Leber’s Hereditary Optic Neuropathy and Ocular Hypertension - a case report

Abstract

Purpose: to report an unusual case of Leber's Hereditary Optic Neuropathy (LHON) and simultaneous ocular hypertension. Methods: case report of a 40 year-old patient, who complained of recently noticed vision loss in the right eye (OD). Results: OD presented with simultaneous ocular hypertension, optic atrophy and total cupping, leading to the suspicion of glaucomatous optic atrophy. Progressive vision loss was later noticed in the left eye (OS), but no fundoscopic findings were detected in sequential examinations. The patient became increasingly anxious and uncooperative, raising the hypothesis of non-organic visual loss in OS. Several visual evoked potentials were needed to prove reduction of P100 wave. Genetic results for LHON were positive for the 11778 G>A mutation. Conclusions: This case highlights the importance of considering the diagnosis of LHON in all cases of unexplained optic neuropathy, including cases with normal fundoscopic appearance. It also emphasizes that nonorganic vision loss should always be a diagnosis of exclusion in the context of unexplained vision loss. Concomitant LHON and glaucoma have been rarely described and it is uncertain whether LHON-associated mitochondrial DNA mutations are risk factors for glaucoma. However it is hypothesized that the two diseases may have a cumulative effect on retinal ganglion cell damage with the consequent rapid progression of visual impairment.