Article
Discordance for retinitis pigmentosa in two monozygotic twin pairs.
Retina (Philadelphia, Pa.) - 1 Jun 2011
Berghmans Lieve V, de Mendonça Regina Halfeld Furtado, Coppieters Frauke, de Oliveira Maia Otacílio, Takahashi Walter Yukihiko, Lissens Willy, de Baere Elfride, Leroy Bart P
Abstract excerpt
BACKGROUND: Retinitis pigmentosa (RP) is a group of genetically heterogeneous diseases with progressive degeneration of the retina. The condition can be inherited as an autosomal dominant, autosomal recessive, and X-linked trait. METHODS: We report on two female twin pairs. One twin of each pair is affected with RP, the other twin is unaffected, both clinically and functionally.Molecular analysis in both twins...
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