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Progressive retinal atrophy (PRA) is an autosomal recessive inherited progressive retinal disease.
10 working days
Swab, Blood EDTA, Blood Heparin, Semen, Tissue
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Progressive retinal atrophy (PRA) is an autosomal recessive inherited progressive retinal disease. The retinal degeneration results in loss of vision. The disease is caused by a mutation in the SLC4A3 gene.
Clinical signs include night blindness and loss of peripheral vision.
Pubmed ID: 21738669
Omia ID: 1572