New treatment option for Leber hereditary optic neuropathy: early diagnosis is required.

Research output: Contribution to journalLetterResearchpeer-review

Abstract

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.

Translated title of the contributionNew treatment option for Leber hereditary optic neuropathy: early diagnosis is required.
Original languageDutch
Pages (from-to)D5444
Number of pages4
JournalNederlands Tijdschrift voor Geneeskunde
Volume165
Publication statusPublished - Nov 2021

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