02403-MOU: Microphthalmia and Delayed Growth Syndrome in the Portuguese Water Dog

Grant Status: Open

Grant Amount: $12,960
Margret L Casal, DVM, PhD; University of Pennsylvania
November 1, 2017 - October 31, 2022

Sponsor(s): Portuguese Water Dog Foundation, Inc. and Portuguese Water Dog Club of America

Breed(s): Portuguese Water Dog
Research Program Area: Ophthalmology
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Microphthalmia and delayed growth syndrome (aka "puppy eye syndrome") has been reported by Portuguese Water Dog breeders dating as far back as 1986. However, there is no information in the scientific literature and the majority of data concerning this syndrome has been obtained from records of breeders, which have anecdotal reports of the disease and little, if any, medical diagnostics. Affected dogs present with microphthalmia of varying severity, other eye abnormalities, short stature and other findings. To date, the investigators have been able to collect DNA from 24 affected dogs. Males and females can be affected, although females predominate (about 70%). Preliminary pedigree studies suggest an autosomal recessive inheritance. Human literature reports numerous syndromes associated with microphthalmia, and many genes have been identified as having a causative role. The goals of this investigation are to better characterize the clinical syndrome seen in Portuguese Water Dogs, confirm a suspected mode of inheritance, obtain additional samples for investigation into the genetic mutation, and develop a mutation based, genetic test for breeders to eliminate this syndrome from the Portuguese Water Dog breed.

Funding for the research is provided through the collaborative efforts and generosity of the Portuguese Water Dog Foundation, Inc., and the Portuguese Water Dog Club of America. The AKC Canine Health Foundation supports the funding of this effort and will oversee grant administration and scientific progress.


Leonardo Murgiano, Esha Banjeree, Cynthia O'Connor, Keiko Miyadera, Petra Werner, Jessica K Niggel, Gustavo D Aguirre, Margret L Casal, A naturally occurring canine model of syndromic congenital microphthalmia, G3 Genes|Genomes|Genetics, 2024;, jkae067, https://doi.org/10.1093/g3journal/jkae067

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