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Compliance between clinical and genetic diagnosis of choroidal hypoplasia in 103 Norwegian Border Collie puppies
Author(s) -
Grosås Siv,
Lingaas Frode,
Prestrud Kristin Wear,
Ropstad ErnstOtto
Publication year - 2018
Publication title -
veterinary ophthalmology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.594
H-Index - 50
eISSN - 1463-5224
pISSN - 1463-5216
DOI - 10.1111/vop.12520
Subject(s) - puppy , hypoplasia , buccal swab , medicine , allele , biology , genetics , gene , ecology
Objective To describe the frequency of the nonhomologous end‐joining factor 1 ( NHEJ 1) mutation and the compliance between clinical and genetic diagnosis of choroidal hypoplasia ( CH ) in a group of Norwegian Border Collies. Animals studied Border collie puppies in the age from 5 to 8 weeks. Material and methods Puppies included in the study had a complete ophthalmological examination. All findings were recorded, and an ECVO scheme form was issued for each puppy. DNA samples were achieved from buccal swabs. Genetic typing was performed for the 7.8‐kb deletion in the gene encoding NHEJ 1. Dogs with none, one, or two copies of the mutated allele were classified as free, carriers, and affected, respectively. Results 103 Border Collie puppies from 16 litters, 52 females and 51 males, were included in the study. Ages ranged from 5.1 to 8.9 weeks. One puppy had clinical findings consistent with CH and optic nerve coloboma compatible with the diagnosis Collie Eye Anomaly ( CEA ). Findings on ophthalmological examination of the remaining puppies were within normal limits. On genetic testing, 85 puppies were clear of the mutation in the NHEJ 1 gene, 17 puppies were carriers, and one puppy was genetically affected. Conclusions A good compliance between the clinical diagnosis and the genetic test results was found in all of the puppies examined. The allele frequency of the mutation was 6.3%.