Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations
المؤلفون المشاركون
Schorderet, Daniel F.
Falfoul, Yousra
Habibi, Imen
Turki, Ahmed
Hassairi, Asma
El Matri, Leila
Chebil, Ahmed
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-7، 7ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-03-15
دولة النشر
مصر
عدد الصفحات
7
التخصصات الرئيسية
الملخص EN
To assess the progression of Stargardt (STGD) disease over nine years in two branches of a large consanguineous Tunisian family.
Initially, different phenotypes were observed with clinical intra- and interfamilial variations.
At presentation, four different retinal phenotypes were observed.
In phenotype 1, bull’s eye maculopathy and slight alteration of photopic responses in full-field electroretinography were observed in the youngest child.
In phenotype 2, macular atrophy and yellow white were observed in two brothers.
In phenotype 3, diffuse macular, peripapillary, and peripheral RPE atrophy and hyperfluorescent dots were observed in two sisters.
In phenotype 4, Stargardt disease-fundus flavimaculatus phenotype was observed in two cousins with later age of onset.
After a progression of 9 years, all seven patients displayed the same phenotype 3 with advanced stage STGD and diffuse atrophy.
WES and MLPA identified two ABCA4 mutations M1: c.[(?_4635)_(5714+?)dup; (?_6148)_(6479_+?) del] and M2: c.[2041C>T], p.[R681∗].
In one branch, the three affected patients had M1/M1 causal mutations and in the other branch the two affected patients had M1/M2 causal mutations.
After 9-year follow-up, all patients showed the same phenotypic evolution, confirming the progressive nature of the disease.
Genetic variations in the two branches made no difference to similar end-stage disease.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Falfoul, Yousra& Habibi, Imen& Turki, Ahmed& Chebil, Ahmed& Hassairi, Asma& Schorderet, Daniel F.…[et al.]. 2018. Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations. Journal of Ophthalmology،Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1196125
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Falfoul, Yousra…[et al.]. Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations. Journal of Ophthalmology No. 2018 (2018), pp.1-7.
https://search.emarefa.net/detail/BIM-1196125
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Falfoul, Yousra& Habibi, Imen& Turki, Ahmed& Chebil, Ahmed& Hassairi, Asma& Schorderet, Daniel F.…[et al.]. Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations. Journal of Ophthalmology. 2018. Vol. 2018, no. 2018, pp.1-7.
https://search.emarefa.net/detail/BIM-1196125
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1196125
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
تقوم هذه الخدمة بالتحقق من التشابه أو الانتحال في الأبحاث والمقالات العلمية والأطروحات الجامعية والكتب والأبحاث باللغة العربية، وتحديد درجة التشابه أو أصالة الأعمال البحثية وحماية ملكيتها الفكرية. تعرف اكثر