Literature DB >> 1583654

X linked progressive cone dystrophy with specific attention to carrier detection.

J A van Everdingen1, L N Went, J E Keunen, J A Oosterhuis.   

Abstract

We investigated 111 members of a five generation family with X linked cone dystrophy. The patients showed the characteristic picture of cone dystrophy. Routine ophthalmological examination of the carrier women showed no abnormalities. However, with detailed colour vision testing we were able to detect 87% of all obligate carriers.

Entities:  

Mesh：

Year:  1992        PMID： 1583654      PMCID： PMC1015946          DOI： 10.1136/jmg.29.5.291

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  12 in total

1.  CONE DYSFUNCTION SYNDROMES.

Authors:  G GOODMAN; H RIPPS; I M SIEGEL
Journal:  Arch Ophthalmol       Date:  1963-08

2.  Color matching and foveal densitometry in patients and carriers of an X-linked progressive cone dystrophy.

Authors:  J E Keunen; J A van Everdingen; L N Went; J A Oosterhuis; D van Norren
Journal:  Arch Ophthalmol       Date:  1990-12

3.  Progressive cone dystrophy.

Authors:  H Ripps; K G Noble; V C Greenstein; I M Siegel; R E Carr
Journal:  Ophthalmology       Date:  1987-11       Impact factor: 12.079

4.  X-linked cone dystrophy.

Authors:  C Verdoorn; A Pinckers
Journal:  Doc Ophthalmol       Date:  1988 Oct-Nov       Impact factor: 2.379

5.  Dominant macular degenerations. The cone dystrophies.

Authors:  A E Krill; A F Deutman
Journal:  Am J Ophthalmol       Date:  1972-03       Impact factor: 5.258

6.  Cone dystrophy, nyctalopia, and supernormal rod responses. A new retinal degeneration.

Authors:  P Gouras; H M Eggers; C J MacKay
Journal:  Arch Ophthalmol       Date:  1983-05

7.  A continuously recording retinal densitometer.

Authors:  D van Norren; J van der Kraats
Journal:  Vision Res       Date:  1981       Impact factor: 1.886

8.  An electroretinographic and molecular genetic study of X-linked cone degeneration.

Authors:  E Reichel; A M Bruce; M A Sandberg; E L Berson
Journal:  Am J Ophthalmol       Date:  1989-11-15       Impact factor: 5.258

9.  X-linked recessive cone dystrophy with tapetal-like sheen. A newly recognized entity with Mizuo-Nakamura phenomenon.

Authors:  J R Heckenlively; R G Weleber
Journal:  Arch Ophthalmol       Date:  1986-09

10.  X-linked progressive cone dystrophy. Clinical characteristics of affected males and female carriers.

Authors:  D M Jacobson; H S Thompson; J A Bartley
Journal:  Ophthalmology       Date:  1989-06       Impact factor: 12.079
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  1 in total

1.  Localization of a novel X-linked progressive cone dystrophy gene to Xq27: evidence for genetic heterogeneity.

Authors:  A A Bergen; A J Pinckers
Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025
  1 in total

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