97th DOG Annual Meeting 1999
V694
LEBER'S HEREDITARY OPTIC NEUROPATHY (LHON) WITH SPONTANEOUS RECOVERY
B. Leo-Kottler, M. Christ-Adler
Leber's hereditary optic neuropathy (LHON) leads to severe visual loss in most of the affected patients. Spontaneous recovery in LHON was studied in 12 patients, 11 men and one woman.The clinical and molecular genetic findings were compared with 60 LHON-patients without recovery of vision.
Methods: The clinical examination consisted of visual acuity measurements, visual field testing and ophthalmoscopy. Total lymphocyte DNA was analyzed for all common LHON mutations. 11 patients showed one of the classic LHON mutations at nt 3460, nt 11778 or nt 14484. In one patient we yet did not find any LHON-specific mutation.
Results: All the patients presented typical clinical features of LHON. Most of the patients with visual recovery were singleton cases, but family cases existed as well. Some families showed a raised rate of clinically LHON-affected members with recovery. Within the recovery group, women were underrepresented. Patients with the 11778 mutation showed recovery more often than it was to be expected according to the results given by the literature.
Discussion: In former studies, the rate of visual recovery in LHON-affected patients seemed to be higher in patients with the 14484 mutation and also with the 3460 mutation. Recovery of patients with the 11778 mutation was reported to be extemely rare. Our results show a better clinical course even of the 11778 mutation. Perhaps there is - beside exogene influences - also a familiar genetic (?) factor which determines the prognosis of LHON. Special prognostic features of the course of the disease in cases with recovery and possible attempts for treatment are discussed.
University Eye Hospital, Schleichstr. 12-16, D - 72076 Tuebingen
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