Literature DB >> 3498700

X-linked cone dystrophy. An overlooked diagnosis?

A Pinckers1, A F Deutman.   

Abstract

The cone dystrophies can be subdivided into 3 functional stages: central cone disease, peripheral cone disease and diffuse cone disease, respectively. In the patient material of our clinic the sex distribution of patients presenting with te diffuse cone disease stage was abnormal: 22 males and 3 females. The authors suggest that the diagnosis X-linked cone dystrophy often is overlooked.

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Year:  1987        PMID: 3498700     DOI: 10.1007/BF00155631

Source DB:  PubMed          Journal:  Int Ophthalmol        ISSN: 0165-5701            Impact factor:   2.031


  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.  [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

3.  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

4.  Classification of complete and incomplete autosomal recessive achromatopsia.

Authors:  J Pokorny; V C Smith; A J Pinckers; M Cozijnsen
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  1982       Impact factor: 3.117

5.  Basic phenomena in acquired colour vision deficiency.

Authors:  A Pinckers; M Marré
Journal:  Doc Ophthalmol       Date:  1983-05-01       Impact factor: 2.379

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
  7 in total

1.  Scotopization and the Nagel-II anomaloscope.

Authors:  A Pinckers; M Marre
Journal:  Doc Ophthalmol       Date:  1991       Impact factor: 2.379

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 cone dystrophy.

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

4.  A 34-year-old man with visual complaints and a tapetal-like reflex.

Authors:  Joao C M L Ribeiro; Cynthia S Chiu; Christine Ament; John I Loewenstein
Journal:  Digit J Ophthalmol       Date:  2008-07-28

5.  X-linked cone-rod dystrophy (locus COD1): identification of mutations in RPGR exon ORF15.

Authors:  F Yesim K Demirci; Brian W Rigatti; Gaiping Wen; Amy L Radak; Tammy S Mah; Corrine L Baic; Elias I Traboulsi; Tiina Alitalo; Juliane Ramser; Michael B Gorin
Journal:  Am J Hum Genet       Date:  2002-02-20       Impact factor: 11.025

6.  A novel mutation in GRK1 causes Oguchi disease in a consanguineous Pakistani family.

Authors:  Maleeha Azam; Rob W J Collin; Muhammad Imran Khan; Syed Tahir Abbas Shah; Nadeem Qureshi; Muhammad Ajmal; Anneke I den Hollander; Raheel Qamar; Frans P M Cremers
Journal:  Mol Vis       Date:  2009-09-05       Impact factor: 2.367

7.  X linked progressive cone dystrophy. Localisation of the gene locus to Xp21-p11.1 by linkage analysis.

Authors:  F M Meire; A A Bergen; A De Rouck; M Leys; J W Delleman
Journal:  Br J Ophthalmol       Date:  1994-02       Impact factor: 4.638

  7 in total

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