Molecular Genetic Study of Inherited Cataracts in the Cocker Spaniel
The American Spaniel Club Foundation and Gustavo Aguirre, VMD, PhD University of Pennsylvania and OptiGen, LLC
The American Spaniel Club Foundation has funded a three year research study to be carried out at the University of Pennsylvania and OptiGen, LLC to identify the molecular genetic basis of inherited cataracts, and develop a DNA-based diagnostic test that can be used to identify dogs that are genetically normal, carriers or affected. By judiciously using the DNA test information, breeders can minimize the risk of producing affected dogs while maintaining the genetic diversity of the breed.
In the Cocker Spaniel some types of cataracts are an inherited condition which is characterized by loss of transparency in the lens when dogs are young adults/adult. Although some individuals use the term 'Juvenile Cataracts" to imply a genetically inherited defect, the appropriate term for the disease is Inherited Cataracts. Dogs with inherited cataracts are born with normal lenses, which then proceeds to degenerate over time, leading to visual impairment and then blindness later in life. The age range generally is variable, and the disease begins sometime between 2-5 years of age, and progresses; the rate of progression and severity of the disease can vary between affected dogs. The mode of inheritance is not known, although autosomal recessive inheritance is likely; there are no gene-based tests available. We propose to carry out a focused study on inherited cataracts Cocker Spaniels with the aim of identifying the gene/mutation responsible for the disease.
Your help is needed:
research form for submitting samples and information for this study can be
found by clicking Inherited Cataracts in Cocker
Spaniels form. The owner should complete the first section of owner
and dog information. The second section of the form requests the examining
ophthalmologist to provide brief clinical descriptions and, if possible,
clinical photographs. Along with the completed form, we need a copy of the
dog’s pedigree (5-6 generations), any current/previous eye exam records, and
3-5 ml of whole unclotted blood in EDTA to be sent to OptiGen 767 Warren Rd.
Ithaca NY 14850. Please call OptiGen 607-257-0301 or email firstname.lastname@example.org any questions on sample submission.
NOTE: all the information provided for this study is CONFIDENTIAL and will not be disclosed.
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