| Autor: |
Gupta, V., Somarajan, B.I., Gupta, S., Chaurasia, A.K., Kumar, S., Dutta, P., Sharma, A., Tayo, B.O., Nischal, K. |
| Předmět: |
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| Zdroj: |
Clinical Genetics; Aug2017, Vol. 92 Issue 2, p134-142, 10p, 2 Diagrams, 3 Charts |
| Abstrakt: |
Juvenile onset open angle glaucoma ( JOAG) affects patients before 40 years of age, who present with high intraocular pressure and deep steep cupping of the optic nerve head. While it was considered to be inherited in an autosomal dominant fashion, recent studies have shown an autosomal recessive pattern as well as sporadic occurrence of the disease in several families. In this review, we analyze the genetic basis of the disease along with common mutations and their association with JOAG. We also analyzed the inheritance patterns in a large group of unrelated JOAG patients ( n = 336) from Northern India wherein the prevalence of familial occurrence was assessed and segregation analysis performed, to determine the mode of inheritance. [ABSTRACT FROM AUTHOR] |
| Databáze: |
Complementary Index |
| Externí odkaz: |
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