Broadening the phenotype of LRRK1 mutations - Features of malignant osteopetrosis and optic nerve atrophy with intrafamilial variable expressivity

Author(s):  
Odelia Chorin ◽  
Guy Chowers ◽  
Rawan Agbariah ◽  
Shani Karklinsky ◽  
Ortal Barel ◽  
...  
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

Author(s):  
I.A. Kazennova ◽  
◽  
A.D. Chuprov ◽  
A.E. Voronina ◽  
A.N. Kazennov ◽  
...  

Purpose. To increase the efficiency of diagnostics of glaucomatous process in the early stages using microperimetry. Materials and methods. We examined 15 patients (30 eyes) aged 43-71 years (average age 62 years) with the initial stage of POAG, the duration of the disease was 8-36 months. The control group consisted of 10 patients (20 eyes), somatically healthy individuals without concomitant ophthalmopathology. In addition to standard research methods, the following were additionally carried out: optical coherence tomography (OCT) of the optic nerve disk, macular OCT for analyzing the thickness of the ganglion cell complex, angio-OCT of the optic disc and macula, and microperimetry. Results. When conducting microperimetric studies, a decrease in the average threshold photosensitivity AvThr (20 (4.8-23.3)) and the index of macular preservation MI (23 (2.8-26.8)) in patients with POAG was found in comparison with the control group. During OCT of the optic disc and macula, no changes were recorded in both groups, and there was no decrease in peripapillary perfusion during angio-OCT of the optic disc. However, in patients with POAG, during angio-OCT in the macular area, attention is drawn to some of its expansion and deformation, which confirms the fact that the macular area is involved in the glaucomatous process, which affects the photosensitivity of the cells of the central retinal area. Conclusion. Thus, the decrease in the average threshold of sensitivity in patients with POAG revealed by microperimetry makes it possible to detect glaucoma in the early stages, as well as to assess the dynamics of the glaucomatous process, which in its turn increases the effectiveness of treatment of patients. Key words: glaucoma, glaucomatous process progression, computer perimetry, microperimetry, optic nerve atrophy.


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