Peer-reviewed veterinary case report
Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies: five cases.
- Journal:
- Veterinary ophthalmology
- Year:
- 2011
- Authors:
- Komáromy, András M et al.
- Affiliation:
- Department of Clinical Studies · United States
- Species:
- horse
Plain-English summary
This study looked at five ponies with a genetic condition called Multiple Congenital Ocular Anomalies (MCOA), which affects their eyes. The ponies were examined in their barn using special equipment to check their eye health, and blood samples were taken to analyze their genetics. One pony had a milder form of the condition with cysts in its eyes, while the other four had more serious eye problems, including cataracts and issues with the iris. Most of the ponies had a distinctive silver or chocolate coat color, which is linked to the genetic mutation causing MCOA. Overall, the findings suggest that this eye condition can occur in ponies, similar to what has been seen in certain horse breeds.
Abstract
OBJECTIVE: To describe the clinical phenotype and genetics of equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies. ANIMALS STUDIED: Five presumably unrelated ponies. PROCEDURES: The ponies were examined under field conditions in their barn by slit lamp biomicroscopy, indirect ophthalmoscopy, and applanation tonometry. Blood was collected and genomic DNA extracted for MCOA genotyping using the PMEL17ex11 marker. RESULTS: One pony solely presented with temporal ciliary body cysts, suggestive of the less severe Cyst phenotype of MCOA; the animal was heterozygous at the MCOA locus. Multiple bilateral anterior segment anomalies were identified in four ponies, consistent with the more severe MCOA phenotype characterized by cornea globosa, iris hypoplasia, encircling granula iridica along the pupillary ruff, and cataracts. These animals were homozygous for the mutant MCOA allele. Four of the ponies had a silver dapple or chocolate coat color with white or flaxen manes and tails. Silver dappling was masked by the palomino coloring of a 5th pony that was homozygous at the MCOA locus. CONCLUSIONS: The MCOA syndrome can be seen in ponies. The results of both clinical evaluation and genotyping resembled the previously described MCOA of both Rocky Mountain and Kentucky Mountain Saddle horses.
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Search related cases →Original publication: https://pubmed.ncbi.nlm.nih.gov/21929608/