Research update for Microphthalmia and Delayed Growth Syndrome project at University of Pennsylvania provides news that project is progressing and DNA samples on file will be submitted for a genome wide association study (GWAS). Researchers are particularly interested in DNA (blood) samples from affected puppies and producer parents. They are also very interested in obtaining samples from bitches and dogs that have been bred to known producers but have never produced any affected puppies themselves. Ideally, these (presumptive “clear”) breeding bitches or dogs would have produced over 16 normal puppies and no affected puppies when bred to known producers (carriers).
Report: As a direct result of a recent call for more samples, we now have complete eye exams from 28 affected dogs but blood work from only 11 dogs. Most of the 28 affected puppies were stunted in growth, and blood work in the 11 affected puppies indicated anemia, low hematocrit, and decreased platelet numbers. The most common eye abnormalities included microphthalmia, persistent pupillary membranes and cataracts. The recent call for samples from producer parents and affected puppies has resulted in almost doubling the sample numbers we had to date! The current DNA samples will be submitted for a genome wide association study and we anticipate having preliminary results by January 2019. We are still accepting samples and any medical records that might be available from affected puppies, even if there is no DNA sample associated with the medical record. We are particularly interested in samples from affected puppies and producer parents. We are also very interested in obtaining samples from bitches and dogs that have been bred to known producers but
have never produced any affected puppies themselves. Ideally, these (presumptive “clear”) breeding bitches or dogs would have produced over 16 normal puppies and no affected puppies when bred to known producers (carriers). These samples will help in the identification of the gene causing Puppy Eye Syndrome
