258
EQUINE VETERINARY EDUCATION / AE / MAY 2015
Although no gene analysis has been done on the horse in
this case, the severity of the lesions clearly suggests that this horse was homozygous for the mutant allele. The cysts in this case were only present on the ciliary processes and no iridal hypoplasia or retinal dysplasia was seen. In Rocky Mountain horses, codominant inheritance with incomplete penetrance of the defective gene has been suggested (Ewart et al. 2000), which may explain why not all of the previously reported lesions were seen in the present case, assuming that the same inheritance pattern is present in Comtois horses as in Rocky Mountain Horses. As stated by Matthews (2013), ultrasonography is
particularly valuable for diagnosing heterozygous cyst phenotypes, which otherwise are clinically undetectable. The latter is important, as confirmation of the carrier status of animals is crucial for progressively reducing the incidence of this disease in the horse population (Matthews 2013). In the present case, post mortem MRI was performed for
teaching and academic purposes. At least theoretically, in selected cases of ophthalmic disease, the high soft tissue contrast and cross-sectional anatomic detail of MRI of (peri)ocular structures could provide the clinician with additional diagnostic and prognostic information compared to standard diagnostic tools (Holmes 2014). In human medicine, MRI is used for visualisation of the cranial and intraorbital nerves, identification of ocular and orbital tumours, assessment of blood oxygenation of the retina, studying diffusion pathways of pharmaceuticals in the eye after intravenous contrast injection and, ultimately, for providing physiological information beyond anatomy (functional MRI) (Townsend et al. 2008). However, in horses, practical issues mainly associated with limitations in coil size and with the need for general anaesthesia, preclude widespread application of this technique thus far, and, at present, equine MRI is unlikely to contribute unique information that will alter patient management. Additional magnetic resonance studies on diseased eyes and orbits are needed to determine the value of this imaging tool in equine ophthalmology (Gilger and Stoppini 2011). In conclusion, the present report documents the macroscopic, ultrasonographic and MRI findings in a histologically confirmed case of MCOA. With further development and availability of MRI technology for horses, this technique may provide additional diagnostic information in clinical cases with (peri)ocular pathology.
Authors’ declaration of interests No conflicts of interest have been declared.
Manufacturers’ addresses
1Thea Pharma, Wetteren, Belgium. 2Boehringer Ingelheim, Brussels, Belgium. 3Sterop, Brussels, Belgium.
4AstraZeneca, Brussels, Belgium. 5Ursapharm, Saarbrücken, Germany. 6Kowa Optimed Europe, Berkshire, UK. 7Mila International, Erlanger, Kentucky, USA. 8Allergan Pharmaceuticals, Westport, Ireland. 9Alcon, Vilvoorde, Belgium. 10Zambon, Bresso, Italy. 11MSD Animal Health, Brussels, Belgium. 12Hitachi Medical Corporation, Yokohama, Japan.
References
Andersson, L.S., Axelsson, J., Dubielzig, R.R., Lindgren, G. and Ekesten, B. (2011) Multiple congenital ocular anomalies in Icelandic horses. BMC Vet. Res. 7, 21.
Andersson, L.S., Juras, R., Ramsey, D.T., Eason-Butler, J., Ewart, S., Cothran, G. and Lindgren, G. (2008) Equine Multiple Congenital Ocular Anomalies maps to a 4.9 megabase interval on horse chromosome 6. BMC Genet. 9, 88.
Andersson, L.S., Wilbe, M., Viluma, A., Cothran, G., Ekesten, B., Ewart, S. and Lindgren, G. (2013) Equine multiple congenital ocular anomalies and silver coat colour result from the pleiotropic effects of mutant PMEL. PLoS ONE 8, e75639.
Brunberg, E., Andersson, L., Cothran, G., Sandberg, K., Mikko, S. and Lindgren, G. (2006) A missense mutation in PMEL17 is associated with the silver coat color in the horse. BMC Genet. 7, 46.
Depecker, M., Ségard, E. and Cadoré, J.L. (2013) Phenotypic description of multiple congenital ocular anomalies in Comtois horses. Equine Vet. Educ. 25, 511-516.
