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Progressive retinal atrophy (PRA) is an autosomal recessive inherited progressive retinal disease.
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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 C2orf71 gene.
Clinical signs include night blindness and loss of peripheral vision.
Pubmed ID: 22686255
Omia ID: 1575