Pathological and electrophysiological features of a canine cone-rod dystrophy in the miniature longhaired dachshund

Investigative Ophthalmology and Visual Science

Volumn 48, Issue 9, 2007, Pages 4240-4249

  Turney, Clare ^a   Chong, N H Victor ^a,b   Alexander, Robert A ^a   Hogg, Chris R ^c   Fleming, Lorraine ^d   Flack, Deborah ^d   Barnett, Keith C ^d   Bird, Alan C ^c   Holder, Graham E ^c   Luthert, Philip J ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c MOORFIELDS EYE HOSPITAL   (United Kingdom)

^d ANIMAL HEALTH TRUST   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LECTIN; OPSIN; CYTOCHROME C OXIDASE; GLIAL FIBRILLARY ACIDIC PROTEIN; SYNAPTOPHYSIN;

AMPLITUDE MODULATION; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; B WAVE; CONTROLLED STUDY; DOG; ELECTROPHYSIOLOGY; ELECTRORETINOGRAPHY; HETEROZYGOSITY; HISTOCHEMISTRY; HISTOPATHOLOGY; HOMOZYGOSITY; IMMUNOHISTOCHEMISTRY; NONHUMAN; PHOTORECEPTOR; PRIORITY JOURNAL; PROTEIN LOCALIZATION; RETINA CONE; RETINA MACULA DEGENERATION; RETINA ROD; ANIMAL; ANIMAL DISEASE; CELL COUNT; CYTOCHEMISTRY; DOG DISEASE; ENZYME IMMUNOASSAY; FEMALE; GENETICS; MALE; METABOLISM; PATHOLOGY; PATHOPHYSIOLOGY; RECESSIVE GENE; RETINA; RETINA DEGENERATION;

ANIMALS; CELL COUNT; DOG DISEASES; DOGS; ELECTRON TRANSPORT COMPLEX IV; ELECTRORETINOGRAPHY; FEMALE; GENES, RECESSIVE; GLIAL FIBRILLARY ACIDIC PROTEIN; HISTOCYTOCHEMISTRY; IMMUNOENZYME TECHNIQUES; MALE; OPSIN; PHOTORECEPTORS, VERTEBRATE; RETINA; RETINAL DEGENERATION; SYNAPTOPHYSIN;

EID: 35148846828     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: 10.1167/iovs.04-0737     Document Type: Article

References (33)

