Microphthalmia Syndrome (MOS-PWD)

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Type: DNA

Sample Types: Cheek brushes/swabs or Fresh EDTA blood

Birth

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Sample Processing

Cost: $100.00

Species and Breeds
Canine - Portuguese Water Dog

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The disease is characterized by microphthalmia and other ocular abnormalities, such as persistent pupillary membranes, glaucoma, retinal degeneration and cataracts. Other signs may include stunted growth, decreased platelet counts, anemia, and possibly behavioral abnormalities.

Affected puppies are often euthanized due to the lack of vision, and in some instances to behavioral problems.

Autosomal recessive

Persistent pupillary membranes, glaucoma, retinal degeneration and cataracts.

Unpublished

Explanation of Results
Genotype Phenotype Interpretation
2-2 (Homozygous Disease Variant) Unhealthy (Affected) Homozygous Affecteds (2-2) are expected to develop signs consistent with Microphthalmia Syndrome (MOS-PWD) and all of their offspring will inherit a disease variant allele. Parents, offspring and relatives should also be tested. You may choose to contact us for a consultation on the management of this disease. 1 = Normal allele; 2 = Variant allele.
1-2 (Heterozygous) Healthy (Carrier) Heterozygous Carriers (1-2) are not expected to develop signs of Microphthalmia Syndrome (MOS-PWD) but each of their offspring has a chance of inheriting a disease variant allele. Parents, offspring and relatives should also be tested. 1 = Normal allele; 2 = Variant allele.
1-1 (Homozygous Normal) Healthy (Normal, Clear) Homozygous Normals (1-1) are not expected to develop signs of Microphthalmia Syndrome (MOS-PWD) and none of their offspring will inherit the disease variant allele. 1 = Normal allele; 2 = Variant allele.

Shaw GC, Tse MPY, Miller AD. Microphthalmia With Multiple Anterior Segment Defects in Portuguese Water Dogs. Vet Pathol. 2019 Mar;56(2):269-273. doi: 10.1177/0300985818794248. Epub 2018 Aug 21. PMID: 30131012.