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Cone-rod dystrophy (CRD, also known as crd-PRA) affects the photoreceptor cells in the eye involved in both night and day vision.
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Specifiche
| Breeds | |
|---|---|
| Gene | |
| Organ | |
| specimen | Swab, Blood EDTA, Blood Heparin, Semen, Tissue |
| Mode of Inheritance | |
| Chromosome | |
| Also known as | |
| Year Published |
Informazioni generali
Cone-rod dystrophy (CRD, also known as crd-PRA) affects the photoreceptor cells in the eye involved in both night and day vision. The cells of the retina involved in low light vision, known as rods, are affected first, resulting in night blindness. Subsequently, the bright light photoreceptors known as cones, which are important for colour vision, are also affected, resulting in daytime visual deficit.
This variant of crd, found in the Dachshund, is caused by a recessive mutation to the gene NPHP4.
Caratteristiche cliniche
Cone-rod dystrophy affected dogs show a great variation both in age of onset and in clinical appearance of retinal changes upon fundoscopy. The majority of affected puppies (5–10 weeks) show pin-point sized pupils upon examination with focal light. Generalized bilateral retinal atrophy is the end stage of the disease. Electroretinography is found to be the most reliable diagnostic procedure to clinically diagnose CRD.
Informazioni aggiuntive
Riferimenti
Pubmed ID: 18687878
Omia ID: 1455
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