Leber Hereditary Optic Neuropathy (LHON): Genetics and Ophthalmology Case Report

Abstract

It is important to recognize that this clinical case demonstrates that carriers can remain asymptomatic, there may be changes recognizable in the ophthalmological examination. The clinical onset of Leber hereditary optic neuropathy (LHON) usually occurs in young adulthood (ages 18-30) and is divided into subacute (<6 months from onset) and dynamic (6-12 months) stages. It is caused by a mitochondrial mutation that is transmitted from mothers to children. It is the most common inherited mitochondrial disorder, but it is considered a rare disease. It usually causes severe vision loss in both eyes. The classic presentation of LHON is that of a young adult male who develops a severe, painless, acute or subacute unilateral vision loss, followed by a similar vision loss in the fellow eye two to three months later (although rarely the delay can be much longer). In most cases, it starts affecting only one eye and, within a few weeks or months, affects the second eye. It can all be seen with the loss of the pupil's ability to react to light. Complete blindness is rare among patients suffering from this disease.