1. Conte I, Lestingi M, den Hollander A, et al. Identification and characterisation of the retinitis pigmentosa 1-like1 gene (RP1L1): a novel candidate for retinal degenerations. Eur J Hum Genet. 2003; 11:155-162.
2. Curtis R, Barnett KC. Progressive retinal atrophy in miniature longhaired dachshund dogs. Br Vet J. 1993;149:71-85.
3. Suber ML, Pittler SJ, Qin N, et al. Irish setter dogs affected with rod/cone dysplasia contain a nonsense mutation in the rod cGMP phosphodiesterase beta-subunit gene. Proc Natl Acad Sci USA. 1993;90:3968-3972.
4. Ray K, Baldwin VJ, Acland GM, Blanton SH, Aguirre GD. Cosegregation of codon 807 mutation of the canine rod cGMP phosphodiesterase beta gene and rcd1. Invest Ophthalmol Vis Sci. 1994;35:4291-4299.
5. Aguirre G, Alligood J, O'Brien P, Buyukmihci N. Pathogenesis of progressive rod-cone degeneration in miniature poodles. Invest Ophthalmol Vis Sci. 1982;23:610-630.
6. Aguirre GD, Acland GM. Variation in retinal degeneration phenotype inherited at the prcd locus. Exp Eye Res. 1988;46:663-687.
7. Aguirre GD. Candidate gene studies in canine progressive retinal atrophy. Digital J Ophthalmol. 1998;4.
8. Marmor MF, Zrenner E. Standard for clinical electroretinography (1994 update). Doc Ophthalmol. 1995;89:199-210.
9. Marmor MF, Holder GE, Seeliger MW, Yamamoto S. Standard for clinical electroretinography (2004 update). Doc Ophthalmol. 2004;108:107-114.
10. R Development Core Team. R: A Language and Environment for Statistical Computing. Vienna, Austria: University of Vienna; 2004
11. Pinjeiro JC, Bates DM. Mixed-Effects Models in S and S-PLUS. New York: Springer-Verlag, Inc.; 2000.
12. Petersen-Jones SM. A review of research to elucidate the causes of the generalized progressive retinal atrophies. Vet J. 1998;155:5-18.
13. Lin CT, Gould DJ, Petersen-Jonest SM, Sargan DR. Canine inherited retinal degenerations: update on molecular genetic research and its clinical application. J Small Anim Pract. 2002;43:426-432.
14. Magnusson H. Über Retinitis Pigmentosa und Kosanguinität beim Hunde. Arch Vergh Ophthal. 1911;2:147-163.
15. Magnusson H. Noch ein Fall von Nachtblindheit beim Hunde. Graefes Arch Clin Exp Ophthalmol. 1917;93:404-411.
16. Barnett KC. Hereditary retinal atrophy in the poodle. Vet Rec. 1962;74:672-675.
17. Narfstrom K, Wrigstad A. Clinical, electrophysiological and morphological changes in a case of hereditary retinal degeneration in the Papillon dog. Vet Ophthalmol. 1999;2:67-74.
18. Chong NH, Alexander RA, Barnett KC, Bird AC, Luthert PJ. An immunohistochemical study of an autosomal dominant feline rod/cone dysplasia (Rdy cats). Exp Eye Res. 1999;68:51-57.
19. Barnett KC. A Colour Atlas of Retinal Ophthalmology. London: Wolfe Publishing Ltd; 1990.
20. Vainisi SJ, Fishman GA, Wolf ED, Boese GK. Cone-rod dystrophy in the Guinea baboon. Trans Am Acad Ophthalmol Otolaryngol. 1976; 81:OP725-OP730.
21. Kijas JW, Zangerl B, Miller B, et al. Cloning of the canine ABCA4 gene and evaluation in canine cone-rod dystrophies and progressive retinal atrophies. Mol Vis. 2004;10:223-232.
22. Gum GG, Gelatt KN, Samuelson DA. Maturation of the retia of the canine neonate as determined by electroretinography and histology. Am J Vet Res. 1984;45:1166-1171.
23. Acland GM, Aguirre GD. Retinal degenerations in the dog: IV. Early retinal degeneration (erd) in Norwegian elkhounds. Exp Eye Res. 1987;44:491-521.
24. Kemp CM, Jacobson SG. Rhodopsin levels in the central retinas of normal miniature poodles and those with progressive rod-cone degeneration. Exp Eye Res. 1992;54:947-956.
25. Nir I, Papermaster DS. Immunocytochemical localization of opsin in the inner segment and ciliary plasma membrane of photoreceptors in retinas of rds mutant mice. Invest Ophthalmol Vis Sci. 1986;27:836-840.
26. Nir I, Sagie G, Papermaster DS. Opsin accumulation in photoreceptor inner segment plasma membranes of dystrophic RCS rats. Invest Ophthalmol Vis Sci. 1987;28:62-69.
27. Nir I, Agarwal N, Sagie G, Papermaster DS. Opsin distribution and synthesis in degenerating photoreceptors of rd mutant mice. Exp Eye Res. 1989;49:403-421.
28. Blackmon SM, Peng YW, Hao Y, et al. Early loss of synaptic protein PSD-95 from rod terminals of rhodopsin P347L transgenic porcine retina. Brain Res. 2000;885:53-61.
29. Roof DJ, Adamian M, Hayes A. Rhodopsin accumulation at abnormal sites in retinas of mice with a human P23H rhodopsin transgene. Invest Ophthalmol Vis Sci. 1994;35:4049-4062.
30. Li ZY, Kljavin IJ, Milam AH. Rod photoreceptor neurite sprouting in retinitis pigmentosa. J Neurosci. 1995;15:5429-5438.
31. de Raad S, Szczesny PJ, Munz K, Reme CE. Light damage in the rat retina: glial fibrillary acidic protein accumulates in Muller cells in correlation with photoreceptor damage. Ophthalmic Res. 1996;28:99-107.
32. Fariss RN, Li ZY, Milam AH. Abnormalities in rod photoreceptors, amacrine cells, and horizontal cells in human retinas with retinitis pigmentosa. Am J Ophthalmol. 2000;129:215-223.
33. Clarke G, Collins RA, Leavitt BR, et al. A one-hit model of cell death in inherited neuronal degenerations. Nature. 2000;406:195-199.