Inherited Retinal Dystrophy in Mer Knockout Mice
JL Duncan, H Yang, D Vollrath, D Yasumura… - Retinal Degenerations …, 2003 - Springer
JL Duncan, H Yang, D Vollrath, D Yasumura, MT Matthes, N Trautmann, AV Chappelow…
Retinal Degenerations: Mechanisms and Experimental Therapy, 2003•SpringerAbnormalities of the retinal pigment epithelial (RPE) cells are seen in several inherited
degenerations such as Best disease (Petrukhin et al., 1998; Marmorstein et al., 2000),
Stargardt disease (Weng et al., 1999), Sorsby's fundus dystrophy (Steinmetz et al., 1992;
Jacobson et al., 1995), and childhood-onset severe retinal dystrophy (Gu et al., 1997) and
Leber congenital amaurosis due to RPE65 mutations (Marlhens et al., 1997; Morimura et al.,
1998; Lotery et al., 2000; Thompson et al., 2000). RCS rats have been studied extensively …
degenerations such as Best disease (Petrukhin et al., 1998; Marmorstein et al., 2000),
Stargardt disease (Weng et al., 1999), Sorsby's fundus dystrophy (Steinmetz et al., 1992;
Jacobson et al., 1995), and childhood-onset severe retinal dystrophy (Gu et al., 1997) and
Leber congenital amaurosis due to RPE65 mutations (Marlhens et al., 1997; Morimura et al.,
1998; Lotery et al., 2000; Thompson et al., 2000). RCS rats have been studied extensively …
Abstract
Abnormalities of the retinal pigment epithelial (RPE) cells are seen in several inherited degenerations such as Best disease (Petrukhin et al., 1998; Marmorstein et al., 2000), Stargardt disease (Weng et al., 1999), Sorsby’s fundus dystrophy (Steinmetz et al., 1992; Jacobson et al., 1995), and childhood-onset severe retinal dystrophy (Gu et al., 1997) and Leber congenital amaurosis due to RPE65 mutations (Marlhens et al., 1997; Morimura et al., 1998; Lotery et al., 2000; Thompson et al., 2000). RCS rats have been studied extensively as a model of photoreceptor (PR)-RPE cell interactions (Mullen and LaVail, 1976; LaVail, 2001) and retinal degeneration (Strauss et al., 1998; LaVail, 2001). Retinal degeneration in RCS results from failure of the RPE to phagocytize shed rod outer segments (OS) (Herron et al., 1969; Bok and Hall, 1971). The unphagocytized OS membranes form membranous whorls at the RPE surface, and the rod OS grow abnormally long (Dowling and Sidman, 1962; LaVail and Battelle, 1975). Eventually, the OS layer degenerates into a debris zone with subsequent PR cell death (Dowling and Sidman, 1962).
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