Retinoschisis

Research on retinoschisis described by scientists at Aga Khan University

Published in Pain and Central Nervous System Week, December 15th, 2008

New research, 'Molecular analysis of the XLRS1 gene in 4 females affected with X-linked juvenile retinoschisis,' is the subject of a report. "X-linked juvenile retinoschisis (XLRS) is the most common cause of juvenile macular degeneration in males. Because of its X-linked mode of transmission, the disease is rare in females," researchers in Karachi, Pakistan report.

"In this article, we describe a mutation screen conducted on a family in which 4 female patients affected with XLRS presented with an unusually severe phenotype. DNA was extracted from peripheral blood, and the XLRS1 gene was amplified on DNA samples of all the available family members. The mutation screen...

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Source: Pain and Central Nervous System Week (2008-12-15)

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