Leber hereditary optic neuropathy, autosomal recessive

Leber hereditary optic neuropathy, autosomal recessive (LHONAR) is a mitochondrial disease caused by biallelic mutations in genes associated with mitochondrial Complex I. The known genes implicated in this condition include DNAJC30 and NDUFS2. Patients typically experience sudden, painless central vision loss, along with optic nerve microangiopathy and eventual atrophy. The inheritance pattern for LHONAR has not been firmly established, and the prevalence of this condition is not well characterized, which contributes to the challenges in understanding its full clinical spectrum.

The documentation surrounding Leber hereditary optic neuropathy, autosomal recessive is limited due to its rarity and the recent identification of its genetic basis. As this condition affects a small population, systematic clinical studies have been sparse, making comprehensive characterization challenging. Ongoing research may provide more insights in the future.

There are several orphan drugs designated for Leber hereditary optic neuropathy, including elamipretide, idebenone, and lenadogene nolparvovec, among others. Currently, there are two active clinical trials investigating potential therapies for this condition. For more information on these trials, you can visit ClinicalTrials.gov and search for 'Leber hereditary optic neuropathy, autosomal recessive'. This research offers hope for future treatment options.