diagnosis and treatment are crucial for the visual prognosis. It can be associated with various ocular and systemic abnormalities. Determining whether congenital catatact is isolated of associated with other pathology is an indispensable step for the prediction of potential vision as well as eatly diagnosis and tteatment of conditions that can cause motbidity or mortality. Many genes have been identified in the molecular etiology of congenital catatact. 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 oculat 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 detetmining the moleculat etiology of congenital catatact and furthering out knowledge of the disease. Keywords: Genetics, congenital catatact, ctystallin, lens, next-genetation sequencing