Genetic Variability of Blue-Green Disorders and Forms of Optic Nerve Atrophy

2015 ◽  
pp. 230-230
Author(s):  
H. Volker-Dieben ◽  
E. C. de Vries-de Mol ◽  
L. N. Went
1976 ◽  
Vol 173 (3-4) ◽  
pp. 230-230
Author(s):  
H. Volker-Dieben ◽  
E.C. Vries-de Mol ◽  
L.N. Went

Meta Gene ◽  
2014 ◽  
Vol 2 ◽  
pp. 72-82 ◽  
Author(s):  
Anne Hoppe ◽  
Jan Heinemeyer ◽  
Eva Klopocki ◽  
Luitgard M. Graul-Neumann ◽  
Birgit Spors ◽  
...  

JAMA ◽  
1896 ◽  
Vol XXVII (19) ◽  
pp. 988
Author(s):  
CHARLES W. KOLLOCK

Author(s):  
M.R. Khabazova ◽  
◽  
E.E. Ioyleva ◽  
N.A. Gavrilova ◽  
N.S. Gadzhieva ◽  
...  

A case with ophthalmological manifestations of two genetically determined diseases in one patient with a progressive decrease in visual functions is considered. The clinical picture and modern diagnostic methods necessary for the clinical diagnosis are reflected. The rare occurrence of combinations of congenital diseases of the cornea and optic nerve disc requires special attention during ophthalmological examination. Key words: corneal dystrophy, comorbidity, inherited diseases, optic nerve atrophy, optic disc drusen.


Author(s):  
A.O. Nazarenko ◽  
◽  
E.E. Sidorenko ◽  
D.V. Miguel ◽  
A.S. Smartsev ◽  
...  

A clinical case of observation of a 3-year-old child with a newly diagnosed optic nerve coloboma and multiple malformations is considered. The clinical picture and diagnostic methods necessary for the diagnosis are reflected. On the example of this child, the differential diagnosis with Charge syndrome is considered. Key words: coloboma, optic nerve coloboma, partial optic nerve atrophy, astigmatism, Charge syndrome.


2008 ◽  
Vol 19 (3) ◽  
pp. 353-363 ◽  
Author(s):  
James E. Jan ◽  
Geoffrey C. Robinson ◽  
Claire Kinnis ◽  
Patrick J. M. MacLeod

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