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ON-RESPONSE DEFICITS IN X-LINKED JUVENILE RETINOSCHISIS ASSESSED BY SAWTOOTH FLICKER ELECTRORETINOGRAM

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Abstract

X-linked juvenile retinoschisis (XLRS) is a recessively inherited vitreoretinal degeneration that is the most frequent cause of juvenile-onset macular degeneration in males (The Retinoschisis Consortium, 1998). Histologic study has shown that the disease is characterized by an intraretinal splitting at the level of the nerve fiber and ganglion cell layers of the retina, and has been thought to result from defective, degenerating Muller cells (e.g., Condon et al., 1986). Recently, a substantial number of mutations in the XLRS1 gene have been identified in patients with XLRS (The Retinoschisis Consortium, 1998). This gene is expressed in rod and cone photoreceptors but not in Muller cells (Reid et al., 1999; Trump et al., 1999), so that the exact relationship between the genetic defect and observed histopathology has yet to be defined.

© 2000 Optical Society of America

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