Literature DB >> 1583655

Late onset dominant cone dystrophy with early blue cone involvement.

L N Went1, M J van Schooneveld, J A Oosterhuis.   

Abstract

A dominant cone dystrophy spanning seven generations was found in a pedigree from the Netherlands. The onset of the decline of visual acuity started after the age of 20, while a near complete absence of blue cone function (a so-called tritan defect) already existed before the presence of any ophthalmological abnormalities.

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Year:  1992        PMID： 1583655      PMCID： PMC1015947          DOI： 10.1136/jmg.29.5.295

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


  8 in total

1.  Design of diagnostic tests for congenital and acquired colour vision defects.

Authors:  J Birch-Cox
Journal:  Mod Probl Ophthalmol       Date:  1976

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.  Dominant cone dystrophy starting with blue cone involvement.

Authors:  M J van Schooneveld; L N Went; J A Oosterhuis
Journal:  Br J Ophthalmol       Date:  1991-06       Impact factor: 4.638

4.  Increment spectral sensitivity of hemizygotes and heterozygotes for different classes of colour vision.

Authors:  E C de Vries-de Mol; L N Went; D van Norren; L C Pols
Journal:  Mod Probl Ophthalmol       Date:  1978

5.  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

6.  New test for the detection of tritan defects evaluated in two surveys.

Authors:  D van Norren; L N Went
Journal:  Vision Res       Date:  1981       Impact factor: 1.886

7.  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

8.  The genetics of tritan disturbances.

Authors:  L N Went; N Pronk
Journal:  Hum Genet       Date:  1985       Impact factor: 4.132
  8 in total
  2 in total

1.  Localisation of the human blue cone pigment gene to chromosome band 7q31.3-32.

Authors:  J Fitzgibbon; B Appukuttan; S Gayther; D Wells; J Delhanty; D M Hunt
Journal:  Hum Genet       Date:  1994-01       Impact factor: 4.132

2.  GUCY2D-Related Retinal Dystrophy with Autosomal Dominant Inheritance-A Multicenter Case Series and Review of Reported Data.

Authors:  Jonas Neubauer; Leo Hahn; Johannes Birtel; Camiel J F Boon; Peter Charbel Issa; M Dominik Fischer
Journal:  Genes (Basel)       Date:  2022-02-08       Impact factor: 4.096
  2 in total

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