Abstract
Leber hereditary optic neuropathy (LHON) is one of the most common inherited mitochondrial optic neuropathies, caused by mitochondrial DNA (mtDNA) mutations. Three most common mutations, namely m.11778G>A, m.14484T>G and m.3460G>A, account for the majority of LHON cases. These mutations lead to mitochondrial respiratory chain complex I damage. Typically, LHON presents at the 15–35 years of age with male predominance. LHON is associated with severe, subacute, painless bilateral vision loss and account for one of the most common causes of legal blindness in young individuals. Spontaneous visual acuity recovery is rare and has been reported in patients harbouring m.14484T>C mutation. Up to date LHON treatment is limited. Idebenone has been approved by European Medicines Agency (EMA) to treat LHON. However better understanding of disease mechanisms and ongoing treatment trials are promising and brings hope for patients. In this article we report on a patient diagnosed with LHON harbouring rare m.11253T>C mutation in MT-ND4 gene, who experienced spontaneous visual recovery. In addition, we summarise clinical presentation, diagnostic features, and treatment.
Highlights
Leber hereditary optic neuropathy (LHON) is one of the most frequent mitochondrial disorders and hereditary optic neuropathies
The loss of vision is different from the classic LHON: recurrent episodes of visual loss that can be associated with ocular pain occur
It was thought that these drugs may be beneficial in the early stages of LHON by modifying the natural disease progression but study showed that they did not prevent second-eye involvement [59]
Summary
Leber hereditary optic neuropathy (LHON) is one of the most frequent mitochondrial disorders and hereditary optic neuropathies. It is caused by mitochondrial deoxyribonucleic acid (DNA) mutation. LHON affects young individuals (usually from the age of 15 to 35) with male predominance [1]. Painless bilateral loss of central vision is the main symptom of this disease which makes young people legally blind (V < 0.05) within a few months from disease onset. The loss of vision is usually irreversible, cases describing spontaneous vision recovery have been reported [2]. In 2014, 120 new cases of LHON were diagnosed in Japan, the population of which is estimated to be approximately 127 million [3].
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