Olivopontocerebellar Atrophy III (OPCA III; OPCA with Retinal Degeneration)
General: Autosomal dominant; neurologic lesion; domina 757e46h nt with variable penetration.
Ocular: Retinopathy variable: peripheral, macular, and circumpapillary; retinal degeneration; blindness; external ophthalmoplegia; variable electroretinogram function.
Clinical: Ataxia.
Hamilton SR, et al. Cone dysfunction in a subgroup of patients with autosomal dominant cerebellar ataxia. Arch Ophthalmol 1990; 108:551.
McKusick VA. Mendelian Inheritance in Man; A Catalog of Human Genes and Genetic Disorders, 12th ed. Baltimore: The Johns Hopkins University Press, 1998.
Online Mendelian Inheritance in Man, OMIM. McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University and National Center for Biotechnology Information, National Library of Medicine, February 12, 2007. World Wide Web URL: https://www.ncbi.nlm.nih.gov/omim/.
Traboulsi EI, et al. Olivopontocerebellar atrophy with retinal de generation: a Clinical and ocular histopathological study. Arch Ophthalmol 1988; 106:801.
Weiner LP, et al. Hereditary olivopontocerebellar atrophy with retinal degeneration. Report of a family through six generations. Arch Neurol 1967; 16:364-376.
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