Literature DB >> 29440971

A 19-month-old girl with nystagmus, paradoxical pupillary response and low vision.

Sandra Rocio Montezuma1.   

Abstract

Entities:  

Year:  2008        PMID： 29440971      PMCID： PMC5798161          DOI： 10.5693/djo.03.2008.004

Source DB:  PubMed          Journal:  Digit J Ophthalmol        ISSN： 1542-8958


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  9 in total

1.  Pingelapese achromatopsia: correlation between paradoxical pupillary response and clinical features.

Authors:  G J Ben Simon; F A Abraham; S Melamed
Journal:  Br J Ophthalmol       Date:  2004-02       Impact factor: 4.638

2.  Clinical vision characteristics of the congenital achromatopsias. I. Visual acuity, refractive error, and binocular status.

Authors:  G Haegerstrom-Portnoy; M E Schneck; W A Verdon; S E Hewlett
Journal:  Optom Vis Sci       Date:  1996-07       Impact factor: 1.973

3.  CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

Authors:  Susanne Kohl; Balazs Varsanyi; Gesine Abadin Antunes; Britta Baumann; Carel B Hoyng; Herbert Jägle; Thomas Rosenberg; Ulrich Kellner; Birgit Lorenz; Roberto Salati; Bernhard Jurklies; Agnes Farkas; Sten Andreasson; Richard G Weleber; Samuel G Jacobson; Günther Rudolph; Claudio Castellan; Helene Dollfus; Eric Legius; Mario Anastasi; Pierre Bitoun; Dorit Lev; Paul A Sieving; Francis L Munier; Eberhart Zrenner; Lindsay T Sharpe; Frans P M Cremers; Bernd Wissinger
Journal:  Eur J Hum Genet       Date:  2005-03       Impact factor: 4.246

4.  CNGA3 mutations in hereditary cone photoreceptor disorders.

Authors:  B Wissinger; D Gamer; H Jägle; R Giorda; T Marx; S Mayer; S Tippmann; M Broghammer; B Jurklies; T Rosenberg; S G Jacobson; E C Sener; S Tatlipinar; C B Hoyng; C Castellan; P Bitoun; S Andreasson; G Rudolph; U Kellner; B Lorenz; G Wolff; C Verellen-Dumoulin; M Schwartz; F P Cremers; E Apfelstedt-Sylla; E Zrenner; R Salati; L T Sharpe; S Kohl
Journal:  Am J Hum Genet       Date:  2001-08-30       Impact factor: 11.025

5.  Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2).

Authors:  I A Aligianis; T Forshew; S Johnson; M Michaelides; C A Johnson; R C Trembath; D M Hunt; A T Moore; E R Maher
Journal:  J Med Genet       Date:  2002-09       Impact factor: 6.318

6.  Electroretinograms in patients with achromatopsia.

Authors:  S Andréasson; K Tornqvist
Journal:  Acta Ophthalmol (Copenh)       Date:  1991-12

Review 7.  The cone dysfunction syndromes.

Authors:  M Michaelides; D M Hunt; A T Moore
Journal:  Br J Ophthalmol       Date:  2004-02       Impact factor: 4.638

Review 8.  The cone dystrophies.

Authors:  M P Simunovic; A T Moore
Journal:  Eye (Lond)       Date:  1998       Impact factor: 3.775

9.  Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.

Authors:  S Kohl; T Marx; I Giddings; H Jägle; S G Jacobson; E Apfelstedt-Sylla; E Zrenner; L T Sharpe; B Wissinger
Journal:  Nat Genet       Date:  1998-07       Impact factor: 38.330
  9 in total

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