02959: Genetic Basis of non-HSF4 Hereditary Cataracts in a Family of Miniature American Shepherds

Grant Status: Open

Grant Amount: $31,434
Kari Ekenstedt, DVM, PhD; Purdue University
October 1, 2021 - September 30, 2024


Breed(s): Miniature American Shepherd
Research Program Area: Ophthalmology
Donate to Support this Research Program Area


Hereditary cataracts (HC) are one of the leading causes of blindness in dogs, observed in almost one hundred breeds. To date, only two genetic tests are available for HC, and they are only applicable to a small number of breeds. Both tests are in the same gene (called HSF4); one applies to Boston Terriers, French Bulldogs, and Staffordshire Bull Terriers and the other applies to Australian Shepherds. However, neither test explains all of the HC in these breeds. Miniature American Shepherds (MAS) are a breed developed out of the Australian Shepherds and investigators have recently collected DNA samples from a family of MAS containing multiple dogs affected with severe, rapidly progressive, adult-onset HC that were not explained by the available HSF4 Australian Shepherd test. The cataracts progressed so quickly that each affected dog required corrective surgery within months of diagnosis. Researchers will use this MAS family to search for new disease-associated genetic variants, via whole-genome sequencing. Once such a disease-associated mutation is identified, they will use additional MAS with known HC status to validate the mutation, and then establish the prevalence of that mutated allele in the breed at large. Investigators will also see if the mutated allele is present in Australian Shepherds. This study’s goal is to create a new genetic test for HC to help reduce the frequency of HC in the MAS and potentially other breeds.


None at this time.

Help Future Generations of Dogs

Participate in canine health research by providing samples or by enrolling in a clinical trial. Samples are needed from healthy dogs and dogs affected by specific diseases.

Learn How to Help

Get Canine Health News:
Please leave this field empty
American Kennel Club Canine Health Foundation, Inc

8051 Arco Corporate Dr.
Suite 300
Raleigh, NC 27617

Tax ID# 13-3813813


© 2021 AKC Canine Health Foundation | Privacy Policy | Site Map

Site by Blackbaud, Inc.