Aguirre, G. K., Komáromy, A. M., Cideciyan, A. V., Brainard, D. H., Aleman, T. S., Roman, A. J., Avants, B. B., Gee, J. C., Korczykowski, M., Hauswirth, W. W., Acland, G. M., Aguirre, G. D., & Aguirre, G. K. (2007). Canine and Human Visual Cortex Intact and Responsive Despite Early Retinal Blindness from RPE65 Mutation. PLoS Medicine, 4(6). https://doi.org/10.1371/journal.pmed.0040230
Aguirre-Hernández, J., & Sargan, D. R. (2005). Evaluation of candidate genes in the absence of positional information: A poor bet on a blind dog! The Journal of Heredity, 96(5), 475–484. https://doi.org/10.1093/jhered/esi092
Assi, L., Chamseddine, F., Ibrahim, P., Sabbagh, H., Rosman, L., Congdon, N., Evans, J., Ramke, J., Kuper, H., Burton, M. J., Ehrlich, J. R., & Swenor, B. K. (2021). A Global Assessment of Eye Health and Quality of Life. JAMA Ophthalmology. https://doi.org/10.1001/jamaophthalmol.2021.0146
Barbehenn, E, Gagnon, C, Noelker, D, Aquirre, G, & Chader, G. (1988). Inherited rod-cone dysplasia: Abnormal distribution of cyclic GMP in visual cells of affected Irish setters. Experimental Eye Research, 46(2), 149–159. https://doi.org/10.1016/S0014-4835(88)80073-3
Bunel, M., Chaudieu, G., Hamel, C., Lagoutte, L., Manes, G., Botherel, N., Brabet, P., Pilorge, P., André, C., & Quignon, P. (2019). Natural models for retinitis pigmentosa: Progressive retinal atrophy in dog breeds. Human Genetics, 138(5), 441–453. https://doi.org/10.1007/s00439-019-01999-6
Comeglio, P., Evans, A. L., Brice, G., Cooling, R. J., & Child, A. H. (2002). Identification of FBN1 gene mutations in patients with ectopia lentis and marfanoid habitus. The British Journal of Ophthalmology, 86(12), 1359–1362.
Daiger, S. P., Bowne, S. J., & Sullivan, L. S. (2007). Perspective on Genes and Mutations Causing Retinitis Pigmentosa. Archives of Ophthalmology, 125(2), 151–158. https://doi.org/10.1001/archopht.125.2.151
Das, R. G., Marinho, F. P., Iwabe, S., Santana, E., McDaid, K. S., Aguirre, G. D., & Miyadera, K. (2017). Variabilities in retinal function and structure in a canine model of cone-rod dystrophy associated with RPGRIP1 support multigenic etiology. Scientific Reports, 7(1), 12823. https://doi.org/10.1038/s41598-017-13112-w
Dekomien, G., & Epplen, J. T. (2003). Analysis of PDE6D and PDE6G genes for generalised progressive retinal atrophy (gPRA) mutations in dogs. Genetics, Selection, Evolution: GSE, 35(4), 445–456. https://doi.org/10.1186/1297-9686-35-5-445
Donner, J., Anderson, H., Davison, S., Hughes, A. M., Bouirmane, J., Lindqvist, J., Lytle, K. M., Ganesan, B., Ottka, C., Ruotanen, P., Kaukonen, M., Forman, O. P., Fretwell, N., Cole, C. A., & Lohi, H. (2018). Frequency and distribution of 152 genetic disease variants in over 100,000 mixed breed and purebred dogs. PLoS Genetics, 14(4). https://doi.org/10.1371/journal.pgen.1007361
Donner, J., Kaukonen, M., Anderson, H., Möller, F., Kyöstilä, K., Sankari, S., Hytönen, M., Giger, U., & Lohi, H. (2016). Genetic Panel Screening of Nearly 100 Mutations Reveals New Insights into the Breed Distribution of Risk Variants for Canine Hereditary Disorders. PLOS ONE, 11(8), e0161005. https://doi.org/10.1371/journal.pone.0161005
Downs, L. M., Wallin-Håkansson, B., Bergström, T., & Mellersh, C. S. (2014). A novel mutation in TTC8 is associated with progressive retinal atrophy in the golden retriever. Canine Genetics and Epidemiology, 1. https://doi.org/10.1186/2052-6687-1-4
