AI Article Synopsis
- Leber hereditary optic neuropathy (LHON) is a genetic disorder linked to mitochondrial DNA mutations and has variable clinical presentations.
- Two unusual family cases were described that differed from typical LHON in aspects like age of onset, visual changes, and patterns of inheritance.
- It is important to conduct mitochondrial DNA analysis for any unexplained optic nerve atrophy to confirm the diagnosis of LHON based on identified mutations.
Article 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.
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| http://dx.doi.org/10.1111/j.1399-0004.1997.tb02496.x | DOI Listing |
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