Multimodal Imaging in Hereditary Retinal Diseases
المؤلفون المشاركون
Pichi, Francesco
Nucci, Paolo
Morara, Mariachiara
Ciardella, Antonio P.
Veronese, Chiara
المصدر
العدد
المجلد 2013، العدد 2013 (31 ديسمبر/كانون الأول 2013)، ص ص. 1-11، 11ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2013-04-24
دولة النشر
مصر
عدد الصفحات
11
التخصصات الرئيسية
الملخص EN
Introduction.
In this retrospective study we evaluated the multimodal visualization of retinal genetic diseases to better understand their natural course.
Material and Methods.
We reviewed the charts of 70 consecutive patients with different genetic retinal pathologies who had previously undergone multimodal imaging analyses.
Genomic DNA was extracted from peripheral blood and genotyped at the known locus for the different diseases.
Results.
The medical records of 3 families of a 4-generation pedigree affected by North Carolina macular dystrophy were reviewed.
A total of 8 patients with Stargardt disease were evaluated for their two main defining clinical characteristics, yellow subretinal flecks and central atrophy.
Nine male patients with a previous diagnosis of choroideremia and eleven female carriers were evaluated.
Fourteen patients with Best vitelliform macular dystrophy and 6 family members with autosomal recessive bestrophinopathy were included.
Seven patients with enhanced s-cone syndrome were ascertained.
Lastly, we included 3 unrelated patients with fundus albipunctatus.
Conclusions.
In hereditary retinal diseases, clinical examination is often not sufficient for evaluating the patient’s condition.
Retinal imaging then becomes important in making the diagnosis, in monitoring the progression of disease, and as a surrogate outcome measure of the efficacy of an intervention.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Pichi, Francesco& Morara, Mariachiara& Veronese, Chiara& Nucci, Paolo& Ciardella, Antonio P.. 2013. Multimodal Imaging in Hereditary Retinal Diseases. Journal of Ophthalmology،Vol. 2013, no. 2013, pp.1-11.
https://search.emarefa.net/detail/BIM-486851
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Pichi, Francesco…[et al.]. Multimodal Imaging in Hereditary Retinal Diseases. Journal of Ophthalmology No. 2013 (2013), pp.1-11.
https://search.emarefa.net/detail/BIM-486851
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Pichi, Francesco& Morara, Mariachiara& Veronese, Chiara& Nucci, Paolo& Ciardella, Antonio P.. Multimodal Imaging in Hereditary Retinal Diseases. Journal of Ophthalmology. 2013. Vol. 2013, no. 2013, pp.1-11.
https://search.emarefa.net/detail/BIM-486851
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-486851
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