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Impressum
Hereditary optic atrophy: clinical variability and the value of molecular genetic testing
1Kellner U., 2Pesch U. E., 2Baumann B., 1Jandeck C., 1Foerster M. H., 2Wissinger B.
1Augenklinik, UKBF, FU Berlin, 12200 Berlin; 2Molekulargenetisches Labor, Univ.-Augenklinik, Tübingen, Auf der Morgenstelle 15, 72076 Tübingen
Objective: To analyse the value of molecular genetic testing in
patients with hereditary optic atrophy. Patients and methods: Retrospective
analysis of clinical and electrophysiologic findings in 25 patients, in
whom either mutations of the mitochondrial genome (Leber hereditary optic
neuropathy; LHON) or mutations in the OPA1-gene (autosomal dominant optic
atrophy; ADOA) were defined as causative by molecular genetic testing.
Results: In 16 patients (10 families; LHON) mitochondrial mutations
were detected, in 9 patients (3 families; ADOA) mutations in the OPA1-gene
were present. The disease expression was variable in both groups. The
onset of disease was between 7 and 62 years of age in the LHON-group and
between 1 and 46 years of age in the ADOA-group. All patients presented
with colour vision deficiencies and pathologic findings of the optic disc.
Visual acuity loss and visual field defects were highly variable in both
groups. Pattern-VEPs were pathologic in all patients with LHON but normal
in some patients with ADOA. In one patient with LHON complete restriction
of alcohol and nicotine use saved visual function in one eye.
Conclusion: Due to the high variability of disease expression the
family history and clinical findings are of limited diagnostic use for
the individual patient. Colour vision deficiencies and optic disc abnormalities
are suggestive for a hereditary optic atrophy. Molecular genetic testing
is important for the correct diagnosis, treatment choices (restriction
of alcohol and nicotine in LHON patients) and the genetic counselling
of the patients.