Publications by authors named "Serge Sancho"
Article Synopsis
- Reliable biomarkers are essential for gene therapy trials in spinocerebellar ataxias, particularly SCA7 patients.
- The study, conducted in Paris, examined ophthalmological characteristics in 15 SCA7 carriers to explore the relationship between eye health and disease severity.
- Results showed a significant correlation between CAG repeat lengths, disease severity, and various eye conditions, with many participants exhibiting cone or cone-rod dystrophy related to their ataxia scores.
Inherited retinal diseases (IRD) are a group of heterogeneous disorders, most of which lead to blindness with limited therapeutic options. Pathogenic variants in RBP4, coding for a major blood carrier of retinol, retinol-binding protein 4, are responsible for a peculiar form of IRD. The aim of this study was to investigate if retinal function of an RBP4-related IRD patient can be improved by retinol administration.
View Article and Find Full Text PDFThirty-eight patients from 37 families with retinitis pigmentosa (RP) underwent macular 6 × 6-mm swept-source optical coherence tomography angiography (SS-OCTA) and 30° near-infrared fundus autofluorescence (NIR-FAF) acquisitions in one eye. Superficial vascular complex (SVC), deep capillary complex (DCC) and choriocapillaris (CC) angiograms were registered with NIR-FAF acquisitions to comparatively assess subjects with and without central area of preserved NIR-FAF (APA). On the subset of patients showing an APA, the vessel densities for SVC and DCC and flow deficits for CC were assessed in three directions (superior, inferior and temporal) from the fovea and compared to healthy 1:1 age-matched controls.
View Article and Find Full Text PDFIntroduction: Retinitis pigmentosa (RP) is an inherited retinal disorder, characterized by photoreceptor degeneration inducing progressive vision loss. This study evaluates its impact on quality of life (QOL) and emotional states of patients affected by RP.
Methods: A cross-sectional study was conducted on 60 RP patients diagnosed with rod-cone dystrophy and on 20 control subjects.