Papillitis as an onset sign of Leber's hereditary optic neuropathy: a case report


      Leber's hereditary optic neuropathy is a maternally transmitted disease resulting from a point mutation in mitochondrial (mt) DNA. In this report we describe a case of Leber's disease with typical clinical findings but atypical ophthalmoscopic presentation. A 14-year-old boy developed severe loss of vision acuity in the left eye, with only partial recovery, followed 4 months later by the same symptoms in the right eye. Fundoscopic examination showed hyperemic papilla on the right eye and optic disc pallor on the left eye. Polymerase chain reaction analysis of lymphocytic mt-DNA revealed a point mutation at 11 778. Leber's disease should be considered in young patients (not always male) with sudden visual loss and simple papillary involvement at fundoscopic examination but without the typical telangiectatic microangiopathy.


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        • Leber T.
        Ueber hereditare und congenital-anelegte Sehnerven-leiden.
        Grafes Arch Ophthalmol. 1871; 17: 249-291
        • Wallace D.C.
        • Singh G.
        • Lott M.T.
        • Hodge J.A.
        • Schurr T.G.
        • Lezza A.M.
        • et al.
        Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
        Science. 1988; 242: 1427-1430
        • Riordan-Eva P.
        • Sanders M.D.
        • Govan G.G.
        • Sweeney M.G.
        • Da Costa J.
        • Harding A.E.
        The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation.
        Brain. 1995; 118: 319-337
        • Chalmers R.M.
        • Schapira A.H.V.
        Clinical, biochemical and molecular genetic features of Leber's hereditary optic neuropathy.
        Biochim Biophys Acta. 1999; 1410: 147-158
        • Aicardi J.
        Diseases of the nervous system in childhood. 2nd ed. Mac Keith Press, London1998
        • Carelli V.
        • Ghelli A.
        • Bucchi L.
        • Montagna P.
        • De Negri A.
        • Leuzzi V.
        • et al.
        Biochemical features of mtDNA 14484 (ND6/M64V) a point mutation associated with Leber's hereditary optic neuropathy.
        Ann Neurol. 1999; 45: 320-328
        • Kellar-Wood H.
        • Robertson N.
        • Govan G.G.
        • Compston A.S.
        • Harding A.E.
        Leber's hereditary optic neuropathy mitochondrial DNA mutations in multiple sclerosis.
        Ann Neurol. 1994; 36: 109-112
        • Kriss A.
        • Francis D.A.
        • Cuendet F.
        • Halliday A.M.
        • Taylor D.S.
        • Wilson J.
        • et al.
        Recovery after optic neuritis in childhood.
        J Neurol Neurosurg Psychiatry. 1988; 51: 1253-1258
        • Nikoskelainen E.
        • Hoyt W.F.
        • Nummelin K.
        Ophthalmoscopic findings in Leber's hereditary optic neuropathy. The fundus findings in the affected family members.
        Arch Ophthalmol. 1983; 101: 1059-1068
        • Newman N.J.
        • Lott M.T.
        • Wallace D.C.
        The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation.
        Am J Ophthalmol. 1991; 111: 750-762