Vision Improvement In A Family With Leber's Hereditary Optic Neuropathy

1. Hong-Zin Lin¹
2. Rong-Kung Tsai¹
3. Cheng-Yoong Pang²
4. Shee-Ping Chen²

¹Buddhist Tzu Chi Medical center, Hualien, Taiwan
²Department of Research, Buddhist Tzu-Chi Medical Center & Graduate Institute of Clinical Medicine, Buddhist Tzu-Chi University, Hualien, Taiwan

Purpose: To report a family of Leber's hereditary optic neuropathy (LHON) carrying the 14484 mutation with visual improvement.

Methods: Case report.

Results: A 15-year-old boy was referred to our hospital due to progressive, painless loss of bilateral vision since 6 months ago.The best-corrected visual acuities were 20/400 in the right eye and 20/400 in the left eye. The pupillary responses were normal. Pale optic discs in the bilateral eyes without telangiectatic vessels near the disc was noted. A fluorescein angiography revealed absence of dye leakage. Leber's hereditary optic neuropathy was suspected. The samples of whole blood and hairs were collected for LHON-associated mitochondrial DNA (mtDNA) analysis, which revealed the T14484C mutation. Tracing the pedigree, his mother, elder brother and sister also had T14484C mutations with visual impairment, except the sister being an asymptomatic carrier. Pentoxifylline and ubidecarenone were prescribed to the patient. After eight months of treatment, the final visual acuities were 20/125 in the right eye and 20/160 in the left eye.

Conclusions: Even with optic atrophy, patients with LHON carringing the 14484 mtDNA mutation have a higher rate of spontaneous improvement of visual function than those with the most common 11778 mutation.