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Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity
المؤلفون المشاركون
Lorenz, Birgit
Preising, M. N.
Friedburg, C.
Bowl, W.
المصدر
العدد
المجلد 2018، العدد 2018 (31 ديسمبر/كانون الأول 2018)، ص ص. 1-11، 11ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2018-05-23
دولة النشر
مصر
عدد الصفحات
11
التخصصات الرئيسية
الملخص EN
In daily life, myopia is a frequent cause of reduced visual acuity (VA) due to missing or incomplete optical correction.
While the genetic cause of high myopia itself is not well understood, a significant number of cases are secondary to hereditary malfunctions or degenerations of the retina.
The mechanism by which this occurs remains yet unclear.
Two female siblings, 4 y and 2 y, respectively, from a consanguineous Pakistani family were referred to our department for reduced VA and strabismus.
Both girls were highly myopic and hence were further examined using standard clinical tests and electroretinography (ERG).
The latter confirmed confounded electrical coupling of photoreceptors and bipolar cells.
Further inquiry and testing confirmed a similar condition for the father including impaired night vision, reduced VA, photophobia, and an equally characteristic ERG.
Findings in the mother were unremarkable.
Subsequent genetic analysis of autosomal recessive and X-linked genes for congenital stationary night blindness (CSNB) revealed a novel homozygous splice site mutation in CACNA1F in the two girls transmitted from both the father and the mother.
While in males the above clinical constellation is a frequent finding, this report, to the authors’ knowledge, is the first demonstrating biallelic mutations at the CACNA1F locus in females.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Preising, M. N.& Friedburg, C.& Bowl, W.& Lorenz, Birgit. 2018. Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity. BioMed Research International،Vol. 2018, no. 2018, pp.1-11.
https://search.emarefa.net/detail/BIM-1124123
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Preising, M. N.…[et al.]. Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity. BioMed Research International No. 2018 (2018), pp.1-11.
https://search.emarefa.net/detail/BIM-1124123
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Preising, M. N.& Friedburg, C.& Bowl, W.& Lorenz, Birgit. Unexpected Genetic Cause in Two Female Siblings with High Myopia and Reduced Visual Acuity. BioMed Research International. 2018. Vol. 2018, no. 2018, pp.1-11.
https://search.emarefa.net/detail/BIM-1124123
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1124123
قاعدة معامل التأثير والاستشهادات المرجعية العربي "ارسيف Arcif"
أضخم قاعدة بيانات عربية للاستشهادات المرجعية للمجلات العلمية المحكمة الصادرة في العالم العربي
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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
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