Michaelides M, Hunt DM, Moore AT: The cone dysfunction syndromes. Br J Ophthalmol. 2004, 88: 291-297. 10.1136/bjo.2003.027102.
Article
PubMed Central
CAS
PubMed
Google Scholar
Thiadens AA, den Hollander AI, Roosing S, Nabuurs SB, Zekveld-Vroon RC, Collin RW, De Baere E, Koenekoop RK, van Schooneveld MJ, Strom TM: Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet. 2009, 85: 240-247. 10.1016/j.ajhg.2009.06.016.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kohl S, Coppieters F, Meire F, Schaich S, Roosing S, Brennenstuhl C, Bolz S, van Genderen MM, Riemslag FC, European Retinal Disease Consortium: A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet. 2012, 91: 527-532. 10.1016/j.ajhg.2012.07.006.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kohl S, Baumann B, Rosenberg T, Kellner U, Lorenz B, Vadala M, Jacobson SG, Wissinger B: Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet. 2002, 71: 422-425. 10.1086/341835.
Article
PubMed Central
CAS
PubMed
Google Scholar
Aligianis IA, Forshew T, Johnson S, Michaelides M, Johnson CA, Trembath RC, Hunt DM, Moore AT, Maher ER: Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet. 2002, 39: 656-660. 10.1136/jmg.39.9.656.
Article
PubMed Central
CAS
PubMed
Google Scholar
Kohl S, Marx T, Giddings I, Jagle H, Jacobson SG, Apfelstedt-Sylla E, Zrenner E, Sharpe LT, Wissinger B: Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. Nat Genet. 1998, 19: 257-259. 10.1038/935.
Article
CAS
PubMed
Google Scholar
Sundin OH, Yang JM, Li Y, Zhu D, Hurd JN, Mitchell TN, Silva ED, Maumenee IH: Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet. 2000, 25: 289-293. 10.1038/77162.
Article
CAS
PubMed
Google Scholar
Kohl S, Baumann B, Broghammer M, Jagle H, Sieving P, Kellner U, Spegal R, Anastasi M, Zrenner E, Sharpe LT: Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21. Hum Mol Genet. 2000, 9: 2107-2116. 10.1093/hmg/9.14.2107.
Article
CAS
PubMed
Google Scholar
Kohl S, Varsanyi B, Antunes GA, Baumann B, Hoyng CB, Jagle H, Rosenberg T, Kellner U, Lorenz B, Salati R: CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet. 2005, 13: 302-308. 10.1038/sj.ejhg.5201269.
Article
CAS
PubMed
Google Scholar
Varsanyi B, Wissinger B, Kohl S, Koeppen K, Farkas A: Clinical and genetic features of Hungarian achromatopsia patients. Mol Vis. 2005, 11: 996-1001.
CAS
PubMed
Google Scholar
Wiszniewski W, Lewis RA, Lupski JR: Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14. Hum Genet. 2007, 121: 433-439. 10.1007/s00439-006-0314-y.
Article
CAS
PubMed
Google Scholar
Thiadens AA, Slingerland NW, Roosing S, van Schooneveld MJ, van Lith-Verhoeven JJ, van Moll-Ramirez N, van den Born LI, Hoyng CB, Cremers FP, Klaver CC: Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology. 2009, 116: 1984-1989. 10.1016/j.ophtha.2009.03.053.
Article
PubMed
Google Scholar
Sidjanin DJ, Lowe JK, McElwee JL, Milne BS, Phippen TM, Sargan DR, Aguirre GD, Acland GM, Ostrander EA: Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3. Hum Mol Genet. 2002, 11: 1823-1833. 10.1093/hmg/11.16.1823.
Article
CAS
PubMed
Google Scholar
Komaromy AM, Alexander JJ, Rowlan JS, Garcia MM, Chiodo VA, Kaya A, Tanaka JC, Acland GM, Hauswirth WW, Aguirre GD: Gene therapy rescues cone function in congenital achromatopsia. Hum Mol Genet. 2010, 19: 2581-2593. 10.1093/hmg/ddq136.
Article
PubMed Central
CAS
PubMed
Google Scholar
Aguirre GD, Rubin LF: The electroretinogram in dogs with inherited cone degeneration. Invest Ophthalmol. 1975, 14: 840-847.
CAS
PubMed
Google Scholar
Aguirre GD, Rubin LF: Pathology of hemeralopia in the Alaskan malamute dog. Invest Ophthalmol. 1974, 13: 231-235.
CAS
PubMed
Google Scholar
Rubin LF: Hemeralopia in Alaskan Malamute pups. J Am Vet Med Assoc. 1971, 158: 1699-1701.
