Nieuwe therapie voor hereditaire opticusneuropathie van Leber

Background

Leber hereditary optic neuropathy (LHON) is an orphan disease which leads to painless subacute loss of central vision in both eyes. It develops mainly in young adults and is more common in males. It most often leads to lifelong blindness. Idebenone has shown to have a favourable effect in promoting vision recovery in LHON-patients with recent visual impairement.

Case description

Two male LHON patients, aged 27 and 54 years of age were misdiagnosed during one year with optic neuritis and conversion disorder. The delay caused unnecessary emotional suffering and took away the opportunity of idebenone treatment. This can be prevented by greater awareness of disease characteristcs and OCT-scanning.

Conclusion

Therapy for LHON requires a timely diagnosis.

Conflict of interest and financial support: potential conflicts of interest have been reported for this article. ICMJE forms provided by the authors are available online along with the full text of this article.