OMIA:001872-9796 : Recurrent uveitis in Equus caballus (horse)

Categories: Vision / eye phene

Mendelian trait/disorder: unknown

Considered a defect: yes

Species-specific name: Also known as Ophthalmia.

Inheritance: The MHC associations reported by Deeg et al. (2004) and Kaese et al. (2005) implied a non-zero heritability for this disease.

Mapping: In a GWAS on 79 affected and 65 control German warmblood horses, each genotyped with the Illumina equine SNP50 bead chip (yielding 37,040 informative SNPs), Kulbrock et al. (2013) revealed a large-effect QTL at 49.3Mb on chromosome ECA20, very near to two interleukin genes, namely IL-17A and IL-17F, and provided some support for the previously published MHC associations (the MHC being also on ECA20, at around 32Mb). Hack et al. (2022) "investigate potential genetic risk factors for ERU in the Icelandic horse. Fifty-six Icelandic horses (11 affected with ERU and 45 controls) ... were included in the study. A case-control GWAS was performed using the GGP Equine 80K array on the Illumina Infinium HD Beadchip using 40 horses. A mixed linear model analysis identified a single SNP on ECA 11 (BIEC2_141650; NC_009154.3:g.3817009A>G) that reached genome-wide significance (p = 1.79 × 10-7 ). This variant was within an intron of tissue inhibitor of metalloproteinase 2 (TIMP2), a gene previously implicated in ERU. Sanger sequencing identified a single coding variant in this gene; however it was a synonymous mutation (NC_009154.3:g.3858193C>T) and was not perfectly concordant with ERU phenotype (p = 0.68). Further investigation of TIMP2 is warranted."

Breeds: Appaloosa (Horse) (VBO_0000904), Iceland Pony (Horse) (VBO_0000990), Knabstrupper (Horse) (VBO_0001008), Warmblood breeds.
Breeds in which the phene has been documented. (If a likely causal variant has been documented for the phene, see the variant table breeds in which the variant has been reported).

Cite this entry

Nicholas, F. W., Tammen, I., & Sydney Informatics Hub. (2022). OMIA:001872-9796: Online Mendelian Inheritance in Animals (OMIA) [dataset].


Note: the references are listed in reverse chronological order (from the most recent year to the earliest year), and alphabetically by first author within a year.

