Literature DB >> 25752464

Achromatopsia in three sibling Labrador Retrievers in the UK.

Christopher J Dixon1.   

Abstract

Achromatopsia was identified in three Labrador Retriever littermates. The dogs demonstrated day blindness, negotiating obstacles under low-light conditions, but apparently blind when outdoors. One of the dogs presented with immature bilateral diffuse posterior cortical cataracts and clinical signs of day blindness became apparent following cataract extraction surgery. Electroretinography demonstrated an absence of a cone photoreceptor response to a bright stimulus and a flicker response of 30 Hz in all three dogs. No fundic lesions have been apparent ophthalmoscopically in any of the dogs as the initial presentation of each case. No abnormalities were detected with DNA screening for known mutations of the CNGB3 gene in any of the dogs.
© 2015 American College of Veterinary Ophthalmologists.

Entities:  

Keywords:  CNGB3 gene; achromatopsia; day blindness; dog; electroretinography; hemeralopia

Mesh:

Substances:

Year:  2015        PMID: 25752464     DOI: 10.1111/vop.12265

Source DB:  PubMed          Journal:  Vet Ophthalmol        ISSN: 1463-5216            Impact factor:   1.644


  3 in total

1.  Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment.

Authors:  Naoto Tanaka; Emily V Dutrow; Keiko Miyadera; Lucie Delemotte; Christopher M MacDermaid; Shelby L Reinstein; William R Crumley; Christopher J Dixon; Margret L Casal; Michael L Klein; Gustavo D Aguirre; Jacqueline C Tanaka; Karina E Guziewicz
Journal:  PLoS One       Date:  2015-09-25       Impact factor: 3.240

Review 2.  Achromatopsia: Genetics and Gene Therapy.

Authors:  Stylianos Michalakis; Maximilian Gerhardt; Günther Rudolph; Siegfried Priglinger; Claudia Priglinger
Journal:  Mol Diagn Ther       Date:  2021-12-03       Impact factor: 4.074

Review 3.  Impact of gene therapy for canine monogenic diseases on the progress of preclinical studies.

Authors:  Marek Switonski
Journal:  J Appl Genet       Date:  2020-03-18       Impact factor: 3.240

  3 in total

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