Peer-reviewed veterinary case report
Genetic testing for Collie Eye Anomaly and retinal disease in Collie
By Bučan, Jaroslav et al.·Published in Genes·2025·Department of Biology and Physiology·View original on PubMed →
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Original publication title: Analysis of Selected Eye Disorders in a Group of Predisposed Breeds of Dogs: Molecular Diagnostics of Collie Eye Anomaly and Progressive Retinal Atrophy.
- Species:
- dog
Plain-English summary
A group of Collies and related breeds, including Australian Shepherds and Shetland Sheepdogs, were tested for two inherited eye disorders: Collie Eye Anomaly (CEA) and Progressive Retinal Atrophy (PRA). CEA can cause vision problems due to abnormal eye development, and genetic testing revealed that 31 of the dogs had the mutation linked to this condition, with 15 being affected and 16 being carriers. However, no mutations were found for the RCD3 type of PRA in these breeds. This genetic testing can help identify affected dogs early and manage breeding practices to reduce the risk of these eye disorders.
People also search for: Collie Eye Anomaly symptoms · dog eye problems genetic testing · Progressive Retinal Atrophy in Australian Shepherds
Abstract
BACKGROUND: Two hereditary eye disorders that are frequently observed in Collies and related breeds are Collie Eye Anomaly (CEA) and Progressive Retinal Atrophy (PRA). The main symptom of CEA is choroidal hypoplasia. It is associated with a 7.8 kb deletion in intron 4 of thegene located on chromosome CFA7. Rod-cone dysplasia 3 (RCD3), an early-onset form of PRA, is associated with mutations in thegene. METHODS: Molecular diagnostic techniques were used in this study to identify genetic mutations linked to CEA and RCD3-type PRA in a subset of dog breeds. Australian Shepherds (n = 29), Border Collies (n = 9), Longhaired Collies (n = 27), and Shetland Sheepdogs (n = 10) provided a total of 75 DNA samples. Samples were collected by buccal swab or blood draw, and PCR and real-time PCR methods were used for processing. RESULTS: Of the dogs in the studied breeds, 31 had thegene mutation linked to CEA. Among these, 15 were homozygous recessive (affected), while 16 were heterozygous (carriers). None of the samples had any mutations in thegene associated with RCD3-type PRA. CONCLUSIONS: Effective identification of carriers and affected individuals for CEA was made possible by PCR-based genetic testing, confirming its value in early diagnosis and breed control. Although the RCD3 form of PRA has not been previously reported in Collies or Australian Shepherds, it was included in our analysis due to the genetic relatedness among herding breeds and the potential presence of undetected carriers resulting from historical crossbreeding.
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Search related cases →Original publication on PubMed: https://pubmed.ncbi.nlm.nih.gov/40428296/