[HTML][HTML] Non-vasogenic cystoid maculopathies

A Gaudric, I Audo, C Vignal, A Couturier… - Progress in Retinal and …, 2022 - Elsevier
Besides cystoid macular edema due to a blood-retinal barrier breakdown, another type of
macular cystoid spaces referred to as non-vasogenic cystoid maculopathies (NVCM) may be …

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 …

[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 …

Typical and atypical clinical presentations of X-Linked retinoschisis: A case series and literature review

T Wakabayashi, E Chang, E Nudleman… - Survey of …, 2023 - Elsevier
X-linked retinoschisis (XLRS) is an X-linked inherited retinal dystrophy characterized by mild-
to-severe visual impairment, splitting of the retinal layers, and a reduction in the dark …

[HTML][HTML] Targeted expression of retinoschisin by retinal bipolar cells in XLRS promotes resolution of retinoschisis cysts sans RS1 from photoreceptors

C Vijayasarathy, Y Zeng, D Marangoni… - … & visual science, 2022 - jov.arvojournals.org
Purpose: Loss of retinoschisin (RS1) function underlies X-linked retinoschisis (XLRS)
pathology. In the retina, both photoreceptor inner segments and bipolar cells express RS1 …

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X‐linked juvenile retinoschisis in China

FJ Gao, JH Dong, DD Wang, F Chen… - Acta …, 2021 - Wiley Online Library
Purpose To provides the clinical and genetic characteristics of a series of Chinese patients
with X‐linked juvenile retinoschisis (XLRS) through multimodal imaging and next …

Symptomatic early-onset X-linked retinoschisis: clinical presentation and outcomes

G Piquin, Y Abdelmassih, G Martin, C Edelson, F Metge… - Retina, 2023 - journals.lww.com
Purpose: To describe clinical characteristics and outcomes of children with early-onset X-
linked retinoschisis. Methods: In this retrospective consecutive case series, we included …

“There are hills and valleys”: experiences of parenting a son with X-linked retinoschisis

A Turriff, R Nolen, C D'Amanda, B Biesecker… - American journal of …, 2020 - Elsevier
Purpose To explore the experiences of parents of sons with X-linked retinoschisis (XLRS).
Design Mixed methods—qualitative interviews with quantitative survey. Methods Parents of …

Retinal proteomic alterations and combined transcriptomic-proteomic analysis in the early stages of progression of a mouse model of X-linked retinoschisis

X Jin, X Zhang, J Liu, W Wang, M Liu, L Yang, G Liu… - Cells, 2022 - mdpi.com
X-linked retinoschisis (XLRS) is among the most commonly inherited degenerative
retinopathies. XLRS is caused by functional impairment of RS1. However, the molecular …

The Role of the Ophthalmic Genetics Multidisciplinary Team in the Management of Inherited Retinal Degenerations—A Case-Based Review

MP Conway, KAJ Stephenson, J Zhu, A Dockery… - Life, 2024 - mdpi.com
(1) Background: Inherited retinal degenertions are rare conditions which may have a
dramatic impact on the daily life of those affected and how they interact with their …