Molecular Genetic Study of Optic Nerve Hypoplasia (ONH)
and Micropapilla (Mp) in the Miniature* and Toy* Poodle
The Poodle Club of America Foundation, Inc.
Gustavo Aguirre, VMD, PhD
University of Pennsylvania
The Poodle Club of America Foundation, Inc. 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 ONH and Mp, and develop a DNA-based diagnostic test that can be used to identify dogs that are genetically normal or are at risk to transmit the undesirable genetic defect to their progeny. By judiciously using the DNA test information, breeders can minimize the risk of producing affected dogs while maintaining the genetic diversity of the breed.
ONH is a rare genetic defect in which the optic nerve fails to develop normally, leading to blindness; one or both eyes may be affected. Although autosomal recessive inheritance is suspected, there is insufficient genetic information to date to validate the mode of inheritance. It is likely that disease predisposition is controlled by one gene while the additional modifying gene(s) influence the expression and severity of the disease. Mp may be part of the same disease continuum in which dogs with apparently "hypoplastic" optic nerves on clinical examination retain normal vision and pupillary light responses (PLR), and optic nerve structure is normal behind the globe. Only by well focused research study can these issues be resolved and DNA based test(s) developed.
Your help is needed
To carry out this study we need the assistance of dog owners/breeders, as well as board certified veterinary ophthalmologists (ACVO, ECVO) so that samples for the research study can be definitely ascertained. We are very grateful for your interest in participating in the present research study. Please make sure that only one form is used for each study dog.
A research form for submitting samples and information for this study can be found by clicking on ONH/Mp Research 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, fundus 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 Dr. Leonardo Murgiano c/o Lydia Melnyk
School of Veterinary Medicine University of Pennsylvania 3900 Delancey St. Ryan
#2050 Philadelphia, PA 19104-6010. Please phone 215-898-9426 or email email@example.com with any
questions on sample submission.
NOTE: all the information provided for this study is CONFIDENTIAL and will not be disclosed.
* Please note we have focused this study in Miniature and Toy Poodles because it is in these varieties that Optic Nerve Hypoplasia or Micropapilla are more frequently found. However, if there are Standard Poodles diagnosed with Optic Nerve Hypoplasia or Micropapilla, we would be delighted to include samples from them as well for the research work.