Ewart, S.L., Ramsey, D.T. and Meyers, D. (2000) The horse homolog of congenital aniridia conforms to codominant inheritance. J. Hered. 91, 93-98.
Gilger, B.C. and Stoppini, R. (2011) Equine ocular examination: routine and advanced diagnostic techniques. In: Equine Ophthalmology, 2nd edn., Ed: B.C. Gilger, Elsevier Saunders, St Louis. pp 1-51.
Grahn, B.H., Pinard, C., Archer, S., Bellone, R., Forsyth, G. and Sandmeyer, L.S. (2008) Congenital ocular anomalies in purebred and crossbred Rocky and Kentucky Moutain horses in Canada. Can. Vet. J. 49, 675-681.
Holmes, S.P. (2014) Equine skull magnetic resonance imaging: the where, when and why? Equine Vet. Educ. 26, 605-609.
Komáromy, A.M., Rowlan, J.S., La Croix, N.C. and Mangan, B.G. (2011) Equine Multiple Congenital Ocular Anomalies (MCOA) syndrome in PMEL17 (Silver) mutant ponies: five cases. Vet. Ophthalmol. 14, 313-320.
Matthews, A.G. (2013) Multiple congenital ocular anomalies and the silver dapple gene. Equine Vet. Educ. 25, 556-557.
Plummer, C.E. and Ramsey, D.T. (2011) A survey of ocular abnormalities in Miniature Horses. Vet. Ophthalmol. 14, 239-243.
Premont, J.E., Andersson, L. and Grauwels, M. (2013) Multiple congenital ocular anomalies syndrome in a family of Shetland and Deutshces Classic ponies in Belgium. Equine Vet. Educ. 25, 550-555.
Ramsey, D.T., Ewart, S.L., Render, J.A., Cook, C.S. and Latimer, C.A. (1999) Congenital ocular abnormalities of Rocky Mountain Horses. Vet. Opthalmol. 2, 47-59.
Ségard, E.M., Depecker, M.C., Lang, J., Gemperli, A. and Cadore, J.L. (2013) Ultrasonographic features of PMEL17 (Silver) mutant gene-associated multiple congenital ocular anomalies (MCOA) in Comtois and Rocky Mountain horses. Vet. Ophthalmol. 16, 429-435.
Townsend, K.A., Wollstein, G. and Schuman, J.S. (2008) Clinical application of MRI in ophthalmology. NMR Biomed. 21, 997-1002.
© 2015 EVJ Ltd
Page 1 |
Page 2 |
Page 3 |
Page 4 |
Page 5 |
Page 6 |
Page 7 |
Page 8 |
Page 9 |
Page 10 |
Page 11 |
Page 12 |
Page 13 |
Page 14 |
Page 15 |
Page 16 |
Page 17 |
Page 18 |
Page 19 |
Page 20 |
Page 21 |
Page 22 |
Page 23 |
Page 24 |
Page 25 |
Page 26 |
Page 27 |
Page 28 |
Page 29 |
Page 30 |
Page 31 |
Page 32 |
Page 33 |
Page 34 |
Page 35 |
Page 36 |
Page 37 |
Page 38 |
Page 39 |
Page 40 |
Page 41 |
Page 42 |
Page 43 |
Page 44 |
Page 45 |
Page 46 |
Page 47 |
Page 48 |
Page 49 |
Page 50 |
Page 51 |
Page 52 |
Page 53 |
Page 54 |
Page 55 |
Page 56 |
Page 57 |
Page 58 |
Page 59 |
Page 60 |
Page 61 |
Page 62 |
Page 63 |
Page 64 |
Page 65 |
Page 66 |
Page 67 |
Page 68 |
Page 69 |
Page 70 |
Page 71 |
Page 72 |
Page 73 |
Page 74 |
Page 75 |
Page 76 |
Page 77 |
Page 78 |
Page 79 |
Page 80 |
Page 81 |
Page 82 |
Page 83 |
Page 84