Ocular disorders known or presumed to be inherited (published) Iris and ciliary body cysts ; 2-6 y.o. ; possible relationship with glaucoma

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Golden Retriever Ocular disorders known or presumed to be inherited (published) Diagnosis Description and comments specific to the breed Inheritance Gene/ marker test References A Uveal cysts Iris and ciliary body cysts ; 2-6 y.o. ; possible relationship with glaucoma Unknown NO 1,2,3,5,6 B Pigmentary uveitis Both eyes are frequently affected ; 4,5-14,5 y.o.; pigmented radial striae on the anterior capsule of the lens ; associated uveal cysts ; fibrin in the anterior chamber, cataract and glaucoma in severe cases Unknown NO 2,4,6 C Cataract 1.Triangular subcapsular posterior cataract ; between 6 and 18 months of age ; usually slowly or 1.Autosomal recessive NO 1,2,7,8,9,10, 11,12,13,14

non progressive 2.Anterior cortical striate cataract ; usually 3-6 y.o. 3.Perinuclear posterior cataract ;rarely progressive 2.Unknown 3.Unknown D Retinal dysplasia -multifocal -geographic Unknown NO 1,2,15,16 Progressive Retinal Atrophy 1. Two different forms : Autosomal recessive 1. prcd 1,2,17,18,19,20,21,22 E 1. PRA-prcd 2. GR_PRA1 3. GR_PRA2 a) within 2 years of age b) 5-7 y.o. 2. SLC4A3 3. TTC8 F Retinal Pigment Epithelial Dystrophy (RPED) Unknown NO 1,2,18,19 G Limbal melanoma Usually 3-7 y.o. Unknown NO 2,25,26 H Microphthalmia Associated with other ocular anomalies (cataract, retinal dysplasia, neovascularizatio n of the retina, optic nerve hypoplasia) Unknown NO 1,2,27

The ECVO s advice relating to hereditary eye disease control Please see ECVO Manual chapter 8: VET Advice Recommendations regarding age and frequency for eye examinations Please see ECVO Manual chapter 7: ECVO Age and Frequency recommendations Other ocular disorders (reported) Diagnosis Source A Distichiasis ACVO genetics committee B Entropion ACVO genetics committee C Corneal dystrophy -epithelial/stromal ACVO genetics committee D Glaucoma ACVO genetics committee E Persistent pupillary membranes -iris to iris ACVO genetics committee F Atresia of lacrimal punctum French National Panel References 1. Rubin Lionel F., Inherited Eye Diseases in Purebred Dogs, Baltimore: Williams & Wilkins, 1989;150-159. 2. Chaudieu G. Chahory S. Affections oculaires héréditaires ou à prédisposition raciale chez le chien.2nd ed. Ed. du Point Vétérinaire, 2013;373-380. 3. Townsend WM, Rossman P. Prevalence of pigmentary uveitis and uveal cysts in golden retrievers residing within the midwestern United States. 42nd Annual Meeting of the American College of Veterinary Ophthalmologists 2011 October 26 29, 2011.

