Case report of Leber hereditary optic neuropathy (LHON)
Reviewed by Claire Howard

This case report presents a 74-year-old male patient who developed LHON, with a previous diagnosis of bilateral macular holes. LHON occurs predominantly in healthy young men and onset in older age ranges increases the likelihood that the patient will have had other systemic or eye diseases, which can make diagnosis a challenge. In the case study reported, bilateral macular holes resulted in central scotomas and reduced visual acuity. Both macular holes were closed by a combined vitrectomy with phacoemulsification. As a result of this intervention, his visual acuity improved. Central scotoma then relapsed a year after surgery, which was initially attributed to the macular hole. However, OCT images showed the macular hole was still closed. Following a full investigation, LHON was diagnosed after mitochondrial genetic analysis revealed a 11778G-A mutation. The authors discuss possible causes for late onset of LHON including intraocular pressure fluctuation, intraocular tamponade and postoperative posturing. 

Leber hereditary optic neuropathy associated with bilateral macular holes.
Shimada Y, Horiguchi M.
NEURO-OPHTHALMOLOGY
2016;40(3):125-9.