Leber Konjenital Amorozisi

Mehmet Orkun SEVİK, (Marmara Üniversitesi Pendik Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)
Özlem ŞAHİN (Marmara Üniversitesi Pendik Eğitim ve Araştırma Hastanesi, İstanbul, Türkiye)
Güncel Retina Dergisi
88 0
Yıl: 2021 Cilt: 5 Sayı: 2 Sayfa Aralığı: 173 - 184 Metin Dili: Türkçe İndeks Tarihi: 08-06-2021

Leber Konjenital Amorozisi

Öz:
Leber Konjenital Amorozisi (LKA), yaklaşık 150 yıl önce tanımlanan ve erken çocuklukta görme kaybıyla sonuçlanan, kalıtsal retina distrofilerinin en şiddetli olanlarından biridir. Doğumdan beri olan ya da bebeklik çağında başlayan görme kaybı, arayıcı nistagmus, zayıf ışık refleksi (amorotik pupil) ve tespit edilemez ya da ciddi azalmış tam-alan (full-field) ERG yanıtlarıyla karakterize olan hastalığın daha geç yaşlarda (genellikle 5 yaşından önce) başlayan “Ciddi Erken Çocukluk Çağı Başlangıçlı Retinal Distrofi” (CEBARD) olarak isimlendirilen daha hafif formlarının olduğu da bilinmektedir. LKA ve CEBARD klinik ve genetik olarak geniş çeşitlilik gösteren bir hastalık grubunu tanımlamaktadır. Günümüzde LKA/CEBARD’a sebep olduğu belirlenen 30 farklı gen mevcuttur ve tespit edilen bu genlerin hastalık spektrumunun yaklaşık %70-80’ini kapsadığı düşünülmektedir. Son yıllarda gen terapisi ile LKA/CEBARD tedavisinde ilk başarılı sonuçların bildirilmeye başlanması, hastalık grubunu araştırmaların ilgi odağı haline getirmiştir. Bu derlemede, LKA/CEBARD hastalığının genetik ve patofizyolojik temelleri, farklı genetik tiplerinin klinik özellikleri, tanısı, ayırıcı tanısı ve tedavisindeki güncel gelişmeler özetlenmektedir.
Anahtar Kelime:

Leber Congenital Amaurosis

Öz:
Leber Congenital Amaurosis (LCA) is one of the most severe forms of hereditary retinal dystrophies described approximately 150 years ago and is a cause of vision loss early in childhood. Although LCA is characterized by wandering nystagmus, poor pupillary reflex (amaurotic pupils), and undetectable or severely abnormal ERG responses in infancy, there is a milderform called as Severe Early Childhood Onset Retinal Dystrophy (SECORD) presenting after infancy usually before the age of five. LCA and SECORD describe a clinically and genetically diverse group of diseases. To date, there are 30 different genes determined to cause LCA/SECORD, and these genes are thought to account for approximately 70-80% of the disease spectrum. In recent years, with the initial successful results reported in treatment with gene therapy, LCA/SECORD has become the focus of new researches. This review summarizes the genetic and pathophysiological basis, different genetic types and their clinical findings, diagnosis, differential diagnosis and current developments in the treatment of LCA/SECORD.
Anahtar Kelime:

Belge Türü: Makale Makale Türü: Derleme Erişim Türü: Bibliyografik
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APA SEVİK M, Şahin Ö (2021). Leber Konjenital Amorozisi. , 173 - 184.
Chicago SEVİK Mehmet Orkun,Şahin Özlem Leber Konjenital Amorozisi. (2021): 173 - 184.
MLA SEVİK Mehmet Orkun,Şahin Özlem Leber Konjenital Amorozisi. , 2021, ss.173 - 184.
AMA SEVİK M,Şahin Ö Leber Konjenital Amorozisi. . 2021; 173 - 184.
Vancouver SEVİK M,Şahin Ö Leber Konjenital Amorozisi. . 2021; 173 - 184.
IEEE SEVİK M,Şahin Ö "Leber Konjenital Amorozisi." , ss.173 - 184, 2021.
ISNAD SEVİK, Mehmet Orkun - Şahin, Özlem. "Leber Konjenital Amorozisi". (2021), 173-184.
APA SEVİK M, Şahin Ö (2021). Leber Konjenital Amorozisi. Güncel Retina Dergisi, 5(2), 173 - 184.
Chicago SEVİK Mehmet Orkun,Şahin Özlem Leber Konjenital Amorozisi. Güncel Retina Dergisi 5, no.2 (2021): 173 - 184.
MLA SEVİK Mehmet Orkun,Şahin Özlem Leber Konjenital Amorozisi. Güncel Retina Dergisi, vol.5, no.2, 2021, ss.173 - 184.
AMA SEVİK M,Şahin Ö Leber Konjenital Amorozisi. Güncel Retina Dergisi. 2021; 5(2): 173 - 184.
Vancouver SEVİK M,Şahin Ö Leber Konjenital Amorozisi. Güncel Retina Dergisi. 2021; 5(2): 173 - 184.
IEEE SEVİK M,Şahin Ö "Leber Konjenital Amorozisi." Güncel Retina Dergisi, 5, ss.173 - 184, 2021.
ISNAD SEVİK, Mehmet Orkun - Şahin, Özlem. "Leber Konjenital Amorozisi". Güncel Retina Dergisi 5/2 (2021), 173-184.
Sayfa Oluşturulma Tarihi
23-04-2024 18:9

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