Leo-Kottler B., Luberichs J., Besch D., Christ-Adler M., Fauser S.

University Eye Hospital, Schleichstr. 12-16, D-72076 Tuebingen

Leber's hereditary optic neuropathy (LHON) leads to severe visual loss in most of the affected patients. Spontaneous recovery in LHON is rare, especially in patients with the common ND4 gene mutation at np 11778. We describe the clinical and molecular genetic findings of a LHON patient with a new point mutation in the ND4 gene and spontaneous recovery.
Methods: The clinical examination consisted of visual acuity measurements, visual field testing and ophthalmoscopy. Total lymphocyte DNA was analyzed for all common LHON mutations. Because the LHON patient did not harbour any of the common or recently described rare LHON mutations, we performed a sequence analysis of the whole mitochondrial genome.
Results: The patient presented with the typical clinical features of LHON. The patient showed a remarkable visual recovery. He is a singleton case. Sequencing the mitochondrial genome, we found a point mutation in the ND4 gene at np 11253 (T/C transition, changing a conserved isoleucine residue into threonine).
Discussion: To our knowledge, this LHON patient is the first case with a second point mutation within the ND4 gene except the well-known point mutation at np 11778. In former studies, recovery of patients with the np 11778 mutation was reported to be extemely rare. Our results show a better clinical course of this patient with the np 11253 mutation. Interestingly, this point mutation has also been reported in the mitochondria of the substantia nigra in a patient with Parkinson`s disease.

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