Premium
On the many faces of Leber hereditary optic neuropathy
Author(s) -
Oostra R.J.,
Tijmes N.T.,
Cobben J.M.,
Boihuis P.A.,
Nesselrooij B.P.M.,
Houtman W.A.,
KokNazaruk M.M.,
BleekerWagemakers E.M.
Publication year - 1997
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1997.tb02496.x
Subject(s) - pedigree chart , mitochondrial dna , mitochondrial disease , optic neuropathy , leber's hereditary optic neuropathy , genetics , atrophy , mutation , genetic counseling , medicine , disease , biology , optic nerve , ophthalmology , pathology , gene
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.