Literature DB >> 1479605

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

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


  23 in total

Review 1.  Doyne Lecture. Rhodopsin and autosomal dominant retinitis pigmentosa.

Authors:  T P Dryja
Journal:  Eye (Lond)       Date:  1992       Impact factor: 3.775

2.  A three-base-pair deletion in the peripherin-RDS gene in one form of retinitis pigmentosa.

Authors:  G J Farrar; P Kenna; S A Jordan; R Kumar-Singh; M M Humphries; E M Sharp; D M Sheils; P Humphries
Journal:  Nature       Date:  1991-12-12       Impact factor: 49.962

3.  Retinal function and rhodopsin levels in autosomal dominant retinitis pigmentosa with rhodopsin mutations.

Authors:  S G Jacobson; C M Kemp; C H Sung; J Nathans
Journal:  Am J Ophthalmol       Date:  1991-09-15       Impact factor: 5.258

4.  Mutations in the human retinal degeneration slow gene in autosomal dominant retinitis pigmentosa.

Authors:  K Kajiwara; L B Hahn; S Mukai; G H Travis; E L Berson; T P Dryja
Journal:  Nature       Date:  1991-12-12       Impact factor: 49.962

5.  On the heredity of retinitis pigmentosa.

Authors:  M Jay
Journal:  Br J Ophthalmol       Date:  1982-07       Impact factor: 4.638

6.  Abnormal rod dark adaptation in autosomal dominant retinitis pigmentosa with proline-23-histidine rhodopsin mutation.

Authors:  C M Kemp; S G Jacobson; A J Roman; C H Sung; J Nathans
Journal:  Am J Ophthalmol       Date:  1992-02-15       Impact factor: 5.258

7.  Retinitis pigmentosa.

Authors:  S Merin; E Auerbach
Journal:  Surv Ophthalmol       Date:  1976 Mar-Apr       Impact factor: 6.048

8.  Linkage mapping of autosomal dominant retinitis pigmentosa (RP1) to the pericentric region of human chromosome 8.

Authors:  S H Blanton; J R Heckenlively; A W Cottingham; J Friedman; L A Sadler; M Wagner; L H Friedman; S P Daiger
Journal:  Genomics       Date:  1991-12       Impact factor: 5.736

9.  Abnormal dark adaptation kinetics in autosomal dominant sector retinitis pigmentosa due to rod opsin mutation.

Authors:  A T Moore; F W Fitzke; C M Kemp; G B Arden; T J Keen; C F Inglehearn; S S Bhattacharya; A C Bird
Journal:  Br J Ophthalmol       Date:  1992-08       Impact factor: 4.638

10.  Rhodopsin mutations in autosomal dominant retinitis pigmentosa.

Authors:  C H Sung; C M Davenport; J C Hennessey; I H Maumenee; S G Jacobson; J R Heckenlively; R Nowakowski; G Fishman; P Gouras; J Nathans
Journal:  Proc Natl Acad Sci U S A       Date:  1991-08-01       Impact factor: 11.205

View more
  4 in total

1.  Ophthalmic genetics: a genealogical guide to sources in England and Wales.

Authors:  M Jay
Journal:  J Med Genet       Date:  1995-12       Impact factor: 6.318

2.  Autosomal dominant retinitis pigmentosa with apparent incomplete penetrance: a clinical, electrophysiological, psychophysical, and molecular genetic study.

Authors:  A T Moore; F Fitzke; M Jay; G B Arden; C F Inglehearn; T J Keen; S S Bhattacharya; A C Bird
Journal:  Br J Ophthalmol       Date:  1993-08       Impact factor: 4.638

3.  Autosomal dominant retinitis pigmentosa mapping to chromosome 7p exhibits variable expression.

Authors:  R Y Kim; F W Fitzke; A T Moore; M Jay; C Inglehearn; G B Arden; S S Bhattacharya; A C Bird
Journal:  Br J Ophthalmol       Date:  1995-01       Impact factor: 4.638

4.  Variable phenotypic expressivity in inbred retinal degeneration mouse lines: A comparative study of C3H/HeOu and FVB/N rd1 mice.

Authors:  Michiel van Wyk; Sabine Schneider; Sonja Kleinlogel
Journal:  Mol Vis       Date:  2015-07-31       Impact factor: 2.367

  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.