Nine generations of a family with autosomal dominant retinitis pigmentosa and evidence of variable expressivity from census records.
AUTOR(ES)
Jay, M
RESUMO
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.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1016211Documentos Relacionados
- Autosomal dominant retinitis pigmentosa (ADRP): a rhodopsin mutation in a Scottish family.
- Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.
- Autosomal dominant retinitis pigmentosa locus on chromosome 19q in a Japanese family.
- A clinical, psychophysical, and electroretinographic survey of patients with autosomal dominant retinitis pigmentosa.
- Rhodopsin mutations in autosomal dominant retinitis pigmentosa.