Population genetic studies of retinitis pigmentosa.

  title={Population genetic studies of retinitis pigmentosa.},
  author={Joann A. Boughman and P. Michael Conneally and Walter E. Nance},
  journal={American journal of human genetics},
  volume={32 2},
A questionnaire survey characterized a sample of 670 probands with retinitis pigmentosa (RP) and allied disorders. Segregation analysis provided some evidence for a small proportion of sporadic cases and for decreased segregation ratios of the dominant and recessive genotypes, which could be attributed to delayed age of onset in some cases. The overall incidence of RP was indirectly calculated to be approximately 1 in 3,700, while the incidence of autosomal recessive RP, including at least two… CONTINUE READING


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