Multiple congenital ocular anomalies syndrome in a family of Shetland and Deutsches Classic ponies in Belgium



The multiple congenital ocular anomalies (MCOA) syndrome has been associated with the Silver phenotype only in a few equine breeds. This report describes the phenotypic and genotypic characteristics of MCOA in a family of Silver-coated Shetland ponies including a 20-year-old stallion, 17-year-old mare and their 1.5-year-old female offspring. Another 7-year-old Silver female Deutsches Classic Pony descending from the same dam but from a different sire, was also examined. Each pony underwent a complete ophthalmic examination, tonometry, ocular ultrasonography and genotyping for the silver coat colour. The stallion had a thickened iris, temporal retinal atrophy and bilateral iridociliary and peripheral retinal cysts. All females presented more severe anomalies: cornea globosa, iridocorneal adhesions, miosis, hypoplastic granula iridica and poorly responsive pupils to light and to pharmacological mydriasis. Iris hypoplasia, anterior cortical cataracts and temporal retinal atrophy were detected in 2 mares. One female presented bilateral lens subluxation. Supero-temporal cystic structures were confirmed ultrasonographically in all ponies. The stallion was heterozygous for the Silver mutation, whereas all females were homozygous. This is the first report of the MCOA syndrome in a family of Shetland ponies and a Deutsches Classic Pony in association with the Silver phenotype, in Europe.