Retinal degeneration

C1C-6 is a late endosomal chloride transporter. Its disruption in mice led to lysosomal storage disease. C1C-7 is expressed in late endosomes and lysosomes. It needs Ostml as (3-subunit [3]. The disruption of either C1C-7 or Ostml in mice and man leads to severe osteopetrosis, retinal degeneration, and a severe lysosomal storage disease. ClC-7/Ostml is highly expressed in osteoclasts. In these cells, it is inserted together with the proton pump into the specialized plasma membrane ( ruffled border ) that faces the reabsorption lacuna. Osteoclasts are still present in C1C-7 knockout... 

Hartzell C, Qu Z, Putzier I et al (2005) Looking chloride channels straight in the eye bestrophins, lipofuscinosis, and retinal degeneration. Physiology (Bethesda) 20 292-302... 

Dagnelie, G., I. S. Zorge et al. (2000). Lutein improves visual function in some patients with retinal degeneration A pilot study via the Internet. Optometry 71(3) 147-164. 

Edwards, AO, 2008. Genetics of age-related macular degeneration. Recent Advances in Retinal Degeneration 613, 211-219. 

He, X, Hahn, P, Iacovelli, J, Wong, R, King, C, Bhisitkul, R, Massaro-Giordano, M, and Dunaief, JL, 2007. Iron homeostasis and toxicity in retinal degeneration. Prog Retin Eye Res 26, 649-673. 

Hollyfield, JG, Salomon, RG, and Crabb, JW, 2003. Proteomic approaches to understanding age-related macular degeneration, In LaVail, MM, Anderson, RE, and Hollyfield, JG (Eds.), Retinal Degenerations Mechanisms and Experimental Therapy. Kluwer Academic/Plenum Publishers, New York, pp. 83-89. 

Sanz, MM, Johnson, LE, Ahuja, S, Ekstrom, PA, Romero, J, and van Veen, T, 2007. Significant photoreceptor rescue by treatment with a combination of antioxidants in an animal model for retinal degeneration. Neuroscience 145, 1120-1129. 

Wong, P, Ulyanova, T, Organisciak, DT, Bennett, S, Lakins, J, Arnold, JM, Kutty, RK, Tenniswood, M, van Veen, T, Darrow, RM, and Chader, G, 2001. Expression of multiple forms of clusterin during light-induced retinal degeneration. Curr Eye Res 23, 157-165. 

Wenzel, A., Grimm, C., Samardzija, M., Reme, C.E., 2005. Molecular mechanisms of light-induced photoreceptor apoptosis and neuroprotection for retinal degeneration. Prog Ret Eye Res. 24, 275-306. 

Anderson, R. E., Maude, M. B., Alvarez, R. A, Acland, G. and Aguirre, G. D. A hypothesis to explain the reduced blood levels of docosahexaenoic acid in inherited retinal degenerations caused by mutations in genes encoding retina-specific proteins. Lipids 34, S235-S237,1999. 

Refsum s disease. This disorder, first described nearly 60 years ago, was recently been shown due to a defect in the enzyme phytanoyl-CoA hydroxylase. Phytanic acid is a 3-methyl fatty acid that because of this methyl group cannot be oxidized directly. It is degraded by a peroxisomal a-oxidation to pristanic acid, a 2-methyl fatty acid which can be degraded by P-oxidation. The principal clinical features of Refsum s disease are progressive polyneuropathy, retinal degeneration, hearing loss, cardiomyopathy and ichthyosis, beginning in late childhood or later. 

Arikawa, K., Molday, L. L., Molday, R. S. and Williams, D. S. Localization of peripherine/rds in the disk membranes of cone and rod photoreceptors relationship to disk membrane morphogenesis and retinal degeneration. /. Cell Biol. 116 659-667,1992. 

Seabra, M. C., Brown, M. S. and Goldstein, I. L. Retinal degeneration in choroideremia deficiency of rat geranyl-geranyl transferase. Science 259 377-381,1993. 

Feely-Beavers procedure, 21 99 Feldspar(s), 2 344 5 640. See also Acid grade feldspar in clays, 6 685 in coal, 6 718 in kaolinite, 6 659 Feline central retinal degeneration (FCRD), 10 856... 

Ophthalmologic effects Perform periodic eye examinations, because retinal degeneration has been noted in animal studies. 

Ophthalmic Dose-related retinal degeneration and corneal opacities have been found in animal studies at doses equivalent to approximately the maximum recommended dose on a mg/m basis. 

The decreased behavioural photoresponsiveness in cryptochrome-mutant mice is somewhat difficult to interpret since these mice also lack free-running circadian rhythms. Therefore, one is measuring masking, not circadian responses. Although masking is also preserved in retinal-degenerate animals (Mrosovsky et al 2000), the neural and molecular mechanisms of masking are not as well understood as those of circadian rhythms. 

Retinal-degenerate mice lacking cryptochromes show markedly decreased behavioural photoresponses and pupillary responses, while non-degenerate mice lacking cryptochromes show intact photic signalling... 

Freedman MS, Lucas RJ, Soni B et al 1999 Regulation of mammalian circadian behavior by nonrod, non-cone, ocular photoreceptors. Science 284 502-504 Garcla-Fernandez JM, Jimenez AJ, Foster RG 1995 The persistence of cone photoreceptors within the dorsal retina of aged retinally degenerate mice (rd/rd) implications for circadian organization. Neurosci Lett 187 33—36... 

Mrosovsky N, Salmon PA, Foster RG, McCall MA 2000 Responses to light after retinal degeneration. Vision Res 40 575-578... 

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