On the many faces of Leber hereditary optic neuropathy

• Published in: Clinical genetics Vol. 51; no. 6; pp. 388 - 393
• Main Authors: Oostra, R.J., Tijmes, N.T., Cobben, J.M., Boihuis, P.A., van Nesselrooij, B.P.M., Houtman, W.A., de Kok-Nazaruk, M.M., Bleeker-Wagemakers, E.M.
• Format: Journal Article
• Language: English
• Published: Oxford, UK Blackwell Publishing Ltd 01.06.1997; Blackwell
• Subjects: Age of Onset; Biological and medical sciences; Child; Child, Preschool; diagnostic criteria; Diseases of visual field, optic nerve, optic chiasma and optic tracts; DNA, Mitochondrial - genetics; Evoked Potentials, Visual; Female; genetic counselling; Humans; Infant, Newborn; Leber hereditary optic neuropathy; Male; Medical sciences; Middle Aged; mitochondrial ONA mutations; Mutation; Ophthalmology; Optic Atrophies, Hereditary - diagnosis; Optic Atrophies, Hereditary - genetics; Optic Atrophy - diagnosis; Optic Atrophy - genetics; Pedigree; Human; Family study; Clinical form; Mitochondrial DNA; Genetic disease; Case study; Eye disease; Cranial nerve disease; Genetics; Leber optic neuropathy; Atypical; Diagnosis; Mutation
• ISSN: 0009-9163; 1399-0004
• DOI: 10.1111/j.1399-0004.1997.tb02496.x

Leber hereditary optic neuropathy (LHON) is a maternally inherited disorder, associated with mutations in the mitochondrial DNA, which is notorious for its aspecific presentations. Two pedigrees are described with cases that are atypical for LHON with respect to sex, age of onset, interval between the eyes becoming affected, course of the disease, concomitant disorders, additional test results, final visual acuity, and/or results of mtDNA analysis. Moreover, the pedigrees themselves did not suggest maternal inheritance. We analysed the diagnostic and clinical genetic difficulties related to the atypical aspects of these pedigrees. We conclude that mtDNA analysis is justified in every case of optic nerve atrophy with no clear cause. Identification of one of the three LHON specifically associated mtDNA mutations is essential to confirm the diagnosis.