Taurine Availability and Function in Neurogenetic Retinopathies
1987
Several neurogenetic diseases manifest abnormal retinal electrophysiology and pathology; such changes in both retinal integrity and function resemble those found in the retina of individuals with retinitis pigmentosa. Some of these inherited neurodegenerative disease include: ceroid lipofuscinosis, Bardet-Beidl-Lawrence-Moon syndrome and Refsum disease, (36). The etiologies of the retinal degeneration observed in these neurogenetic diseases and retinitis pigmentosa remain unknown. Preliminary results, however, from this laboratory (68) and published reports from other investigators (16,21) suggest altered transport of the amino acid taurine in several neurodegenerative diseases.
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