X-linked retinitis pigmentosa: re-evaluation of fundus findings and the use of haplotype analysis in clarification of carrier female status.

Abstract excerpt

The identification by fundus examination of those females carrying an X-linked retinitis pigmentosa (RP) gene can reportedly be as high as 87%. In genetic counselling sessions with young females with a 50% risk of being a carrier who wished to know their status, it has not been possible to achieve such a level of success. A review and reanalysis of previous reports indicated that if a tapetal-like reflex was not...

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