Ongoing and New Studies

Inherited Optic Nerve Coloboma Research – March 2016

OptiGen in collaboration with the research laboratory of Dr. Gustavo Aguirre at the University of Pennsylvania is interested in finding the modifier gene that determines the presence of colobomas in dogs affected with the Collie Eye Anomaly (CEA) and have tested positive for that gene defect. CEA is an autosomal recessive disease affecting a number of dog breeds. Even though not all of these breeds are collie related, the generic term CEA is used to phenotypically characterize the disease. The disease has 3 major phenotype components: choroidal hypoplasia (CH), coloboma/staphyloma/posterior scleral ectasia (coloboma) and retinal detachment. The frequency of the 3 phenotype components varies, with CH being most frequent, and detachments least frequent. The basic CEA lesion is, in fact, CH, and this abnormality must be present in dogs with coloboma and/or retinal detachment for the latter two severe conditions to be considered related to CEA. It should be noted that there are also other causes of coloboma and retinal detachment that are unrelated to CEA.
The molecular defect responsible for CEA has been previously identified as being caused by a 7.8 kb homozygous deletion in the NHEJ1 gene. Testing for this mutation informs on CH, but not on the other phenotype components of the disease. The working hypothesis is that colobomas result from a mutation or sequence change in a second modifier gene(s) that requires that the homozygous deletion in the NHEJ1 gene is present. The aim of this research is to identify the modifier locus/gene.
If you are interested in participating, please visit the OptiGen website ( and follow the link (Inherited Optic Nerve Coloboma Research - all breeds that carry CEA - March 17, 2016) for more information and the examination forms needed to enroll your patients in the study.

Request for Research Samples from Miniature* or Toy* Poodles diagnosed with Inherited Cataracts

or Optic Nerve Hypoplasia or Micropapilla - December 19, 2013

The Poodle Club of America Foundation, Inc. is supporting research aimed at identifying the molecular causes of Optic Nerve Hypoplasia & Micropapilla and Inherited Cataracts in miniature and toy poodles. OptiGen in collaboration with the research laboratory of Dr. Gustavo Aguirre at the University of Pennsylvania is collecting samples and clinical data on these diseases with the goal of developing diagnostic DNA tests for the conditions. Research samples from affected dogs are needed for this study. More complete information on the studies as well as research sample submission forms may be found through

* Please note we have focused this study in Miniature and Toy Poodles because it is in these varieties that Optic Nerve Hypoplasia, Micropapilla or Inherited Cataracts are more frequently found. However, if there are Standard Poodles diagnosed with Optic Nerve Hypoplasia, Micropapilla or Inherited Cataracts, we would be delighted to include samples from them as well for the research work.