CAS
PubMed
Google Scholar
Rubin LF: Clinical features of hemeralopia in the adult Alaskan malamute. J Am Vet Med Assoc. 1971, 158: 1696-1698.
CAS
PubMed
Google Scholar
Long KO, Aguirre GD: The cone matrix sheath in the normal and diseased retina: cytochemical and biochemical studies of peanut agglutinin-binding proteins in cone and rod-cone degeneration. Exp Eye Res. 1991, 52: 699-713. 10.1016/0014-4835(91)90022-7.
Article
CAS
PubMed
Google Scholar
Parker HG, Kim LV, Sutter NB, Carlson S, Lorentzen TD, Malek TB, Johnson GS, DeFrance HB, Ostrander EA, Kruglyak L: Genetic structure of the purebred domestic dog. Science. 2004, 304: 1160-1164. 10.1126/science.1097406.
Article
CAS
PubMed
Google Scholar
Vonholdt BM, Pollinger JP, Lohmueller KE, Han E, Parker HG, Quignon P, Degenhardt JD, Boyko AR, Earl DA, Auton A: Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication. Nature. 2010, 464: 898-902. 10.1038/nature08837.
Article
PubMed Central
CAS
PubMed
Google Scholar
Grozdanic SD, Matic M, Sakaguchi DS, Kardon RH: Evaluation of retinal status using chromatic pupil light reflex activity in healthy and diseased canine eyes. Invest Ophthalmol Vis Sci. 2007, 48: 5178-5183. 10.1167/iovs.07-0249.
Article
PubMed
Google Scholar
Jacobs GH, Deegan JF, Crognale MA, Fenwick JA: Photopigments of dogs and foxes and their implications for canid vision. Vis Neurosci. 1993, 10: 173-180. 10.1017/S0952523800003291.
Article
CAS
PubMed
Google Scholar
Neitz J, Geist T, Jacobs GH: Color vision in the dog. Vis Neurosci. 1989, 3: 119-125. 10.1017/S0952523800004430.
Article
CAS
PubMed
Google Scholar
Nalefski EA, Falke JJ: The C2 domain calcium-binding motif: structural and functional diversity. Protein Sci. 1996, 5: 2375-2390. 10.1002/pro.5560051201.
Article
PubMed Central
CAS
PubMed
Google Scholar
Rizo J, Sudhof TC: C2-domains, structure and function of a universal Ca2 + −binding domain. J Biol Chem. 1998, 273: 15879-15882. 10.1074/jbc.273.26.15879.
Article
CAS
PubMed
Google Scholar
Seddon JM, Hampson EC, Smith RI, Hughes IP: Genetic heterogeneity of day blindness in Alaskan Malamutes. Anim Genet. 2006, 37: 407-410. 10.1111/j.1365-2052.2006.01484.x.
Article
CAS
PubMed
Google Scholar
Goldstein O, Zangerl B, Pearce-Kelling S, Sidjanin DJ, Kijas JW, Felix J, Acland GM, Aguirre GD: Linkage disequilibrium mapping in domestic dog breeds narrows the progressive rod-cone degeneration interval and identifies ancestral disease-transmitting chromosome. Genomics. 2006, 88: 541-550. 10.1016/j.ygeno.2006.05.013.
Article
PubMed Central
CAS
PubMed
Google Scholar
van de Sluis B, Peter AT, Wijmenga C: Indirect molecular diagnosis of copper toxicosis in Bedlington terriers is complicated by haplotype diversity. J Hered. 2003, 94: 256-259. 10.1093/jhered/esg030.
Article
CAS
PubMed
Google Scholar
Clark LA, Wahl JM, Steiner JM, Zhou W, Ji W, Famula TR, Williams DA, Murphy KE: Linkage analysis and gene expression profile of pancreatic acinar atrophy in the German Shepherd Dog. Mamm Genome. 2005, 16: 955-962. 10.1007/s00335-005-0076-1.
Article
CAS
PubMed
Google Scholar
Farias FH, Johnson GS, Taylor JF, Giuliano E, Katz ML, Sanders DN, Schnabel RD, McKay SD, Khan S, Gharahkhani P: An ADAMTS17 splice donor site mutation in dogs with primary lens luxation. Invest Ophthalmol Vis Sci. 2010, 51: 4716-4721. 10.1167/iovs.09-5142.
Article
PubMed
Google Scholar
Gould D, Pettitt L, McLaughlin B, Holmes N, Forman O, Thomas A, Ahonen S, Lohi H, O'Leary C, Sargan D: ADAMTS17 mutation associated with primary lens luxation is widespread among breeds. Vet Ophthalmol. 2011, 14: 378-384. 10.1111/j.1463-5224.2011.00892.x.
