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العنوان
HEREDITARY VITREORETINAL DEGENERATIONS
المؤلف
Mohamed Mohamed Ibrahim,Shaimaa
هيئة الاعداد
باحث / Shaimaa Mohamed Mohamed Ibrahim
مشرف / AHMED ABDALLAH DARWISH
مشرف / MAGED MAHER SALIB
الموضوع
Gene Therapy and Genetic Counseling-
تاريخ النشر
2011.
عدد الصفحات
145.p:
اللغة
الإنجليزية
الدرجة
ماجستير
التخصص
طب العيون
تاريخ الإجازة
1/1/2011
مكان الإجازة
جامعة عين شمس - كلية الطب - Ophthalmology
الفهرس
Only 14 pages are availabe for public view

from 145

from 145

Abstract

The hereditary vitreoretinal degenerations are a group of genetic disorders manifesting abnormalities of the vitreous and retna. Abnormal development of the vitreous presents as residual sheets and strands leading to increased vitreoretinal traction and retinal detachment. Additional ocular and systemic features may be present depending on the underlying cause. Many vitreoretinal degenerations are autosomal dominant. Thus, high variability in severity and expression is common both within and between families. Examination of more than one family member may be required to arrive at the correct diagnosis. Molecular genetic studies have demonstrated correlation of clinical features with the underlying mutated gene in a family and provide appropriate counseling and management. Failure to recognize a syndromic cause if childhood retinal detachment (e.g. Stickler Syndrome) can lead to avoidable vision loss in the patient and other siblings. (Lee et al., 2003)
This study discusses lattice degeneration, snowflake vitreoretinal degeneration, X-linked juvenile retinoschisis, the chromosome 5q vitreoretinopathies (e.g. Wagner syndrome), chondrodysplasias with vitreoretinal degeneration (e.g. Stickler Syndrome) and enhanced S-cone syndrome/Goldmann-Favre vitreotapetoretinal degeneration.