On the many faces of Leber hereditary optic neuropathy

R. J. Oostra; N. T. Tijmes; J. M. Cobben; P. A. Bolhuis; B. P.M. Van Nesselrooij; W. A. Houtman; M. M. De Kok-Nazaruk; E. M. Bleeker-Wagemakers

On the many faces of Leber hereditary optic neuropathy

R. J. Oostra^*, N. T. Tijmes, J. M. Cobben, P. A. Bolhuis, B. P.M. Van Nesselrooij, W. A. Houtman, M. M. De Kok-Nazaruk, E. M. Bleeker-Wagemakers

^*Corresponding author for this work

Research output: Contribution to journal › Article › Academic › peer-review

12 Citations (Scopus)

Abstract

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.

Original language	English
Pages (from-to)	388-393
Number of pages	6
Journal	Clinical Genetics
Volume	51
Issue number	6
Publication status	Published - 8 Jul 1997

Keywords

Diagnostic criteria
Genetic counselling
Leber hereditary optic neuropathy
Mitochondrial DNA mutations

Cite this

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title = "On the many faces of Leber hereditary optic neuropathy",

abstract = "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.",

keywords = "Diagnostic criteria, Genetic counselling, Leber hereditary optic neuropathy, Mitochondrial DNA mutations",

author = "Oostra, {R. J.} and Tijmes, {N. T.} and Cobben, {J. M.} and Bolhuis, {P. A.} and {Van Nesselrooij}, {B. P.M.} and Houtman, {W. A.} and {De Kok-Nazaruk}, {M. M.} and Bleeker-Wagemakers, {E. M.}",

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AU - Oostra, R. J.

AU - Tijmes, N. T.

AU - Cobben, J. M.

AU - Bolhuis, P. A.

AU - Van Nesselrooij, B. P.M.

AU - Houtman, W. A.

AU - De Kok-Nazaruk, M. M.

AU - Bleeker-Wagemakers, E. M.

PY - 1997/7/8

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N2 - 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.

AB - 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.

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KW - Genetic counselling

KW - Leber hereditary optic neuropathy

KW - Mitochondrial DNA mutations

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On the many faces of Leber hereditary optic neuropathy

Abstract

Keywords

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