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Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.

1992; BMJ; Volume: 29; Issue: 12 Linguagem: Inglês

10.1136/jmg.29.12.906

1468-6244

Marcelle Jay, Alan C. Bird, A N Moore, Barrie Jay,

Ocular Disorders and Treatments

We present a nine generation family with autosomal dominant retinitis pigmentosa (ADRP). Evidence of blindness in the early generations, as obtained from census returns and clinical records, and examination of current patients show variable expressivity with a spectrum which ranges from asymptomatic in late life to blindness in the third decade of life. The family is not linked to any of the chromosomal locations so far described in ADRP and further illustrates the heterogeneity of the disorder.