Leber's disease in the Netherlands

Hereditary optic neuropathies

“…Numerous pedigrees of Leber's hereditary optic neuropathy (LHON) have since been reported worldwide. [5][6][7][8][9][10][11][12][13][14] Since the late 1980s, LHON has received notoriety as a maternally inherited disease linked to abnormalities in mitochondrial DNA. 2,7,9,11,[14][15][16][17][18][19][20] Genetic analysis has broadened our view of what constitutes the clinical presentation of LHON.…”

“…[23][24][25] Men are affected with visual loss more frequently than women, with a male predominance of about 80 to 90% in most pedigrees. [6][7][8][9][10] Approximately 20 to 60% of men at risk for LHON experience visual loss. 6,23,24,26 Among women at risk, the occurrence rate ranges from 4 to 32%.…”

“…[6][7][8][9][10] Approximately 20 to 60% of men at risk for LHON experience visual loss. 6,23,24,26 Among women at risk, the occurrence rate ranges from 4 to 32%. 6,23,24,26 Affected females are more likely to have affected children, especially daughters, than unaffected female carriers.…”

“…6,23,24,26 Among women at risk, the occurrence rate ranges from 4 to 32%. 6,23,24,26 Affected females are more likely to have affected children, especially daughters, than unaffected female carriers. 6,27 Mackey 23,24 reported that approximately 20% of male and 4% of female carriers in Australia lose vision.…”

“…6,23,24,26 Affected females are more likely to have affected children, especially daughters, than unaffected female carriers. 6,27 Mackey 23,24 reported that approximately 20% of male and 4% of female carriers in Australia lose vision. Mackey and Howell 28 noted that there has been a dramatic decline in the risk of visual loss among pedigrees with LHON in Australia and a definite decrease in penetrance over the past century.…”