2023 Kingsley, N.B., Sandmeyer, L., Bellone, R.R. :
A review of investigated risk factors for developing equine recurrent uveitis. Vet Ophthalmol 26:86-100, 2023. Pubmed reference: 35691017. DOI: 10.1111/vop.13002.
Stonex, T.M., Watanabe, T.T.N., Robertson, J.B., Westermeyer, H.D. :
Equine pectinate ligament descemetization is associated with age. Vet Ophthalmol , 2023. Pubmed reference: 36802129. DOI: 10.1111/vop.13071.
2022 Gilger, B.C. :
How study of naturally occurring ocular disease in animals improves ocular health globally. J Am Vet Med Assoc 260:1887-1893, 2022. Pubmed reference: 36198052. DOI: 10.2460/javma.22.08.0383.
Hack, Y., Henriksen, M.L., Pihl, T.H., Nielsen, R.K., Dwyer, A.E., Bellone, R.R. :
A genetic investigation of equine recurrent uveitis in the Icelandic horse breed. Anim Genet 53:436-440, 2022. Pubmed reference: 35451153. DOI: 10.1111/age.13200.
Kingsley, N.B., Sandmeyer, L., Parker, S.E., Dwyer, A., Heden, S., Reilly, C., Hallendar-Edman, A., Archer, S., Bellone, R.R. :
Risk factors for insidious uveitis in the Knabstrupper breed. Equine Vet J , 2022. Pubmed reference: 36199161. DOI: 10.1111/evj.13879.
Kingsley, N.B., Sandmeyer, L., Norton, E.M., Speed, D., Dwyer, A., Lassaline, M., McCue, M., Bellone, R.R. :
Heritability of insidious uveitis in Appaloosa horses. Anim Genet 53:872-877, 2022. Pubmed reference: 36210489. DOI: 10.1111/age.13267.
2020 Rockwell, H., Mack, M., Famula, T., Sandmeyer, L., Bauer, B., Dwyer, A., Lassaline, M., Beeson, S., Archer, S., McCue, M., Bellone, R.R. :
Genetic investigation of equine recurrent uveitis in Appaloosa horses. Anim Genet 51:111-116, 2020. Pubmed reference: 31793009. DOI: 10.1111/age.12883.
Sandmeyer, L.S., Kingsley, N.B., Walder, C., Archer, S., Leis, M.L., Bellone, R.R., Bauer, B.S. :
Risk factors for equine recurrent uveitis in a population of Appaloosa horses in western Canada. Vet Ophthalmol 23:515-525, 2020. Pubmed reference: 32086865. DOI: 10.1111/vop.12749.
2017 Bellone, R.R. :
Genetic testing as a tool to identify horses with or at risk for ocular disorders. Vet Clin North Am Equine Pract 33:627-645, 2017. Pubmed reference: 29103563. DOI: 10.1016/j.cveq.2017.08.005.
2016 Gerding, J.C., Gilger, B.C. :
Prognosis and impact of equine recurrent uveitis. Equine Vet J 48:290-8, 2016. Pubmed reference: 25891653. DOI: 10.1111/evj.12451.
2014 Fritz, K.L., Kaese, H.J., Valberg, S.J., Hendrickson, J.A., Rendahl, A.K., Bellone, R.R., Dynes, K.M., Wagner, M.L., Lucio, M.A., Cuomo, F.M., Brinkmeyer-Langford, C.L., Skow, L.C., Mickelson, J.R., Rutherford, M.S., McCue, M.E. :
Genetic risk factors for insidious equine recurrent uveitis in Appaloosa horses. Anim Genet 45:392-9, 2014. Pubmed reference: 24467435. DOI: 10.1111/age.12129.
2013 Kulbrock, M., Lehner, S., Metzger, J., Ohnesorge, B., Distl, O. :
A genome-wide association study identifies risk loci to equine recurrent uveitis in German warmblood horses. PLoS One 8:e71619, 2013. Pubmed reference: 23977091. DOI: 10.1371/journal.pone.0071619.
2012 Swadzba, M.E., Hauck, S.M., Naim, H.Y., Amann, B., Deeg, C.A. :
Retinal glycoprotein enrichment by concanavalin a enabled identification of novel membrane autoantigen synaptotagmin-1 in equine recurrent uveitis. PLoS One 7:e50929, 2012. Pubmed reference: 23236410. DOI: 10.1371/journal.pone.0050929.
2011 Curling, A. :
Equine recurrent uveitis: classification, etiology, and pathogenesis. Compend Contin Educ Vet 33:E2, 2011. Pubmed reference: 21870351.
Curling, A. :
Equine recurrent uveitis: treatment. Compend Contin Educ Vet 33:E1, 2011. Pubmed reference: 21870352.
2010 Gilger, B.C. :
Equine recurrent uveitis: the viewpoint from the USA. Equine Vet J Suppl :57-61, 2010. Pubmed reference: 20939168.
Spiess, B.M. :
Equine recurrent uveitis: the European viewpoint. Equine Vet J Suppl :50-6, 2010. Pubmed reference: 20939167.
2009 Deeg, C.A. :
A proteomic approach for studying the pathogenesis of spontaneous equine recurrent uveitis (ERU). Vet Immunol Immunopathol 128:132-6, 2009. Pubmed reference: 19026452. DOI: 10.1016/j.vetimm.2008.10.302.
2008 Deeg, C.A. :
