Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
[HTML][HTML] Non-syndromic retinitis pigmentosa
SK Verbakel, RAC van Huet, CJF Boon… - Progress in retinal and …, 2018 - Elsevier
Retinitis pigmentosa (RP) encompasses a group of inherited retinal dystrophies
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …
characterized by the primary degeneration of rod and cone photoreceptors. RP is a leading …
ISCEV Standard for full-field clinical electroretinography (2022 update)
The full-field electroretinogram (ERG) is a mass electrophysiological response to diffuse
flashes of light and is used widely to assess generalized retinal function. This document …
flashes of light and is used widely to assess generalized retinal function. This document …
ISCEV standard for clinical visual evoked potentials:(2016 update)
Visual evoked potentials (VEPs) can provide important diagnostic information regarding the
functional integrity of the visual system. This document updates the ISCEV standard for …
functional integrity of the visual system. This document updates the ISCEV standard for …
ISCEV guide to visual electrodiagnostic procedures
Clinical electrophysiological testing of the visual system incorporates a range of noninvasive
tests and provides an objective indication of function relating to different locations and cell …
tests and provides an objective indication of function relating to different locations and cell …
ISCEV standard for clinical multifocal electroretinography (mfERG)(2021 update)
The multifocal electroretinogram (mfERG) is an electrophysiological test that allows the
function of multiple discrete areas of the retina to be tested simultaneously. This document …
function of multiple discrete areas of the retina to be tested simultaneously. This document …
Retinal AAV8-RS1 gene therapy for X-linked retinoschisis: initial findings from a phase I/IIa trial by intravitreal delivery
This study evaluated the safety and tolerability of ocular RS1 adeno-associated virus (AAV8-
RS1) gene augmentation therapy to the retina of participants with X-linked retinoschisis …
RS1) gene augmentation therapy to the retina of participants with X-linked retinoschisis …
[HTML][HTML] The X-linked retinopathies: physiological insights, pathogenic mechanisms, phenotypic features and novel therapies
X-linked retinopathies represent a significant proportion of monogenic retinal disease. They
include progressive and stationary conditions, with and without syndromic features. Many …
include progressive and stationary conditions, with and without syndromic features. Many …
Standards in pupillography
C Kelbsch, T Strasser, Y Chen, B Feigl… - Frontiers in …, 2019 - frontiersin.org
The number of research groups studying the pupil is increasing, as is the number of
publications. Consequently, new standards in pupillography are needed to formalize the …
publications. Consequently, new standards in pupillography are needed to formalize the …
Clinically focused molecular investigation of 1000 consecutive families with inherited retinal disease
Purpose To devise a comprehensive multiplatform genetic testing strategy for inherited
retinal disease and to describe its performance in 1000 consecutive families seen by a …
retinal disease and to describe its performance in 1000 consecutive families seen by a …