Clinical feature of 9 patients harboring mtDNA G11778 A mutation with Leber hereditary optic neuropathy / 国际眼科杂志(Guoji Yanke Zazhi)

ABSTRACT

AIM: To evaluate the clinical feature of 9 patients harboring mitochondrial DNA ( mtDNA ) G11778A mutation with Leber hereditary optic neuropathy ( LHON) . ●METHODS: Nine LHON patients were enrolled and followed- up between 2012 to 2015 in Shenzhen Eye Hospital, clinical data were collected and analyzed. ●RESULTS: Six cases had maternal inheritance history ( 67%) . Three were sporadic cases. The patients aged from 9 to 43 years old, with average age of (22. 00±9. 42) years. Simultaneous onset with both eyes was in 5 cases (56%). Successively onset was in other 4 cases (44%). The ratio between male and female was 21. In the last follow-up, the visual acuity was finger counted in 2 eyes (11%), 0. 01-0. 1 in 12 eyes (67%), 0. 12-0. 4 in 2 eyes (11%),≥0. 4 in 2 eyes (11%). All patients had pale disc and clear boundary. ln the Humphrey visual field examination, 10 eyes had typically cecocentral or paracentral scotoma, 8 eyes had diffuse visual field defect. ●CONCLUSION: ln the 9 LHON patients with mtDNA G11778A mutation, simultaneous onset cases were more than successively onset cases within 1y cases. In most cases, LHON patients kept stable visual acuity. Rare cases had a raise in visual acuity within 1y. Majority patients had typically cecocentral or paracentral visual field scotoma. In the last stage of LHON, visual field present diffused defect. The secondary affected eye was similar performed defect as the former one.