Structural model of the OPA1 GTPase domain may explain the molecular consequences of a novel mutation in a family with autosomal dominant optic atrophy

2006 ◽  
Vol 83 (3) ◽  
pp. 702-706 ◽  
Author(s):  
Sharareh Dadgar ◽  
Olivier Hagens ◽  
Seyed Razi Dadgar ◽  
Ehsan Nobakht Haghighi ◽  
Simone Schimpf ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Structural Model ◽  
Autosomal Dominant ◽  
Novel Mutation ◽  
Gtpase Domain ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals Mitochondrial Ca2+ uptake correlates with the severity of the symptoms in autosomal dominant optic atrophy

Cell Calcium ◽  
2015 ◽  
Vol 57 (1) ◽  
pp. 49-55 ◽  
Author(s):  
László Fülöp ◽  
Anikó Rajki ◽  
Erika Maka ◽  
Mária Judit Molnár ◽  
András Spät
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals OPA3-Related Autosomal Dominant Optic Atrophy and Cataract with Ataxia and Areflexia

2012 ◽  
Vol 68 (2) ◽  
pp. 108-110 ◽  
Author(s):  
X. Ayrignac ◽  
C. Liauzun ◽  
G. Lenaers ◽  
D. Renard ◽  
P. Amati-Bonneau ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy

scholarly journals Autosomal dominant optic atrophy: A novel treatment of OPA1 splice defects by U1 snRNA adaption

2021 ◽  
Author(s):  
Christoph Jüschke ◽  
Thomas Klopstock ◽  
Claudia B. Catarino ◽  
Marta Owczarek-Lipska ◽  
Bernd Wissinger ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Novel Treatment ◽  
U1 Snrna

scholarly journals A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy

Brain ◽  
2006 ◽  
Vol 130 (4) ◽  
pp. 1029-1042 ◽  
Author(s):  
M. V. Alavi ◽  
S. Bette ◽  
S. Schimpf ◽  
F. Schuettauf ◽  
U. Schraermeyer ◽  
...  
Keyword(s):  
Splice Site ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
Opa1 Gene

Autosomal Dominant Optic Atrophy

2019 ◽  
pp. 29-34
Author(s):  
Matthew J. Thurtell ◽  
Robert L. Tomsak
Keyword(s):  
Differential Diagnosis ◽  
Optic Atrophy ◽  
Autosomal Dominant ◽  
Spastic Paraparesis ◽  
Progressive External Ophthalmoplegia ◽  
Management Approach ◽  
Chronic Progressive External Ophthalmoplegia ◽  
Autosomal Dominant Optic Atrophy ◽  
Dominant Optic Atrophy ◽  
History Of

There is a broad differential diagnosis for bilateral optic neuropathies, including inflammatory, ischemic, compressive, traumatic, nutritional, toxic, and inherited causes. In this chapter, we begin by discussing the approach to the patient who has bilateral symmetric optic neuropathies. We next review the genetic basis, clinical features, and natural history of autosomal dominant optic atrophy. We list other deficits that can occur in up to 20% of patients with this condition, which can include sensorineural hearing loss, ataxia, myopathy, peripheral neuropathy, spastic paraparesis, and chronic progressive external ophthalmoplegia. Lastly, we discuss the evaluation and management approach for autosomal dominant optic atrophy.

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