[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 …
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …
population and children. The scope of this review is to familiarise clinicians and scientists …
[HTML][HTML] X-linked retinoschisis: novel clinical observations and genetic spectrum in 340 patients
LC Hahn, MJ van Schooneveld, NL Wesseling… - Ophthalmology, 2022 - Elsevier
Purpose To describe the natural course, phenotype, and genotype of patients with X-linked
retinoschisis (XLRS). Design Retrospective cohort study. Participants Three hundred forty …
retinoschisis (XLRS). Design Retrospective cohort study. Participants Three hundred forty …
X-linked retinoschisis
CA Ku, LW Wei, PA Sieving - Cold Spring …, 2023 - perspectivesinmedicine.cshlp.org
X-linked retinoschisis (XLRS) is an inherited vitreoretinal dystrophy causing visual
impairment in males starting at a young age with an estimated prevalence of 1: 5000 to 1 …
impairment in males starting at a young age with an estimated prevalence of 1: 5000 to 1 …
[HTML][HTML] X-linked retinoschisis: deep phenotyping and genetic characterization
M Georgiou, L Finocchio, K Fujinami… - Ophthalmology, 2022 - Elsevier
Purpose To examine the genetic and clinical features in children and adults with X-linked
retinoschisis (XLRS). Design Single-center consecutive, retrospective, observational study …
retinoschisis (XLRS). Design Single-center consecutive, retrospective, observational study …
[HTML][HTML] Deep phenotyping of PDE6C-associated achromatopsia
Purpose: To perform deep phenotyping of subjects with PDE6C achromatopsia and
examine disease natural history. Methods: Eight subjects with disease-causing variants in …
examine disease natural history. Methods: Eight subjects with disease-causing variants in …
Negative electroretinograms: genetic and acquired causes, diagnostic approaches and physiological insights
X Jiang, OA Mahroo - Eye, 2021 - nature.com
The dark-adapted human electroretinogram (ERG) response to a standard bright flash
includes a negative-going a-wave followed by a positive-going b-wave that crosses the …
includes a negative-going a-wave followed by a positive-going b-wave that crosses the …
ISCEV extended protocol for the photopic On–Off ERG
Abstract The International Society for Clinical Electrophysiology of Vision (ISCEV) standard
for full-field electroretinography (ERG) describes a minimum procedure, but encourages …
for full-field electroretinography (ERG) describes a minimum procedure, but encourages …
Of men and mice: human X-linked retinoschisis and fidelity in mouse modeling
C Vijayasarathy, SPBS Pasha, PA Sieving - Progress in Retinal and Eye …, 2022 - Elsevier
X-linked Retinoschisis (XLRS) is an early-onset transretinal dystrophy, often with a
prominent macular component, that affects males and generally spares heterozygous …
prominent macular component, that affects males and generally spares heterozygous …
[HTML][HTML] The phenotypic variability of retinal dystrophies associated with mutations in CRX, with report of a novel macular dystrophy phenotype
Purpose.: To present a detailed phenotypic and molecular study of a series of 18 patients
from 11 families with retinal dystrophies consequent on mutations in the cone–rod …
from 11 families with retinal dystrophies consequent on mutations in the cone–rod …