Analysis of pedigrees of Leber’s hereditary optic neuropathy with 11696 mutation

Objective To study the clinical features of 11696 mutation with Leber's hereditary optic neuropathy. Methods We performed sequence analysis of the complete mitochondrial genomes in 54 patients from 51 pedigrees who were clinically diagnosed or suspected LHON. Results A further investigation and study were made for 3 different pedigrees with 11696 mutation. Pertinent clinical and historical date were collected.All of 3 proband were the only one who had visually symptom in his family.The clinical features was similar to those with 11778 mutation. One patients recovered normal visual acuity,while the other two got no change in visual acuity. Conclusion The clinical feature is similar to those with 11778 mutation,but the visual recovery is much different.