Dreger, D. L., Hooser, B. N., Hughes, A. M., Ganesan, B., Donner, J., Anderson, H., Holtvoigt, L., & Ekenstedt, K. J. (2019). True Colors: Commercially-acquired morphological genotypes reveal hidden allele variation among dog breeds, informing both trait ancestry and breed potential. PLOS ONE, 14(10), e0223995. https://doi.org/10.1371/journal.pone.0223995
Dvir, L., Srour, G., Abu-Ras, R., Miller, B., Shalev, S. A., & Ben-Yosef, T. (2010). Autosomal-Recessive Early-Onset Retinitis Pigmentosa Caused by a Mutation in PDE6G, the Gene Encoding the Gamma Subunit of Rod cGMP Phosphodiesterase. American Journal of Human Genetics, 87(2), 258–264. https://doi.org/10.1016/j.ajhg.2010.06.016
Farias, F. H. G., Johnson, G. S., Taylor, J. F., Giuliano, E., Katz, M. L., Sanders, D. N., Schnabel, R. D., McKay, S. D., Khan, S., Gharahkhani, P., O’Leary, C. A., Pettitt, L., Forman, O. P., Boursnell, M., McLaughlin, B., Ahonen, S., Lohi, H., Hernandez-Merino, E., Gould, D. J., … Mellersh, C. (2010). An ADAMTS17 Splice Donor Site Mutation in Dogs with Primary Lens Luxation. Investigative Ophthalmology & Visual Science, 51(9), 4716–4721. https://doi.org/10.1167/iovs.09-5142
Forman, O. P., Pettitt, L., Komáromy, A. M., Bedford, P., & Mellersh, C. (2015). A Novel Genome-Wide Association Study Approach Using Genotyping by Exome Sequencing Leads to the Identification of a Primary Open Angle Glaucoma Associated Inversion Disrupting ADAMTS17. PLoS ONE, 10(12). https://doi.org/10.1371/journal.pone.0143546
Gould, D., Pettitt, L., McLaughlin, B., Holmes, N., Forman, O., Thomas, A., Ahonen, S., Lohi, H., O’Leary, C., Sargan, D., & Mellersh, C. (2011). ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Veterinary Ophthalmology, 14(6), 378–384. https://doi.org/10.1111/j.1463-5224.2011.00892.x
Haim, M. (2002). The epidemiology of retinitis pigmentosa in Denmark. Acta Ophthalmologica Scandinavica, 80, 1–34. https://doi.org/10.1046/j.1395-3907.2002.00001.x
Jeanes, E. C., Oliver, J. A. C., Ricketts, S. L., Gould, D. J., & Mellersh, C. S. (2019). Glaucoma-causing ADAMTS17 mutations are also reproducibly associated with height in two domestic dog breeds: Selection for short stature may have contributed to increased prevalence of glaucoma. Canine Genetics and Epidemiology, 6, 5. https://doi.org/10.1186/s40575-019-0071-6
Kuchtey, J., Olson, L. M., Rinkoski, T., MacKay, E. O., Iverson, T. M., Gelatt, K. N., Haines, J. L., & Kuchtey, R. W. (2011). Mapping of the Disease Locus and Identification of ADAMTS10 As a Candidate Gene in a Canine Model of Primary Open Angle Glaucoma: E1001306. PLoS Genetics, 7(2). http://dx.doi.org.libproxy.helsinki.fi/10.1371/journal.pgen.1001306
Lenassi, E., Clayton-Smith, J., Douzgou, S., Ramsden, S. C., Ingram, S., Hall, G., Hardcastle, C. L., Fletcher, T. A., Taylor, R. L., Ellingford, J. M., Newman, W. D., Fenerty, C., Sharma, V., Lloyd, I. C., Biswas, S., Ashworth, J. L., Black, G. C., & Sergouniotis, P. I. (2020). Clinical utility of genetic testing in 201 preschool children with inherited eye disorders. Genetics in Medicine, 22(4), 745–751. https://doi.org/10.1038/s41436-019-0722-8
