Collie Eye Anomaly and Coloboma Study
Jessica Niggel from The Sylvia M. Van Sloun Laboratory for Canine Genomic Analysis at University Of Pennsylvania is conducting a study looking for the causative genes and mutations responsible for Collie Eye Anomaly (CEA) and Coloboma in Collies and Nova Scotia Duck Tolling Retrievers.
A genetic test for CEA would contribute to the continued future health of the breed. She has reached out to the club seeking participants to help build a dataset to test, we need both healthy and diagnosed dogs in this study.
Please fill out the form below if you would like to participate. It’s nearly free to participate (You pay the return postage for the DNA sample kit.)
The main focus of our study is looking for the causative genes and mutations responsible for Collie Eye Anomaly (CEA) and Coloboma in different Collies and Nova Scotia Duck Tolling Retrievers.
CEA and coloboma are more prevalent in the Collie populations, however Tollers are also affected. The biggest difference between Collies and Tollers and these ophthalmic disorders is that Collies develop CEA, or CEA with coloboma; whereas Tollers can develop CEA only, CEA and coloboma together, or coloboma only (something not seen in collies).
Our lab would love to see what causes this disorder, why in some cases only CEA or coloboma is present and in some CEA and coloboma develop together, and if there are differences between the breeds. CEA by itself usually does not disturb the dogs vision too much.
Coloboma on the other hand can be more problematic, and dogs with the disorder are more likely to develop retinal problems (such as retinal detachment or atrophy), which can lead to secondary issues such as glaucoma or blindness.
We hope that ultimately we would be able to develop genetic tests for breeders and owners to use, as well as to give an accurate statement on the mode of inheritance for these disorders.
Jessica Niggel, M.Sc.
Research Scientist
Sylvia M. Van Sloun Laboratory for Canine Genomic Analysis Section of Ophthalmology
Department of Clinical Sciences & Advanced Medicine University of Pennsylvania
3900 Delancey St. Ryan #2024
Philadelphia, PA 19104-6010
phone: 215-898-5452
email: jniggel@upenn.edu