Ocular immunology in equine recurrent uveitis. Vet Ophthalmol 11 Suppl 1:61-5, 2008. Pubmed reference: 19046272. DOI: 10.1111/j.1463-5224.2008.00625.x.
Deeg, C.A., Hauck, S.M., Amann, B., Pompetzki, D., Altmann, F., Raith, A., Schmalzl, T., Stangassinger, M., Ueffing, M. :
Equine recurrent uveitis--a spontaneous horse model of uveitis. Ophthalmic Res 40:151-3, 2008. Pubmed reference: 18421230. DOI: 10.1159/000119867.
Gilger, B.C., Salmon, J.H., Yi, N.Y., Barden, C.A., Chandler, H.L., Wendt, J.A., Colitz, C.M. :
Role of bacteria in the pathogenesis of recurrent uveitis in horses from the southeastern United States. Am J Vet Res 69:1329-35, 2008. Pubmed reference: 18828691. DOI: 10.2460/ajvr.69.10.1329.
2005 Kaese, H., Flickinger, G., Valberg, S.J., Mickelson, J.R. et al :
ELA microsatellite association with uveitis in the Appaloosa horse Vet Ophthalmol 8:437-450 (abstract 36), 2005.
2004 Deeg, C.A., Marti, E., Gaillard, C., Kaspers, B. :
Equine recurrent uveitis is strongly associated with the MHC class I haplotype ELA-A9. Equine Vet J 36:73-5, 2004. Pubmed reference: 14756375.
Gilger, B.C., Michau, T.M. :
Equine recurrent uveitis: new methods of management. Vet Clin North Am Equine Pract 20:417-27, vii, 2004. Pubmed reference: 15271431. DOI: 10.1016/j.cveq.2004.04.010.
Paglia, D.T., Miller, P.E., Dubielzig, R.R. :
James Wardrop and equine recurrent uveitis. Arch Ophthalmol 122:1218-23, 2004. Pubmed reference: 15302665. DOI: 10.1001/archopht.122.8.1218.
van der Velden, M.A. :
[Moon blindness (Equine Recurrent Uveitis) in the horse]. Tijdschr Diergeneeskd 129:153-7, 2004. Pubmed reference: 15032037.
2002 Deeg, C.A., Ehrenhofer, M., Thurau, S.R., Reese, S., Wildner, G., Kaspers, B. :
Immunopathology of recurrent uveitis in spontaneously diseased horses. Exp Eye Res 75:127-33, 2002. Pubmed reference: 12137758.
Dixon, P., Coppack, R. :
Equine recurrent uveitis. Vet Rec 150:556, 2002. Pubmed reference: 12019547.
1997 Spiess, B.M. :
[Equine recurrent uveitis]. Schweiz Arch Tierheilkd 139:126-33, 1997. Pubmed reference: 9324749.
1987 Barnett, K.C. :
Equine periodic ophthalmia: a continuing aetiological riddle. Equine Vet J 19:90-1, 1987. Pubmed reference: 3494600.
1985 Halliwell, R.E., Hines, M.T. :
Studies on equine recurrent uveitis. I: Levels of immunoglobulin and albumin in the aqueous humor of horses with and without intraocular disease. Curr Eye Res 4:1023-31, 1985. Pubmed reference: 4064727.
Halliwell, R.E., Brim, T.A., Hines, M.T., Wolf, D., White, F.H. :
Studies on equine recurrent uveitis. II: The role of infection with Leptospira interrogans serovar pomona. Curr Eye Res 4:1033-40, 1985. Pubmed reference: 3877614.
1975 Witzmann, P. :
[Therapy of periodic ophthalmia (moon blindness) in the horse]. Dtsch Tierarztl Wochenschr 82:1-4, 1975. Pubmed reference: 1089524.
1966 Cross, R.S. :
Equine periodic ophthalmia. Vet Rec 78:8-13, 1966. Pubmed reference: 5295030.
1964 Choyce, D.P. :
Ocular onchocerciasis in Central America, Africa and British Isles: (with a note on equine periodic ophthalmia). Trans R Soc Trop Med Hyg 58:11-47, 1964. Pubmed reference: 14117553.
1963 Roberts, S.R. :
Etiology of equine periodic ophthalmia. Am J Ophthalmol 55:1049-55, 1963. Pubmed reference: 13974327.
1962 Roberts, S.R. :
Fundus lesions in equine periodic ophthalmia. J Am Vet Med Assoc 141:229-39, 1962. Pubmed reference: 14492794.
1954 Witmer, R. :
Periodic ophthalmia in horses. Am J Ophthalmol 37:243-53, 1954. Pubmed reference: 13124447.
1947 Kelser, R.A. :
Equine periodic ophthalmia. Merck Rep 56:27-30, 1947. Pubmed reference: 20280010.
Roby, T.O., Jones, T.C. :
The blood in equine periodic ophthalmia. Am J Vet Res 8:145-52, 1947. Pubmed reference: 20295879.
1942 Jones, T.C., Maurer, F.D. :
Heredity in periodic ophthalmia Journal of the American Veterinary Medical Association 101:248-, 1942.

Edit History

  • Created by Frank Nicholas on 27 Aug 2013
  • Changed by Frank Nicholas on 27 Aug 2013
  • Changed by Carrie Finno on 11 Dec 2013
  • Changed by Imke Tammen2 on 28 Aug 2021
  • Changed by Imke Tammen2 on 27 Oct 2022
  • Changed by Imke Tammen2 on 16 Nov 2022
  • Changed by Imke Tammen2 on 25 Nov 2022