Degenerations of the Dog Retina : II. Generalized Progressive Atrophy of Hereditary Origin

Parry, H. B.

doi:10.1136/bjo.37.8.487

Cited by 83 publications

(39 citation statements)

References 13 publications

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“…In typical PRA condition, functions of rod photoreceptor cells are lost before cone photoreceptor cells 3 , eventually leading to complete blindness. The initial clinical signs include nyctalopia followed by hemerlopia with tapetal hyper-reflectivity, pigmented changes, retinal vascular attenuation and atrophy of the optic nerve 4 .…”

mentioning

confidence: 99%

Identification of Genetic Variants in PDC, RHO, PDE6A and PDE6B in Dogs with Progressive Retinal Atrophy

Pandya¹,

Kelawala²,

Patel³

et al. 2016

Current Science

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The progressive retinal atrophy (PRA) is an inherited eye disease and characterized by progressive retinal degeneration which leads to impaired vision in dogs. Using targeted next generation sequencing of nine PRA cases and six controls, we have identified SNPs in PDC, PDE6A and PDE6B, which were not previously associated with PRA. The gene in which the highest mutations found was PDE6A (113 and 104 SNPs), followed by PDE6B, PDC and RHO in all dog breeds and Spitz-only respectively. Five SNPs identified in PDC gene of Spitz-only breed showed significant association with PRA. However, no pathogenetically relevant mutations were found in RHO gene for PRA. The SNP in PDE6B chr3: 91763017 (G/A) in Spitz-only breed, and PDE6A chr4: 5912574 (T/C) and PDC chr7: 19511750 (T/A) were associated with PRA in the breeds of dog studied. Our results show that PRA is genetically heterogeneous and is caused by multiple, distinct mutations.

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mentioning

confidence: 99%

Identification of Genetic Variants in PDC, RHO, PDE6A and PDE6B in Dogs with Progressive Retinal Atrophy

Pandya¹,

Kelawala²,

Patel³

et al. 2016

Current Science

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“…In controlled circumstances (Parry, 1953) Irish Setter dogs and bitches were equally prone to PRA, suggesting autosomal location of the gene, but certain clinical communications dealing with other breeds suggest the possibility of sex linkage (see Fig. 1) or limitation.…”

Section: Sex Linkage/limitationmentioning

confidence: 99%

“…The characteristic features of the defect differ from breed to breed; for example, in the Labrador Retriever and Border Collie degenerative signs commence at the centre of the retina (Parry, 1954c;Barnett, 1966Barnett, , 1967Barnett, , 1969a while in the Irish Setter, Miniature and Toy Poodle they begin at the periphery (Hodgman et al, 1949;Parry, 1953;Barnett, 1965bBarnett, , 1965d. The earliest changes may be detectable at 6-8 weeks in the Irish Setter (Hodgman et al, 1949;Parry, 1953), 6-8 months in the Elkhound (Cogan & Kuwabara, 1965) and at less than 1 year in the Cairn, Miniature Long-haired Dachshund and Cardigan Welsh Corgi (Barnett, 1966).…”

Section: N T H E Dogmentioning

confidence: 99%

“…The earliest changes may be detectable at 6-8 weeks in the Irish Setter (Hodgman et al, 1949;Parry, 1953), 6-8 months in the Elkhound (Cogan & Kuwabara, 1965) and at less than 1 year in the Cairn, Miniature Long-haired Dachshund and Cardigan Welsh Corgi (Barnett, 1966). In most other breeds signs appear in animals older than 2 and sometimes as old as 8 (Parry, 1954c;Barnett, 1965b.…”

Section: N T H E Dogmentioning

confidence: 99%

“…In most other breeds signs appear in animals older than 2 and sometimes as old as 8 (Parry, 1954c;Barnett, 1965b. Pigmentation of the retina is seen in some breeds but not in others (Magnussen, 191 1 ;Barnett, 1969b) and the condition may be associated with cataract, lens luxation, glaucoma, deafness, albinism and retinal detachment (Hodgman et al, 1949;Parry, 1953 ;Pesce, 1953;Parry, 1954a;Barnett, 1962. The clinical signs and histopathology (Magnussen, 191 1 ;Hodgman et al, 1949;Seiferle, 1949; 1953 ; Barnett, 1965c), histochemistry, electron microscopy (Cogan & Kuwabara, 1965), electroretinography (Parry, Tansley & Thomson, 195 1, 1953) and genetics (Parry, 1953;Cogan & Kuwabara, 1965;Barnett, 1965c) have all been discussed.…”

Section: N T H E Dogmentioning

confidence: 99%

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Progressive retinal atrophy

Black¹

1972

J of Small Animal Practice

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A B S T R A C TThe literature on the genetics of progressive retinal atrophy has been reviewed with reference to hereditary degeneration of the retina in man and other animals. Of the possible modes of transmission only simple recessive autosomal genes have been unequivocally implicated. The British Veterinary Association Scheme to combat this illness is criticized as being unsuited to a recessively controlled condition which often makes its first appearance in mature animals. Criticisms are that the breeding potential of the afflicted animals is reduced inefficiently and in any case that afflicted dogs form only a small proportion of those carrying the gene. I t is suggested that a register be opened to note the afflicted, carrier and suspect carrier animals and that stronger pressures than at present be brought to bear on the owners to prevent breeding.

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