Olivopontocerebellar Atrophy III (OPCA III; OPCA with Retinal Degeneration)
General: Autosomal dominant; neurologic lesion; dominant w 141j91b ith 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.
Electrical Injury [...] |
String Syndrome 1 [...] |
Oculorenocerebellar Syndrome (ORC Syndrome) General: Autosomal [...] |
Copyright © 2010 - 2024
: eSanatos.com - Reproducerea, chiar si partiala, a materialelor de pe acest site este interzisa!
Informatiile medicale au scop informativ si educational. Ele nu pot inlocui consultul medicului si nici diagnosticul stabilit in urma investigatiilor si analizelor medicale la un medic specialist.
Termeni si conditii - Confidentialitatea datelor - Contact
Despre diseases |
| Alte sectiuni |
|
Ai o problema medicala? |
