Vision Recovery Despite Retinal Ganglion Cell Loss in Leber's Hereditary Optic Neuropathy

Abstract

Purpose: To report vision recovery in a single case of Leber's hereditary optic neuropathy (LHON) (mtDNA14484/ND6 mutation) with longitudinal documentation of retinal ganglion cell layer by ocular coherence tomography (OCT) that includes the pre-onset, acute, and chronic stages of vision loss.

Case report: We report LHON in a 16-year-old male patient with Type 1 diabetes and known and documented family history of LHON. The patient presented with best-corrected visual acuities of right eye 20/150 and left eye 20/25-. His retinal nerve fiber layer had thickened compared with baseline measures obtained 19 months before the onset of vision loss. Vision rapidly reduced to "hand movements" vision in each eye over the following 2 months. Despite OCT-documented significant recalcitrant loss of ganglion cell layer, visual acuity remarkably recovered to right eye 20/40+ left eye 20/50+ 16 months after onset of neuropathy.

Conclusions: A selective loss of ganglion cells and nerve fiber layer can be documented in LHON. Significant recovery of visual acuity can occur without apparent structural recovery.