Achromatopsia in three sibling Labrador Retrievers in the UK.
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.
Veterinary Vision Ophthalmic Referrals, Onsala Building, Ullswater Road, Penrith, Cumbria, CA11 7EH, UK.
Christopher J
CJ
Dixon
D000818:Animals; D003117:Color Vision Defects / Q000453:epidemiology / Q000235:genetics / Q000662:veterinary*; D054815:Cyclic Nucleotide-Gated Cation Channels / Q000235:genetics / Q000378:metabolism; D004283:Dog Diseases / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics; D004285:Dogs; D005260:Female; D017353:Gene Deletion; D020022:Genetic Predisposition to Disease; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D006113:United Kingdom / Q000453:epidemiology
D054815:Cyclic Nucleotide-Gated Cation Channels
CNGB3 gene; achromatopsia; day blindness; dog; electroretinography; hemeralopia