Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance
المؤلفون المشاركون
Traversi, Claudio
Barabino, Stefano
Mularoni, Alessandro
Baiocchi, Stefano
Mazzotta, Cosimo
المصدر
Case Reports in Ophthalmological Medicine
العدد
المجلد 2015، العدد 2015 (31 ديسمبر/كانون الأول 2015)، ص ص. 1-6، 6ص.
الناشر
Hindawi Publishing Corporation
تاريخ النشر
2015-06-29
دولة النشر
مصر
عدد الصفحات
6
التخصصات الرئيسية
الملخص EN
Clinical, instrumental, and genetic findings are reported in Italian families with Type II Granular Corneal Dystrophies (GCD2) presenting an initial unusual presentation of a Granular Corneal Dystrophy Type I (GCD1) phenotypic spectrum in female descendants.
Slit-lamp examinations showed the typical phenotypic features of GCD2 in both mothers and a phenotypic appearance of GCD1 in both daughters.
Despite the different phenotypic onset, the genetic diagnostic testing revealed the presence of a mutation in the TGFB-I gene, typical of GCD2 in both cases, excluding GCD1.
Patients who were clinically suspected of corneal dystrophy need a genetic confirmatory testing for certain diagnosis.
Genetic test may help to find the specific mutation distinguishing between different phenotypic spectra with relative diagnostic and prognostic implications.
The study demonstrates that the phenotypic spectrum of genetically confirmed granular corneal dystrophies in patients may change over time.
Since the R124H mutation has also been described in clinically asymptomatic individuals prior to LASIK, who then develop dramatic deposition, suggesting that this particular mutation and phenotype may be sensitive to, precipitated, or modified by central cornea trauma, a careful familial anamnesis excluding cornel dystrophies and specific preoperative genetic test are recommended prior to LASIK.
نمط استشهاد جمعية علماء النفس الأمريكية (APA)
Mazzotta, Cosimo& Traversi, Claudio& Baiocchi, Stefano& Barabino, Stefano& Mularoni, Alessandro. 2015. Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance. Case Reports in Ophthalmological Medicine،Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1059400
نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)
Mazzotta, Cosimo…[et al.]. Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance. Case Reports in Ophthalmological Medicine No. 2015 (2015), pp.1-6.
https://search.emarefa.net/detail/BIM-1059400
نمط استشهاد الجمعية الطبية الأمريكية (AMA)
Mazzotta, Cosimo& Traversi, Claudio& Baiocchi, Stefano& Barabino, Stefano& Mularoni, Alessandro. Phenotypic Spectrum of Granular Corneal Dystrophy Type II in Two Italian Families Presenting an Unusual Granular Corneal Dystrophy Type I Clinical Appearance. Case Reports in Ophthalmological Medicine. 2015. Vol. 2015, no. 2015, pp.1-6.
https://search.emarefa.net/detail/BIM-1059400
نوع البيانات
مقالات
لغة النص
الإنجليزية
الملاحظات
Includes bibliographical references
رقم السجل
BIM-1059400
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