Document Detail

Sporadic Leber hereditary optic neuropathy in Australia and New Zealand.
MedLine Citation:
PMID:  8742999     Owner:  NLM     Status:  MEDLINE    
BACKGROUND: Leber hereditary optic neuropathy (LHON) is one of the more common forms of hereditary optic neuropathy and one of the few mitochondrial neuropathies. Prior to the advent of molecular DNA testing, the diagnosis depended on the recognition of typical fundal changes, as well as a family history of maternal transmission. Sporadic cases were therefore diagnosed with a level of uncertainty. The aim of this study is to identify the proportion of patients with idiopathic bilateral optic neuropathy/atrophy who are suffering from LHON. METHODS: Requests were sent to all ophthalmologists and neurologist in Australia and New Zealand for blood or hair follicle samples of patients with diagnosis of bilateral optic neuropathy/atrophy of uncertain aetiology for DNA testing by restriction endonuclease analysis. RESULTS: One hundred and forty-four samples were received, of which 96 were sporadic cases of idiopathic optic atrophy. Eleven of these sporadic patients were found to harbour pathogenetic mitochondrial point mutations associated with LHON. CONCLUSIONS: Our results indicated that 11% of patients with bilateral optic neuropathy/atrophy of uncertain aetiology are suffering from LHON. Comparing this data with all the known familial cases of LHON, we report that at least 8% of all LHON cases in Australia are sporadic. We concluded that mtDNA testing for LHON in patients with idiopathic optic atrophy should be included in the initial laboratory work-up.
C Chan; D A Mackey; E Byrne
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Australian and New Zealand journal of ophthalmology     Volume:  24     ISSN:  0814-9763     ISO Abbreviation:  Aust N Z J Ophthalmol     Publication Date:  1996 Feb 
Date Detail:
Created Date:  1996-10-01     Completed Date:  1996-10-01     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8505423     Medline TA:  Aust N Z J Ophthalmol     Country:  AUSTRALIA    
Other Details:
Languages:  eng     Pagination:  7-14     Citation Subset:  IM    
University of Melbourne, Department of Ophthalmology, St. Vincents Hospital, Victoria, Australia.
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MeSH Terms
Australia / epidemiology
Base Sequence
DNA Mutational Analysis
DNA, Mitochondrial / genetics*
Genetic Markers
Molecular Sequence Data
New Zealand / epidemiology
Oligonucleotide Probes / chemistry
Optic Atrophies, Hereditary / epidemiology,  genetics*
Point Mutation / genetics*
Reg. No./Substance:
0/DNA, Mitochondrial; 0/Genetic Markers; 0/Oligonucleotide Probes

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