Abstract
Retinitis pigmentosa (RP) is a genetically heterogeneous retinal disease. Typically beginning with night blindness, RP is characterized by rod cell degeneration followed by cone cell death, which may ultimately lead to complete blindness. Despite extensive knowledge about genes involved in RP pathogenesis, in several cases the genetic cause remains elusive.
Highlights
Retinitis pigmentosa (RP) is a genetically heterogeneous retinal disease
We aimed to identify novel genes that are involved in the etiology of RP
mevalonate kinase (MK) enzyme activity was analyzed in cultured lymphoblastoid cells and mevalonic acid levels were measured in urine samples
Summary
Retinitis pigmentosa (RP) is a genetically heterogeneous retinal disease. Typically beginning with night blindness, RP is characterized by rod cell degeneration followed by cone cell death, which may lead to complete blindness. All three affected individuals showed a significantly decreased mevalonate kinase activity and strongly elevated levels of urinary mevalonic acid
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