Mutation Screening of Mitochondrial DNA as Well as OPA1 and OPA3 in a Chinese Cohort With Suspected Hereditary Optic Atrophy

2014 ◽  
Vol 55 (10) ◽  
pp. 6987-6995 ◽  
Author(s):  
J. Chen ◽  
K. Xu ◽  
X. Zhang ◽  
F. Jiang ◽  
L. Liu ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Atrophy ◽  
Mutation Screening ◽  
Chinese Cohort ◽  
Hereditary Optic Atrophy

HEREDITARY OPTIC ATROPHY WITH DOMINANT TRANSMISSION

2009 ◽  
Vol 28 (4) ◽  
pp. 437-468 ◽  
Author(s):  
C. V. Lodberg ◽  
Axel Lund
Keyword(s):  
Optic Atrophy ◽  
Hereditary Optic Atrophy

Histochemical, Ultrastructural and Biochemical Study of Muscle Mitochondria in Leber’s Hereditary Optic Atrophy

1988 ◽  
pp. 193-197
Author(s):  
A. Federico ◽  
L. Manneschi ◽  
M. Meloni ◽  
C. Alessandrini ◽  
A. M. Bardelli ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Biochemical Study ◽  
Muscle Mitochondria ◽  
Hereditary Optic Atrophy

scholarly journals Harding’s disease: an important MS mimic

2019 ◽  
Vol 12 (3) ◽  
pp. e228337
Author(s):  
Stuti Joshi ◽  
Allan G Kermode
Keyword(s):  
Multiple Sclerosis ◽  
Mitochondrial Dna ◽  
Optic Neuropathy ◽  
Movement Disorders ◽  
Optic Atrophy ◽  
Cardiac Arrhythmias ◽  
Visual Loss ◽  
Mtdna Mutation ◽  
Individual Family ◽  
Hereditary Optic Neuropathy

Leber’s hereditary optic neuropathy (LHON) is a mitochondrially inherited disorder characterised by bilateral, painless visual loss which leads to severe optic atrophy. It can be associated with other conditions including multiple sclerosis (MS), movement disorders, epilepsy and cardiac arrhythmias. The association of LHON with an MS-like illness is often referred to as Harding’s disease (or Harding’s syndrome). We report two siblings, who both harbour the 11 778 mitochondrial DNA (mtDNA) mutation, but who manifest markedly different clinical phenotypes; a male with classical LHON and a female with an MS-like illness. LHON affects males four to five times more often than females. By contrast, Harding’s disease is seen predominantly in females, in a pattern comparable to that seen in MS. The pathogenic basis behind the variation in penetrance and phenotype between genders and individual family members remains unclear.

Hereditary Optic Atrophy

1969 ◽  
Vol 81 (3) ◽  
pp. 359 ◽  
Author(s):  
Lawrence R. Shapiro
Keyword(s):  
Optic Atrophy ◽  
Hereditary Optic Atrophy

scholarly journals OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

2009 ◽  
Vol 10 (1) ◽  
Author(s):  
Denis Pierron ◽  
Marc Ferré ◽  
Christophe Rocher ◽  
Arnaud Chevrollier ◽  
Pascal Murail ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy

2006 ◽  
Vol 8 (4) ◽  
pp. 217-225 ◽  
Author(s):  
Jian Han ◽  
Angela J Thompson-Lowrey ◽  
Alyson Reiss ◽  
Vladimir Mayorov ◽  
Haomiao Jia ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy
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