Article
CAS
PubMed
Google Scholar
Huson HJ, Parker HG, Runstadler J, Ostrander EA: A genetic dissection of breed composition and performance enhancement in the Alaskan sled dog. BMC Genet. 2010, 11: 71-
Article
PubMed Central
PubMed
Google Scholar
Parker HG, Kukekova AV, Akey DT, Goldstein O, Kirkness EF, Baysac KC, Mosher DS, Aguirre GD, Acland GM, Ostrander EA: Breed relationships facilitate fine-mapping studies: a 7.8-kb deletion cosegregates with Collie eye anomaly across multiple dog breeds. Genome Res. 2007, 17: 1562-1571. 10.1101/gr.6772807.
Article
PubMed Central
CAS
PubMed
Google Scholar
Neff MW, Robertson KR, Wong AK, Safra N, Broman KW, Slatkin M, Mealey KL, Pedersen NC: Breed distribution and history of canine mdr1-1Delta, a pharmacogenetic mutation that marks the emergence of breeds from the collie lineage. Proc Natl Acad Sci U S A. 2004, 101: 11725-11730. 10.1073/pnas.0402374101.
Article
PubMed Central
CAS
PubMed
Google Scholar
American College of Veterinary Ophthalmologists Genetics Committee: Ocular Disorders Presumed to be Inherited in Purebred Dogs. 2010, Meridian, ID: American College of Veterinary Ophthalmologists, 5
Google Scholar
Stanley RG, Acland GM, Vingrys A, Hardman C, Turner A, Smith REI, Hughes I: Day blindness in Alaskan malamutes in Australia: Clinical and electroretinographic findings. Proceedings of the 29th Annual Meeting of the American College of Veterinary Ophthalmologists: 21–24 October 1998; Seattle, WA. 1998, 22-
Google Scholar
Ding XQ, Harry CS, Umino Y, Matveev AV, Fliesler SJ, Barlow RB: Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism. Hum Mol Genet. 2009, 18: 4770-4780. 10.1093/hmg/ddp440.
Article
PubMed Central
CAS
PubMed
Google Scholar
Shamir MH, Ofri R, Bor A, Brenner O, Reicher S, Obolensky A, Averbukh E, Banin E, Gootwine E: A novel day blindness in sheep: epidemiological, behavioural, electrophysiological and histopathological studies. Vet J. 2010, 185: 130-137. 10.1016/j.tvjl.2009.05.029.
Article
PubMed
Google Scholar
Reicher S, Seroussi E, Gootwine E: A mutation in gene CNGA3 is associated with day blindness in sheep. Genomics. 2010, 95: 101-104. 10.1016/j.ygeno.2009.10.003.
Article
CAS
PubMed
Google Scholar
Pang JJ, Deng WT, Dai X, Lei B, Everhart D, Umino Y, Li J, Zhang K, Mao S, Boye SL: AAV-mediated cone rescue in a naturally occurring mouse model of CNGA3-achromatopsia. PLoS One. 2012, 7: e35250-10.1371/journal.pone.0035250.
Article
PubMed Central
CAS
PubMed
Google Scholar
Chang B, Grau T, Dangel S, Hurd R, Jurklies B, Sener EC, Andreasson S, Dollfus H, Baumann B, Bolz S: A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A. 2009, 106: 19581-19586. 10.1073/pnas.0907720106.
Article
PubMed Central
CAS
PubMed
Google Scholar
Chang B, Dacey MS, Hawes NL, Hitchcock PF, Milam AH, Atmaca-Sonmez P, Nusinowitz S, Heckenlively JR: Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2. Invest Ophthalmol Vis Sci. 2006, 47: 5017-5021. 10.1167/iovs.05-1468.
Article
PubMed
Google Scholar
Alexander JJ, Umino Y, Everhart D, Chang B, Min SH, Li Q, Timmers AM, Hawes NL, Pang JJ, Barlow RB: Restoration of cone vision in a mouse model of achromatopsia. Nat Med. 2007, 13: 685-687. 10.1038/nm1596.
Article
PubMed Central
CAS
PubMed
Google Scholar
Garcia MM, Ying GS, Cocores CA, Tanaka JC, Komaromy AM: Evaluation of a behavioral method for objective vision testing and identification of achromatopsia in dogs. Am J Vet Res. 2010, 71: 97-102. 10.2460/ajvr.71.1.97.
Article
PubMed Central
PubMed
Google Scholar