Programm                 "Degeneration und Regeneration– Grundlagen, Diagnostik und Therapie"

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Leber`s Hereditary Optic Neuropathy (LHON): Progress in Molecular Genetics - Unsolved Problems

Leo-Kottler B.
Universitäts-Augenklinik II, Tübingen

Purpose: Representation of the spectrum of clinical courses and molecular genetic results in patients with LHON in Central Europe.
Method: 140 LHON-patients from 109 pedigrees underwent clinical ophthalmologic examination. Total lymphocyte mitochondrial DNA was analyzed for all common LHON mutations in these patients. If the patients did not harbour any of the common or described rare LHON mutations, sequence analysis of the whole mitochondrial genome was performed.
Results: 93 patients from 75 pedigrees (76 men, 11 women, 6 children) harboured the 11778 mutation, 20 patients from 12 pedigrees (14 men, 5 women, 1 child) harboured the 3460 mutation, 15 patients from 12 pedigrees (13 men, 2 women) harboured the 14484 mutation. In 11 cases there was one of the rare LHON-associated mutations, in one case no mutation could be proved. The clinical picture of LHON varied regarding the visual outcome (some patients showed remarkable visual recovery), the degree of the disease (abortive, unilateral), the duration of progression of LHON and the accompanying symptoms (patients with additional neurologic disease).
Conclusions: Although clearly associated with LHON, mitochondrial DNA mutations do not appear to be the sole determinant of the phenotype of the disease. However, molecular genetic analysis is always necessary to confirm the diagnosis, especially in atypical LHON cases. Additional factors (environmental/ m

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