Literature DB >> 3234184

X-linked cone dystrophy.

C Verdoorn1, A Pinckers.   

Abstract

A description is given of a new family with X-linked cone dystrophy. A survey is also given of the findings in X-linked cone dystrophy. When an eye specialist sees a male patient with myopia and reduced visual acuity, the cause of which is not clear from the fundus picture, an X-linked cone dystrophy should be considered. Electrophysiological examination, combined with detailed testing of colour vision, can provide an explanation of the poor vision which satisfies both the patient and the ophthalmologist.

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Year:  1988        PMID: 3234184     DOI: 10.1007/bf00154453

Source DB:  PubMed          Journal:  Doc Ophthalmol        ISSN: 0012-4486            Impact factor:   2.379


  6 in total

1.  A multipurpose optical system for ophthalmic electrodiagnosis.

Authors:  J M Thijssen; A Pinckers; A J Otto
Journal:  Ophthalmologica       Date:  1974       Impact factor: 3.250

2.  Color vision and age.

Authors:  A Pinckers
Journal:  Ophthalmologica       Date:  1980       Impact factor: 3.250

3.  [Cone dysfunction and cone dystrophy. A dynamic classification (author's transl)].

Authors:  A Pinckers
Journal:  J Fr Ophtalmol       Date:  1979 Jun-Jul       Impact factor: 0.818

4.  Congenital X-linked incomplete achromatopsia. Evidence for slow progression, carrier fundus findings, and possible genetic linkage with glucose-6-phosphate dehydrogenase locus.

Authors:  J A Fleischman; F E O'Donnell
Journal:  Arch Ophthalmol       Date:  1981-03

5.  X-linked cone dystrophy. An overlooked diagnosis?

Authors:  A Pinckers; A F Deutman
Journal:  Int Ophthalmol       Date:  1987-08       Impact factor: 2.031

6.  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
  6 in total
  4 in total

1.  Berson test for blue cone monochromatism.

Authors:  A Pinckers
Journal:  Int Ophthalmol       Date:  1992-05       Impact factor: 2.031

2.  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

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

Authors:  J A van Everdingen; L N Went; J E Keunen; J A Oosterhuis
Journal:  J Med Genet       Date:  1992-05       Impact factor: 6.318

4.  What young people think and do when the option for cystic fibrosis carrier testing is available.

Authors:  J Mitchell; C R Scriver; C L Clow; F Kaplan
Journal:  J Med Genet       Date:  1993-07       Impact factor: 6.318

  4 in total

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