Inherited eye diseases have been the subject of genetic research for many years. This paper focuses on the optimisation of the DNA test based on the polymerase chain reaction (PCR) for the detection of Collie Eye Anomaly (CEA) in dogs. A small family of four longhaired Collies (parents and their...

Background: A 7.8-kb deletion in intron 4 of the NHEJ1 canine gene is associated with Collie Eye Anomaly (CEA). This deletion has been described in sheep-herding breeds related to the collie lineage and in several other dog breeds. A genetic test based on this association can distinguish three...

Background and Aim: Collie eye anomaly (CEA) is a hereditary and congenital ocular disorder, which affects several dog breeds, including Collies, Collie-related breeds, and other purebreds. An intronic deletion of 7799-bp in the non-homologous end-joining factor 1 (NHEJ1) gene has been identified...

Background: To report the occurrence of choroidal hypoplasia in the Australian Kelpie breed in Poland, the affected dogs testing positive for the Collie Eye Anomaly NHEJ1 gene mutation. Case presentations: Choroidal hypoplasia (CH) was initially diagnosed in a young female Australian Kelpie...

Collie eye anomaly (CEA) is a hereditary, congenital eye disease mainly affecting Collies but also occurs in other breeds. The genetic background is unclear. Chorioretinal dysplasia (CRD) and coloboma are the two primary changes in CEA. Colobomas and secondary lesions can give rise to visual...

Collie eye anomaly (CEA) is an inherited, congenital ocular disorder caused by a defective mesodermal differentiation in the posterior segment of the eye. Major ocular finding of CEA is abnormalities of choroidal vessels, that is choroidal hypoplasia. Indocyanine green angiography (IA) is one of...

The aim of this study was to investigate the existence of parallel and simultaneous selection for the collie eye anomaly (CEA) and the ivermectin toxicosis MDR1 gene mutation in different dog breeds in Japan. 1331 DNA samples were collected from Collies, Border Collies, Salukis, Toy Poodles,...

Background: This study describes the presence and frequency of health traits among three populations of dogs traditionally used for sledding and explores their ancestry and breed composition as provided by the commercially available Embark dog DNA test. The three populations include the purebred...

Objective: To describe the frequency of the nonhomologous end-joining factor 1 (NHEJ1) 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....

Collie eye anomaly (CEA) is an inherited congenital visual impairment with heterogeneous signs. The first symptoms are already visible in the early embryo. Among the most affected breeds are Collies and Shetland Sheepdogs but the disease has spread to different breeds depending on the country of...