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Retinitis pigmentosa: problems associated with genetic classification.

M Haim
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Abstract

Genetic classification of retinitis pigmentosa (RP) can be problematic, due to a large number of isolated cases, reduced penetrance, and considerable variation in expressivity. Another confounder is a high proportion of affected female carriers in X-linked RP. Based on the genetic definitions of five different authors, a reclassification experiment was conducted with 350 Danish families. Agreement existed about a small "nucleus" of familial cases. Most definitions favored autosomal dominant inheritance at the expense of X-linked. The experiment revealed that methodological differences to a large extent might explain the considerable variation among reported genetic frequencies of retinitis pigmentosa.

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FemaleGenes, DominantGenes, RecessiveGenetic LinkageHumansMalePedigreeRegistriesRetinitis PigmentosaX ChromosomeJournal ArticleResearch Support, Non-U.S. Gov't

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M Haim. 1993. Retinitis pigmentosa: problems associated with genetic classification.. https://doi.org/10.1111/j.1399-0004.1993.tb03848.x

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