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H372

Cone-rod dystrophy (CRD, also known as crd-PRA) affects the photoreceptor cells in the eye involved in both night and day vision.

10 working days

Caractéristiques

Breeds

Gene

Organ

specimen

Swab, Blood EDTA, Blood Heparin, Semen, Tissue
Mode of Inheritance

Chromosome

Also known as

Year Published

Informations générales

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.

Caractéristiques cliniques

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.

Additional Information

Références

Pubmed ID: 18687878

Omia ID: 1455

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