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- Angebault 2015 Am J Hum Genet + (Autosomal-recessive optic neuropathies are … Autosomal-recessive optic neuropathies are rare blinding conditions related to retinal ganglion cell (RGC) and optic-nerve degeneration, for which only mutations in ''TMEM126A'' and ''ACO2'' are known. In four families with early-onset recessive optic neuropathy, we identified mutations in ''RTN4IP1'', which encodes a mitochondrial ubiquinol oxydo-reductase. ''RTN4IP1'' is a partner of ''RTN4'' (also known as NOGO), and its ortholog Rad8 in ''C. elegans'' is involved in UV light response. Analysis of fibroblasts from affected individuals with a ''RTN4IP1'' mutation showed loss of the altered protein, a deficit of mitochondrial respiratory complex I and IV activities, and increased susceptibility to UV light. Silencing of RTN4IP1 altered the number and morphogenesis of mouse RGC dendrites ''in vitro'' and the eye size, neuro-retinal development, and swimming behavior in zebrafish ''in vivo''. Altogether, these data point to a pathophysiological mechanism responsible for RGC early degeneration and optic neuropathy and linking ''RTN4IP1'' functions to mitochondrial physiology, response to UV light, and dendrite growth during eye maturation.and dendrite growth during eye maturation.)
