Leber Mitochondrial Optic Neuropathy in Pediatric Females With Focus on Very Early Onset Cases

The aim of this study was to describe the phenotype of Leber hereditary optic neuropathy occurring in pediatric females. This disease generally affects young adult males, but it can occur also in females, and research data in this population is lacking. The very early onset can challenge the diagnosis and delay treatment. We searched PubMed through February 2021 and identified 226 pediatric females with genetically confirmed Leber hereditary optic neuropathy and added a new case of a 3-year-old female. The male-female ratio was 1.8:1; the mean onset age in females was 11 years with the onset at 3 years of age occurring in 3 females only. Acute onset with mild visual impairment was the most common presentation, associated with optic disc edema in 16%. Differential diagnoses are pseudotumor cerebri, optic nerve drusen and optic neuritis. The outcome is poor with partial recovery in 50%, despite some receiving Idebenone therapy.

Automated summary

The study aimed to describe the phenotype of Leber hereditary optic neuropathy in pediatric females. It is a rare disease in this population and there is a lack of research data. The average onset age in females was 11 years, with only 3 cases occurring at 3 years of age. The most common presentation was acute onset with mild visual impairment, often accompanied by optic disc edema. The outcome is generally poor, with only 50% of patients experiencing partial recovery, despite some receiving Idebenone therapy.