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Concept

Metamorphopsia

Publications associées (5)

Differential Dimerization of Variants Linked to Enhanced S-Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand-Binding Domain

Nicolas Jean Philippe Guex

NR2E3 encodes the photoreceptor-specific nuclear hormone receptor that acts as a repressor of cone-specific gene expression in rod photoreceptors, and as an activator of several rod-specific genes. Recessive variants located in the ligand-binding domain (L ...

Wiley-Blackwell2015

Retinal vessel oxygen saturation and its correlation with structural changes in retinitis pigmentosa

Purpose: To study the influence of retinal structural changes on oxygen saturation in retinitis pigmentosa (RP) patients. Methods: Oximetry measurements were performed on 21 eyes of 11 RP patients and compared to 24 eyes of 12 controls. Retinal oxygen satu ...

Wiley-Blackwell2014

A neuropsychological instrument measuring age-related cerebral decline in older drivers: development reliability, and validity of MedDrive

Michael Herzog, Daniela Herzig

When facing age-related cerebral decline, older adults are unequally affected by cognitive impairment without us knowing why. To explore underlying mechanisms and find possible solutions to maintain life-space mobility, there is a need for a standardized b ...

Frontiers Research Foundation2014

Pattern Dystrophy With High Intrafamilial Variability Associated With Y141C Mutation In The Peripherin/Rds Gene And Successful Treatment Of Subfoveal Cnv Related To Multifocal Pattern Type With Anti-Vegf (Ranibizumab) Intravitreal Injections

Objective: To identify disease causing mutation in three generations of a Swiss family with pattern dystrophy and high intrafamilial variability of phenotype. To assess the effect of intravitreal ranibizumab injections in the treatment of subfoveal choroid ...

Lippincott Williams & Wilkins2012

The PROM1 Mutation p. R373C Causes an Autosomal Dominant Bull's Eye Maculopathy Associated with Rod, Rod-Cone, and Macular Dystrophy

PURPOSE. To characterize in detail the phenotype of five unrelated families with autosomal dominant bull's eye maculopathy (BEM) due to the R373C mutation in the PROM1 gene. ...

2010