Fluorescein Angiography in Optic Atrophy

2015 ◽  
pp. 573-577
Author(s):  
J. E. K. Galbraith
2019 ◽  
Vol 2 ◽  
pp. 1 ◽  
Author(s):  
Anibal Martin Folgar ◽  
Jorge Oscar Zarate

We present a 57-year-old referred reduced visual acuity who was in treatment with paclitaxel for developing metastatic breast adenocarcinoma. Ophthalmoscopic examination, optical coherence tomography, and autofluorescence show the cystoid macular edema, but fluorescein angiography is normal, without leakage of dye in the late times. The patient responds well 8 weeks after stopping antineoplastic. Paclitaxel can cause cystoid macular edema and lifting a recovery both anatomical and functional of the macula.


2020 ◽  
Vol 84 (1) ◽  
pp. 35-39
Author(s):  
K. Iegorova ◽  
◽  
M. Znamenska ◽  
M. Guk ◽  
A. Mumliev ◽  
...  

2012 ◽  
Vol 26 (4) ◽  
pp. 255-257 ◽  
Author(s):  
Jennifer L. Hurley-Sanders ◽  
Karl F. Bowman ◽  
Barbara A. Wolfe ◽  
Felicia B. Nutter ◽  
Kurt K. Sladky ◽  
...  

2021 ◽  
pp. jmedgenet-2020-107257
Author(s):  
Kun Hu ◽  
Malgorzata Zatyka ◽  
Dewi Astuti ◽  
Nicola Beer ◽  
Renuka P Dias ◽  
...  

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.


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