| Literature DB >> 1479605 |
M Jay1, A C Bird, A N Moore, B Jay.
Abstract
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.Entities:
Mesh:
Year: 1992 PMID: 1479605 PMCID: PMC1016211 DOI: 10.1136/jmg.29.12.906
Source DB: PubMed Journal: J Med Genet ISSN: 0022-2593 Impact factor: 6.318