Artificial Intelligence-Assisted Early Detection of Retinitis Pigmentosa - the Most Common Inherited Retinal Degeneration. [PDF]
Chen TC +10 more
europepmc +1 more source
In a cross‐sectional cohort of 104 participants, 7 T susceptibility separation MRI and diffusion imaging were combined with retinal imaging and visual evoked potentials to characterize visual pathway involvement in adrenomyeloneuropathy (AMN). Absolute diamagnetic susceptibility, a myelin‐associated measure, and fractional anisotropy (FA) showed ...
Ronghao Li +17 more
wiley +1 more source
Oxidative DNA damage drives apoptotic photoreceptor loss in NMNAT1-associated inherited retinal degeneration: a therapeutic opportunity. [PDF]
Zhang H +3 more
europepmc +1 more source
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration. [PDF]
Ma DJ +8 more
europepmc +1 more source
ABSTRACT Introduction Direct experimental investigation of Klinefelter syndrome (KS) in patients is limited because the syndrome manifests heterogeneously and affects multiple organ systems. Studying KS therefore requires a model that captures this complexity as accurately as possible while still permitting controlled experimental manipulation ...
Fariba Saadati, Joachim Wistuba
wiley +1 more source
Identification and validation of a novel ferroptosis-related gene signature associated with inherited retinal degeneration in Rd10 mice. [PDF]
Qiu X +11 more
europepmc +1 more source
Gene Therapy Approaches to Slow or Reverse Blindness From Inherited Retinal Degeneration: Growth Factors and Optogenetics. [PDF]
Van Gelder RN.
europepmc +1 more source
Abstract Purpose To measure the progression of geographic atrophy (GA) in subjects with age‐related macular degeneration (AMD) in a natural history study. Methods We analysed fundus autofluorescence (FAF) images using a semiautomatic method (RegionFinder) to quantify the GA area in a monocentric study.
Philippe Valmaggia +17 more
wiley +1 more source
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight. [PDF]
Huang YS +11 more
europepmc +1 more source
The impacts of high refractive errors on self‐reported visual function and visual concern
Abstract Purpose To examine the association between refractive errors and self‐reported visual function and visual concern, considering self‐perceived present eyesight, concerns about vision, accomplishing less and limitations in daily activities in an eye‐healthy cohort.
Jens Riis Møller +9 more
wiley +1 more source

