scholarly journals Formation of Macular Inner Nuclear Layer Cysts in Optic Atrophy

2016 ◽  
Vol 57 (3) ◽  
pp. 989 ◽  
Author(s):  
Kim Jiramongkolchai ◽  
M. Tariq Bhatti ◽  
Alan Proia ◽  
Sharon F. Freedman ◽  
Mays A. El-Dairi
Keyword(s):  
Optic Atrophy ◽  
Inner Nuclear Layer

Early signs of primary compressive optic atrophy evidenced by OCT in patients with basal brain tumors

2020 ◽  
Vol 84 (1) ◽  
pp. 35-39
Author(s):  
K. Iegorova ◽  
◽  
M. Znamenska ◽  
M. Guk ◽  
A. Mumliev ◽  
...  
Keyword(s):  
Brain Tumors ◽  
Optic Atrophy ◽  
Early Signs ◽  
Basal Brain

scholarly journals WFS1 protein expression correlates with clinical progression of optic atrophy in patients with Wolfram syndrome

2021 ◽  
pp. jmedgenet-2020-107257
Author(s):  
Kun Hu ◽  
Malgorzata Zatyka ◽  
Dewi Astuti ◽  
Nicola Beer ◽  
Renuka P Dias ◽  
...  
Keyword(s):  
Protein Expression ◽  
Er Stress ◽  
Optic Atrophy ◽  
Wolfram Syndrome ◽  
Luciferase Reporter ◽  
Compound Heterozygous ◽  
Nonsense Mutations ◽  
Functional Studies ◽  
Unfolded Protein ◽  
Protein Response

BackgroundWolfram syndrome (WFS) is a rare disorder characterised by childhood-onset diabetes mellitus and progressive optic atrophy. Most patients have variants in the WFS1 gene. We undertook functional studies of WFS1 variants and correlated these with WFS1 protein expression and phenotype.Methods9 patients with a clinical diagnosis of WFS were studied with quantitative PCR for markers of endoplasmic reticulum (ER) stress and immunoblotting of fibroblast protein extracts for WFS1 protein expression. Luciferase reporter assay was used to assess ATF-6 dependent unfolded protein response (UPR) activation.Results6 patients with compound heterozygous nonsense mutations in WFS1 had no detectable WFS1 protein expression; 3 patients with missense variants had 4%, 45% and 48% WFS1 protein expression. One of these also had an OPA1 mutation and was reclassified as autosomal dominant optic atrophy-plus syndrome. There were no correlations between ER stress marker mRNA and WFS1 protein expression. ERSE-luciferase reporter indicated activation of the ATF6 branch of UPR in two patients tested. Patients with partial WFS1 expression showed milder visual acuity impairment (asymptomatic or colour blind only), compared with those with absent expression (registered severe vision impaired) (p=0.04). These differences remained after adjusting for duration of optic atrophy.ConclusionsPatients with WFS who have partial WFS1 protein expression present with milder visual impairment. This suggests a protective effect of partial WFS1 protein expression on the severity and perhaps progression of vision impairment and that therapies to increase residual WFS1 protein expression may be beneficial.

scholarly journals Loss of functional OPA 1 unbalances redox state: implications in dominant optic atrophy pathogenesis

2016 ◽  
Vol 3 (6) ◽  
pp. 408-421 ◽  
Author(s):  
Aurélie M. C. Millet ◽  
Ambre M. Bertholet ◽  
Marlène Daloyau ◽  
Pascal Reynier ◽  
Anne Galinier ◽  
...  
Keyword(s):  
Optic Atrophy ◽  
Redox State ◽  
Dominant Optic Atrophy

Leber's optic atrophy and “rhodanese” activity

1988 ◽  
Vol 149 (2) ◽  
pp. 110-111 ◽  
Author(s):  
Peter J. Goadsby ◽  
Ronald D. Fine
Keyword(s):  
Optic Atrophy
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