Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies: five cases

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 biomic...

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Bibliographic Details
Published in:Veterinary ophthalmology 2011-09, Vol.14 (5), p.313-320
Main Authors: Komáromy, András M., Rowlan, Jessica S., La Croix, Noelle C., Mangan, Brendan G.
Format: Article
Language:English
Subjects:
Animals
anterior segment dysgenesis
equine multiple congenital ocular anomalies
Eye Diseases - congenital
Eye Diseases - genetics
Eye Diseases - pathology
Female
Gene Expression Regulation
Genotype
gp100 Melanoma Antigen - genetics
gp100 Melanoma Antigen - metabolism
Horse Diseases - genetics
Horse Diseases - pathology
Horses
Male
MCOA
Mutation
PMEL17
pony
silver dapple
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Summary: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.
ISSN:1463-5216
1463-5224
DOI:10.1111/j.1463-5224.2011.00878.x