Abstract
HUMAN retinitis pigmentosa represents a class of diseases, the principal characteristic of which is the slow and progressive degeneration of photoreceptor cells. In several human neurological syndromes, photoreceptor degeneration accompanies cerebellar ataxia, deafness, mental retardation or other abnormalities. Some examples of such syndromes are BattenSpielmeyer–Vogt disease, Refsum's disease, Laurence–Moon Biedl syndrome, Bassen–Kornzweig disease, Usher's syndrome and several of the mucopolysaccharidoses1–4. As far as we know laboratory animals with neurological syndromes that include photoreceptor degeneration have not been available.
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MULLEN, R., LAVAIL, M. Two new types of retinal degeneration in cerebellar mutant mice. Nature 258, 528–530 (1975). https://doi.org/10.1038/258528a0
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DOI: https://doi.org/10.1038/258528a0
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