Progressive Retinal Atrophy, crd SWD Overview
Progressive Retinal Atrophy, crd SWD
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Category: Ophthalmologic - Associated with the eyes and associated structures
Gene: Nephrocystin 4 (NPHP4) on Chromosome 5
Variant Detected: Nucleotide Deletion g.62913591–62913770del (exon 5/intron 5)
Severity: Scale 3 has a moderate degree of severity, as it is not a fatal disease, though it can decrease the quality of life.
Mode of Inheritance: Autosomal Recessive
Research Citation(s): Wiik AC, et al. A deletion in nephronophthisis 4 (NPHP4) is associated with recessive cone-rod dystrophy in standard wire-haired dachshund. (2008) Gen Res 18(9);1415-1421.
Associated Breed(s): Miniature Dachshund Wire Hair, Mixed Breed,