4. Sapienza JS, Simo FJ, Prades-Sapienza A. Golden Retriever uveitis: 75 cases (1994-1999). Vet Ophthalmol. 2000; 3: 241-246. 5. Deehr AJ, Dubielzig RR. A histopathological study of iridociliary cysts and glaucoma in Golden Retrievers. Vet Ophthalmol. 1998; 1: 153-158. 6. Holly V, Sandmeyer LS, Bauer BS, Verges L & Grahn BH. Golden Retriever cystic uveal disease: a longitudinal study of iridociliary cysts, pigmentary uveitis and pigmentary//cystic glaucoma over a decade in western Canada. Vet Ophthalmol 2015; published online 29 Jun 2015 7. Bona A. Eine populationgenetische Untersuchung zur Zuchtsituation und zu erblich determinierten Erkankun- insbesodere Augen- und Gelenkserkrankungenbein Golden und Labrador Retriever. (A population genetic study of the breeding situation and inherited diseases, particularly eye and joint diseases, in the Golden and Labrador retrievers.). Tierarztliche Hochschule Hannover: Hannover Germany. 1995. 8. Gelatt KN. Cataracts in the Golden Retriever dog. Vet Med Small Anim Clin. 1972; 67: 1113-1115. 9. Rubin LF. Cataract in Golden Retrievers. J Am Vet Med Assoc. 1974; 165: 457-458. 10. Barnett KC. Hereditary cataract in the dog. J Small Anim Pract. 1978; 19: 109-120. 11. Barnett KC. Cataract in the golden retriever. Vet Rec. 1980; 111: 315. 12. Barnett KC. The diagnosis and differential diagnosis of cataract in the dog. J Small Anim Pract. 1985; 26: 305. 13. Curtis R. Hereditary cataract in Golden and Labrador retrievers in the United Kingdom. Trans Am Coll Vet Opthalmol. 1986; 17: 23. 14. Aguirre G, Holle D, Yu-Speight A, Sarna C & Hall E. A re-examination of the mode of inheritance of posterior cortical cataracts in Labrador and Golden Retrievers. Trans Am Coll Vet Ophthalmol. 2004; 35 15. Long SE, Crispin SM. Inheritance of multifocal retinal dysplasia in the golden retriever in the UK. Vet Rec. 1999; 145: 702-704.

16. Holle DM, Stankovics ME, Sarna CS, et al. The geographic form of retinal dysplasia in dogs is not always a congenital abnormality. Vet Ophthalmol. 1999; 2: 61-66. 17. Gelatt KN. Description and diagnosis of progressive retinal atrophy. Norden News. 1974; 24. 18. Acland GM, Ray K, Mellersh CS, Gu W, Langston AA, Rine J, Ostrander EA, Aguirre GD. Linkage analysis and comparative mapping of canine progressive rod-cone degeneration (prcd) establishes potential locus homology with retinitis pigmentosa (RP17) in humans. Proceeding of the Natlional Academy of Sciences of the United States of America (1998): 95, 3048 3053. 19. Acland GM, Ray K, Mellersh CS, Landston AA, Rine J, Ostrander EA, Aguirre GD. A novel retinal degeneration locus identified by linkage and comparative mapping of canine early retinal degeneration. Genomics (1999) 59, 134 142. 20. Zangerl B, Goldstein O, Philp AR, Lindauer SJ, Pearce-Kelling SE, Mullins RF, Graphodatsky AS, Ripoll D, Felix JS, Stone EM, Acland GM, Aguirre GD. Identical mutation in a novel retinal gene causes progressive rod-cone degeneration in dogs and retinitis pigmentosa in humans.genomics (2006) 88(5):551-63. 21. Downs LM, Wallin-Hakansson B, Boursnell M, et al. A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations. PLoS One. 2011; 6: e21452. 22. Downs LM, Wallin-Håkansson B, Boursnell M,, Bergström T, Mellersh CS. A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genetics and Epidemiology (2014) 1,4:1-12. 23. Barnett KC. Canine retinopathies III. The other breeds. J Small Anim Pract. 1965; 6: 185. 24. Parry HB. Degenerations of the dog retina VI. CPRA with pigment epithelial dystrophy. Br J Ophthalmol. 1954; 38. 25. Donaldson D, Sansom J, Scase T, Adams V & Mellersh. Canine limbal melanoma:30 cases (1992-2004). Part 1. Signalment, clinical and histological features and pedigree analysis. Vet Ophthalmol. 2006; 9:115-119. 26. Donaldson D, Sansom J, Adams V. Canine limbal melanoma: 30 cases (1992-2004). Part 2. Treatment with lamellar resection and adjunctive strontium-90beta plesiotherapy- -efficacy and morbidity. Vet Ophthalmol. 2006; 9: 179-185.

27. Williams LW, Peiffer RL, Gelatt KN et al. Multiple ocular defects in a Golden Retriever puppy. Vet Med Small Anim Clin. 1977;72:1463-1465.