Pratique médicale et chirurgicale de l’animal de compagnie (2008) 43, 75—84 Disponible en ligne sur www.sciencedirect.com ORIGINAL ARTICLE Hereditary retinopathies in the dog: Genetic fundamentals and genetic tests Rétinopathies héréditaires chez le chien : les bases génétiques, les tests génétiques C. André a , G. Chaudieu b,* , A. Thomas c , O. Jongh d , J.-P. Jegou e , S. Chahory f , B. Clerc f , P. Pilorge g , O. Brenac h a CNRS UMR 6061, institut de génétique et développement, faculté de medicine, université de Rennes-1, 2, avenue du Pr-Léon-Bernard, 35043 Rennes, France b Clinique vétérinaire Beaulieu, 2, place Beaulieu, 63400 Chamalières, France c Antagene laboratoire de génétique animale, immeuble Le Meltem, 2, allée des Séquoias, 69760 Limonest, France d Clinique vétérinaire, 2, rue Jacques, 69259 Neuville-sur-Saône, France e Clinique d’ophtalmologie vétérinaire, 39, rue Rouelle, 75015 Paris, France f Unité d’ophtalmologie, École nationale vétérinaire, 7, avenue du Général-de-Gaulle, 94704 Maisons-Alfort cedex, France g Clinique vétérinaire Saint-Cyr, 70, rue Papu, 35000 Rennes, France h Clinique vétérinaire, 7, avenue du Médoc, 33320 Eysines, France Received 4 June 2008; accepted 10 June 2008 Available online 21 July 2008 KEYWORDS Dog; Gene mutations; Genetic tests; Retina; Retinitis pigmentosa; PRA Summary This paper aims to give an overview on the genetic aspects of PRA in canines through the following topics: (1) fundamentals in genetics; (2) advantages of studies in dogs for both humans and dogs; (3) how to search for genes and mutations involved in hereditary diseases; (4) update on the genes and mutations identified in hereditary retinal diseases; (5) genetic tests: definitions of a mutation genetic test and a linkage genetic test; quality of a genetic test: the methods used, the number of dogs and the populations analyzed within a breed; (6) update on available genetic tests; (7) the role of the veterinary ophthalmologist in fundamental genetic research: example of an X-linked PRA in the Border Collie; (8) the place of genetic tests in ophthalmology for the practitioner. © 2008 AFVAC. Published by Elsevier Masson SAS. All rights reserved. ∗ Corresponding author. E-mail address: c.v.b@infonie.fr (G. Chaudieu). 0758-1882/$ — see front matter © 2008 AFVAC. Published by Elsevier Masson SAS. All rights reserved. doi:10.1016/j.anicom.2008.06.002