hereditary optic atrophy
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2021 ◽  
Vol 30 (4) ◽  
pp. 50-54
Author(s):  
Azalia Aisarovna Sokolova ◽  
◽  
Leonid Sergeevich Zemlyanushin ◽  
Elvira Aysarovna Vashkulatova ◽  
Sofia Mikhailovna Zemlyanushina

The article discusses a clinical case of demyelinating disease of the central nervous system, multiple sclerosis in combination with Leber’s hereditary optic atrophy of the optic nerve (Harding syndrome). The debut of the disease at the age of 24 in the form of a simultaneous bilateral decrease in vision, with subsequent atrophy of the optic nerves in both eyes. The diagnosis of multiple sclerosis was confi rmed according to the 2017 McDonald criteria, the diagnosis of Leber’s disease was confi rmed by genetic testing. An important point in the diff erential diagnosis was the identifi cation of the G3460A mutation in the ND1 gene and intrathecal synthesis of oligoclonal immunoglobulin G.


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

2009 ◽  
Vol 81 (4) ◽  
pp. 349-353 ◽  
Author(s):  
M. Mondelli ◽  
A. Rossi ◽  
C. Scarpini ◽  
M. T. Dotti ◽  
A. Federico

2005 ◽  
Vol 29 (1) ◽  
pp. 9-15
Author(s):  
Golge Acaroglu ◽  
Yasemin Alanay ◽  
Pascal Reynier ◽  
Patrizia Amati-Bonneau ◽  
Gamze Men

1993 ◽  
Vol 52 (3) ◽  
pp. 308
Author(s):  
B. Lach ◽  
J. Mount ◽  
E. A. Shoubridge ◽  
R. Kosabek-Williams ◽  
F. J. Lee ◽  
...  

1989 ◽  
Vol 73 (4) ◽  
pp. 314-316 ◽  
Author(s):  
T A Berninger ◽  
L von Meyer ◽  
E Siess ◽  
O Schon ◽  
F D Goebel

1989 ◽  
Vol 10 (3) ◽  
pp. 211-227 ◽  
Author(s):  
T. A. Berninger ◽  
A. C. Bird ◽  
G. B. Arden

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