Lindblad-Toh, K., Wade, C. M., Mikkelsen, T. S., Karlsson, E. K., Jaffe, D. B., Kamal, M., Clamp, M., Chang, J. L., Kulbokas, E. J., Zody, M. C., Mauceli, E., Xie, X., Breen, M., Wayne, R. K., Ostrander, E. A., Ponting, C. P., Galibert, F., Smith, D. R., deJong, P. J., … Lander, E. S. (2005). Genome sequence, comparative analysis and haplotype structure of the domestic dog. Nature, 438(7069), 803–819. https://doi.org/10.1038/nature04338
Miyadera, K., Acland, G. M., & Aguirre, G. D. (2012). Genetic and phenotypic variations of inherited retinal diseases in dogs: The power of within- and across-breed studies. Mammalian Genome : Official Journal of the International Mammalian Genome Society, 23(0), 40–61. https://doi.org/10.1007/s00335-011-9361-3
Morales, J., Al-Sharif, L., Khalil, D. S., Shinwari, J. M. A., Bavi, P., Al-Mahrouqi, R. A., Al-Rajhi, A., Alkuraya, F. S., Meyer, B. F., & Al Tassan, N. (2009). Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. American Journal of Human Genetics, 85(5), 558–568. https://doi.org/10.1016/j.ajhg.2009.09.011
Overwater, E., Floor, K., van Beek, D., de Boer, K., van Dijk, T., Hilhorst-Hofstee, Y., Hoogeboom, A. J. M., van Kaam, K. J., van de Kamp, J. M., Kempers, M., Krapels, I. P. C., Kroes, H. Y., Loeys, B., Salemink, S., Stumpel, C. T. R. M., Verhoeven, V. J. M., Wijnands-van den Berg, E., Cobben, J. M., van Tintelen, J. P., … Maugeri, A. (2017). NGS panel analysis in 24 ectopia lentis patients; a clinically relevant test with a high diagnostic yield. European Journal of Medical Genetics, 60(9), 465–473. https://doi.org/10.1016/j.ejmg.2017.06.005
Parker, H. G., Dreger, D. L., Rimbault, M., Davis, B. W., Mullen, A. B., Carpintero-Ramirez, G., & Ostrander, E. A. (2017). Genomic analyses reveal the influence of geographic origin, migration and hybridization on modern dog breed development. Cell Reports, 19(4), 697–708. https://doi.org/10.1016/j.celrep.2017.03.079
Petersen–Jones, S. M., Entz, D. D., & Sargan, D. R. (1999). CGMP Phosphodiesterase-α Mutation Causes Progressive Retinal Atrophy in the Cardigan Welsh Corgi Dog. Investigative Ophthalmology & Visual Science, 40(8), 1637–1644.
Petersen-Jones, S. M., & Komáromy, A. M. (2014). Dog Models for Blinding Inherited Retinal Dystrophies. Human Gene Therapy Clinical Development, 26(1), 15–26. https://doi.org/10.1089/humc.2014.155
Shannon, L. M., Boyko, R. H., Castelhano, M., Corey, E., Hayward, J. J., McLean, C., White, M. E., Abi Said, M., Anita, B. A., Bondjengo, N. I., Calero, J., Galov, A., Hedimbi, M., Imam, B., Khalap, R., Lally, D., Masta, A., Oliveira, K. C., Pérez, L., … Boyko, A. R. (2015). Genetic structure in village dogs reveals a Central Asian domestication origin. Proceedings of the National Academy of Sciences of the United States of America, 112(44), 13639–13644. https://doi.org/10.1073/pnas.1516215112
Solebo, A. L., Teoh, L., & Rahi, J. (2017). Epidemiology of blindness in children. Archives of Disease in Childhood, 102(9), 853–857. https://doi.org/10.1136/archdischild-2016-310532
Suber, M. L., Pittler, S. J., Qin, N., Wright, G. C., Holcombe, V., Lee, R. H., Craft, C. M., Lolley, R. N., Baehr, W., & Hurwitz, R. L. (1993). Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proceedings of the National Academy of Sciences of the United States of America, 90(9), 3968–3972.
Wiggs, J. L. (2015). Glaucoma Genes and Mechanisms. Progress in Molecular Biology and Translational Science, 134, 315–342. https://doi.org/10.1016/bs.pmbts.2015.04.008