Results 11 to 20 of about 189,868 (219)

Artificial intelligence-quantified schisis volume as a structural endpoint for gene therapy clinical trials in X-linked retinoschisis. [PDF]

Acta Ophthalmol
To use artificial intelligence (AI) for quantifying schisis volume (ASV) in X‐linked retinoschisis (XLRS) for use as a structural endpoint in gene therapy clinical trials.
Tan TE, Dai P, Hensman J, Kiraly P, Fenner BJ, Liu Y, Goh RSM, Han IC, Ting DSW, Boon CJF, Fischer MD.   +10 more
europepmc   +3 more sources

X-Linked Retinoschisis Masquerading Uveitis. [PDF]

J Clin Med, 2023
X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to ...
Mautone L, Birtel J, Atiskova Y, Druchkiv V, Stübiger N, Spitzer MS, Dulz S.   +6 more
europepmc   +4 more sources

Morphological and Molecular Defects in Human Three-Dimensional Retinal Organoid Model of X-Linked Juvenile Retinoschisis [PDF]

Stem Cell Reports, 2019
Summary: X-linked juvenile retinoschisis (XLRS), linked to mutations in the RS1 gene, is a degenerative retinopathy with a retinal splitting phenotype. We generated human induced pluripotent stem cells (hiPSCs) from patients to study XLRS in a 3D retinal
Kang-Chieh Huang, Mong-Lien Wang, Shih-Jen Chen, Jean-Cheng Kuo, Won-Jing Wang, Phan Nguyen Nhi Nguyen, Karl J. Wahlin, Jyh-Feng Lu, Audrey A. Tran, Michael Shi, Yueh Chien, Aliaksandr A. Yarmishyn, Ping-Hsing Tsai, Tien-Chun Yang, Wann-Neng Jane, Chia-Ching Chang, Chi-Hsien Peng, Thorsten M. Schlaeger, Shih-Hwa Chiou   +18 more
doaj   +6 more sources

A retrospective longitudinal study of 52 Finnish patients with X-linked retinoschisis. [PDF]

Acta Ophthalmol
To describe clinical characteristics in Finnish patients with X‐linked retinoschisis (XLRS) longitudinally with emphasis on retinal morphology and genotype–phenotype correlations.
Järvinen MA, Baraas RC, Majander A, Backlund MP, Krootila J, Paavo M, Lindahl P, Vasara K, Sankila EM, Kivelä TT, Turunen JA.   +10 more
europepmc   +3 more sources

X-linked retinoschisis [PDF]

Indian Journal of Ophthalmology, 2020
X-linked retinoschisis (XLRS) is an inherited retinal degeneration which was first described in 1898. The disease is associated with the mutation of RS-1 gene. XLRS can lead to foveal and peripheral retinal schisis, retinal detachment, or macula atrophy, and further casue visual impairment since childhood.
Devashish Dubey, Shorya Vardhan Azad
doaj   +6 more sources

X-linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients. [PDF]

Ophthalmology, 2021
PURPOSE To describe the natural course, phenotype and genotype of patients with X-linked retinoschisis (XLRS). DESIGN Retrospective cohort study. PARTICIPANTS Three hundred forty patients with XLRS from 178 presumably unrelated families.
Leo C. Hahn, M. V. van Schooneveld, Nieneke L. Wesseling, R. Florijn, J. T. ten Brink, Birgit I. Lissenberg-Witte, Ine Strubbe, M. Meester-Smoor, A. Thiadens, R. Diederen, C. van Cauwenbergh, J. de Zaeytijd, S. Walraedt, E. de Baere, C. Klaver, J. O. Norel, L. I. van den Born, C. Hoyng, M. V. van Genderen, P. Sieving, B. Leroy, A. Bergen, C. Boon   +22 more
semanticscholar   +2 more sources

Mizuo–Nakamura phenomenon in X-linked retinoschisis [PDF]

American Journal of Ophthalmology Case Reports, 2022
Purpose: To determine whether the Mizuo–Nakamura phenomenon, which is an important diagnostic sign of Oguchi's disease, also occurs in patients with genetically proven X-linked retinoschisis (XLRS). Methods: We examined three patients with a clinical and
Kenji Wakabayashi, Yuka Sakai-Wakabayashi, Chie Ishigami   +2 more
doaj   +2 more sources

Molecular analysis of foveoschisis in females reveals a novel case of segmental uniparental disomy in X-linked retinoschisis. [PDF]

Doc Ophthalmol
Background Foveoschisis refers to the splitting of retinal layers involving the macula that may have different causes with variable structural–functional natural histories.
Elbagoury NM, Essawi ML, Fathy HM, Eid OM, Nabih M, Mohamed AM, Tawfik CA.   +6 more
europepmc   +2 more sources

Diurnal functional and anatomical changes in X-linked retinoschisis. [PDF]

Graefes Arch Clin Exp Ophthalmol, 2023
Background To investigate the changes in macular cystic schisis (MCS) and sensitivity during the day in X-linked retinoschisis (XLRS) patients. Methods Treatment-naïve patients with genetically verified XLRS underwent best-correlated visual acuity (BCVA)
Mautone L, Atiskova Y, Druchkiv V, Spitzer MS, Dulz S.   +4 more
europepmc   +2 more sources

Retinal organoids with X-linked retinoschisis RS1 (E72K) mutation exhibit a photoreceptor developmental delay and are rescued by gene augmentation therapy. [PDF]

Stem Cell Res Ther
X-linked juvenile retinoschisis (XLRS) is an inherited disease caused by RS1 gene mutation, which leads to retinal splitting and visual impairment. The mechanism of RS1-associated retinal degeneration is not fully understood.
Duan C, Ding C, Sun X, Mao S, Liang Y, Liu X, Ding X, Chen J, Tang S.   +8 more
europepmc   +2 more sources