Zusammenfassung
Die Lebersche hereditäre Optikusneuropathie (LHON; http://omim.org/entry 535000) ist eine seltene erbliche Erkrankung der Ganglienzellen der Netzhaut mit der Folge einer meist bleibenden hochgradigen beidseitigen Visusminderung mit großen zentralen Gesichtsfeldausfällen. Im Anfangsstadium wird die Erkrankung nur in Ausnahmefällen diagnostiziert, meist wird zunächst eine Retrobulbärneuritis angenommen und der LHON-Patient der für eine Neuritis nervi optici üblichen Diagnostik und Therapie unterzogen. Erst dann, wenn sich die Befunde trotz aller therapeutischen Bemühungen nicht bessern, sondern z. B. durch den Befall des zweiten Auges verschlimmern, wird an eine LHON gedacht und die erforderliche beweisführende molekulargenetische Analyse veranlasst. Eine sorgfältige Anamnese inklusive Stammbaumerhebung sowie die Beachtung von Besonderheiten der Papillen des Patienten und seiner Angehörigen können helfen, die klinische Verdachtsdiagnose früher zu stellen. Aber auch bei exakter klinischer und molekulargenetischer Diagnosesicherung gibt die Erkrankung heute noch Rätsel auf.
Abstract
Leber’s hereditary optic neuropathy (LHON) is a rare disease primarily affecting the retinal ganglion cells. In most cases patients with LHON develop permanent visual loss with a large central scotoma in the visual field of both eyes. The optic disc becomes partially or completely pale. At the onset of the disease many patients are considered to suffer from an optic neuritis and are treated under the diagnostic and therapeutic regimen of optic neuritis. LHON is mostly only considered when high dose cortisone therapy fails to be effective or the second eye is affected. Thereafter, molecular genetic analysis will prove LHON in these cases. Detailed anamnesis including pedigree analysis in combination with observance of the peripapillary microangiopathic alterations at the fundus will help to speed up the diagnosis of LHON, but even after exact clinical and molecular genetic diagnosis of LHON some aspects of the disease still remain a mystery today.
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Leo-Kottler, B., Wissinger, B. Lebersche Optikusneuropathie. Ophthalmologe 108, 1179–1194 (2011). https://doi.org/10.1007/s00347-011-2482-y
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DOI: https://doi.org/10.1007/s00347-011-2482-y