Leber Optic Neuropathy and Low Vision Rehabilitation: A Case Report

Case Report

Austin Ophthalmol. 2023; 7(3): 1052.

Leber Optic Neuropathy and Low Vision Rehabilitation: A Case Report

Hasnaoui Ihssan*; Hazil Zahira; Salma Hassina; Krichen Amine; Louai Serghini; Abdellah Elhassan

Department of Ophtalmologie B & Faculty of Medicine and Pharmacy, Hospital of Specialities, CHU ibn Sina, University Mohamed V, Rabat, Morocco

*Corresponding author: Hasnaoui I Department of Ophtalmology B, Faculty of Medicine and Pharmacy, University Mohamed V, Av Abderrahim Bouabid, 10100 Rabat, Morocco. Email: ihssanhasnaoui@gmail.com

Received: September 29, 2023 Accepted: November 02, 2023 Published: November 09, 2023

Abstract

Leber’s Hereditary Optic Neuropathy (LHON) is a maternally inherited mitochondrial disease, characterized by point mutations in mitochondrial DNA and subsequent mitochondrial dysfunction; which leads to a bilateral and painless loss of central vision. Unfortunately at this time, there is no proven treatment to prevent or reverse this optic neuropathy. Therefore, individualized low vision rehabilitation services and assistive devices are essential to help people with LHON regain their independence and quality of life. We highlight through a case study the importance of psychic support as well as the impact of low vision rehabilitation on a young man with LHON.

Keywords: Leber’s hereditary optic neuropathy; low vision rehabilitation.

Introduction

First reported by Von Graefe in 1858, then by Théodore Leber in 1871, Leber optic neuropathy is an inherited genetic disease of maternal transmission, characterised by the presence of mutations in the mitochondrial genome. Several mutations have been described, the main ones being 11778, 3460, 14484 and 15257; they affect genes coding for co-factors in the cellular respiratory chain. It is characterised by an acute or sub-acute, unilateral then rapidly bilateral decrease in profound visual acuity, mainly affecting young men.

Case Presentation

A 17-year-old patient presented with a progressive decline in visual acuity over the last year in the left eye and 5 months later in the right eye, accompanied by bothersome glare in daylight. Despite optical correction, the condition worsened. The medical history revealed no congenital or systemic diseases, no drug or substance abuse, and no family history of visual impairment. On presentation, the patient's Best Corrected Visual Acuity (BCVA) was 1/10 on the right and finger movement on the left. Following biomicroscopic assessment, the ocular surface, anterior segment and intraocular pressure were normal. Nonetheless, it was noted that a relative afferent pupillary deficit was present on the right side, alongside temporal sectorial papillary pallor in both eyes (Figure 1). There were no notable features found during neurological and general examinations. Fluorescein angiography revealed no abnormalities in the retention or leakage in the late phase, as illustrated in Figure 2. The visual field examination indicated a near-total deficiency in the left eye and a central scotoma in the right, with colour vision abnormalities evident along the red-green axis. In the EPI, the P2 wave amplitudes were significantly low in response to all eye stimuli (refer to Figure 3), while the electroretinogram showed normal results. Moreover, the optic nerves exhibited atrophic features, particularly in their intra-orbital segments, as shown in the orbito-cerebral MRI, and the biological work-up yielded negative findings.