Abstract
Genetically determined optic atrophies (OA) affect the retinal ganglion cells, the retinal fibre layer or the intra-ocular portion of the optic nerve. Autosomal dominant optic atrophies (DOA) are the most common form of hereditary optic neuropathy (prevalence 1 : 50,000). The genetic heterogeneity of DOA has been demonstrated. Three loci have been reported: OPA1 [3q28–q29; MIM 165500], OPA4 [18q12.2–q12.3; MIM 605293, and OPA5 (22q12.1–q13.1)1. OPA1 which accounts for about 90% of DOA is due to mutations in the Msp1 protein [MIM 605290].
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Barbet, F. et al. (2006). A First Locus for Isolated Autosomal Recessive Optic Atrophy (ROA1) Maps to Chromosome 8q21-q22. In: Hollyfield, J.G., Anderson, R.E., LaVail, M.M. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 572. Springer, Boston, MA. https://doi.org/10.1007/0-387-32442-9_4
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DOI: https://doi.org/10.1007/0-387-32442-9_4
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