Results 21 to 30 of about 189,868 (219)

An osmolarity dependent mechanism partially ameliorates retinal cysts and rescues cone function in a mouse model of X-linked retinoschisis. [PDF]

Front Med (Lausanne), 2023
Introduction X-linked retinoschisis (XLRS) is a vitreoretinal dystrophy caused by RS1 gene mutations which disrupt retinoschisin protein function. A vital protein for maintaining retinal architecture, the absence of functional retinoschisin leads to the ...
Gehrke EJ, Thompson J, Kalmanek E, Stanley ST, Laird J, Bhattarai S, Lobeck B, Mayer S, Mahoney A, Hassan S, Hsu Y, Drack A.   +11 more
europepmc   +2 more sources

Management of angle-closure glaucoma with X-linked retinoschisis: a case report. [PDF]

BMC Ophthalmol, 2023
Background X-linked retinoschisis (XLRS), due to mutations in the RS1 gene, is a common genetically determined form of macular degeneration. This report describes an unusual case of angle-closure glaucoma (ACG) with XLRS and discusses the treatment. Case
Li Y, Li J, Pan X, Zhang Z, Zheng Y.
europepmc   +2 more sources

Presumed X-Linked Retinoschisis in a 3-Month-Old Baby Girl: A Case Report. [PDF]

Case Rep Ophthalmol Med
The purpose of the study is to report a 3‐month‐old Iranian baby girl presenting with bilateral macular and peripheral retinoschisis with a probable diagnosis of X‐linked retinoschisis (XLRS).
Fakhredin H, Asadi Khameneh E, Faghihi S, Mehrabi Bahar M, Bazvand F.   +4 more
europepmc   +2 more sources

Identifying Multiomic Signatures of X-Linked Retinoschisis-Derived Retinal Organoids and Mice Harboring Patient-Specific Mutation Using Spatiotemporal Single-Cell Transcriptomics. [PDF]

Adv Sci (Weinh)
X‐linked retinoschisis (XLRS) is an inherited retinal disorder with severe retinoschisis and visual impairments. Multiomics approaches integrate single‐cell RNA‐sequencing (scRNA‐seq) and spatiotemporal transcriptomics (ST) offering potential for ...
Chien Y, Wu YR, Chen CY, Yang YP, Ching LJ, Wang BX, Chang WC, Chiang IH, Su P, Chen SY, Lin WC, Wang IC, Lin TC, Chen SJ, Chiou SH.   +14 more
europepmc   +2 more sources

Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator. [PDF]

Invest Ophthalmol Vis Sci
Purpose This study investigated a three-dimensional indicator in spectral-domain optical coherence tomography (SD-OCT) and established phenotype-genotype correlation in X-linked retinoschisis (XLRS).
Wei X, Li H, Zhu T, Sun Z, Sui R.
europepmc   +2 more sources

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation. [PDF]

Genes (Basel), 2023
X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease.
Kirkby J, Halford S, Shanks M, Moore A, Gait A, Jenkins L, Clouston P, Patel CK, Downes SM.   +8 more
europepmc   +2 more sources

Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.

Molecular Therapy, 2018
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 (XLRS).
C. Cukras, H. Wiley, B. Jeffrey, H. Sen, Amy E Turriff, Yong Zeng, C. Vijayasarathy, D. Marangoni, L. Ziccardi, S. Kjellstrom, T. K. Park, S. Hiriyanna, J. F. Wright, P. Colosi, Zhijian Wu, R. Bush, L. Wei, P. Sieving   +17 more
semanticscholar   +3 more sources

Long-term results of conservative and surgical treatment of congenital x-linked retinoschisis: A retrospective multicentre international study. [PDF]

Acta Ophthalmol
PURPOSE To evaluate the demographic and clinical characteristics, treatment indications, long-term outcomes and prognostic factors in patients with congenital x-linked retinoschisis (CXLR) managed conservatively or surgically.
Özdek Ş, Özdemir HB, Bhende M, Bhende P, Sen P, Ratra D, Dasgupta D, Hartnett ME, Simonett JM, Shah PK, Das A, Kusaka S, Ferrone PJ, Lee J, Rosenblatt B, Rhee D, Shakin E, Matsushita I, Othman IS, Ahmed A, Teke MY, Dülger SÇ, Avcı R, Parolini B, Wu WC, Nawrocka ZA, Nawrocka Z, Nawrocki J, El Rayes E, Gürelik G, Ghazi N.   +30 more
europepmc   +2 more sources

X-Linked Retinoschisis [PDF]

Ophthalmology, 2022
Michalis Georgiou, Lucia Finocchio, Kaoru Fujinami, Yu Fujinami-Yokokawa, Gianni Virgili, Omar A. Mahroo, Andrew R. Webster, Michel Michaelides   +7 more
exaly   +6 more sources

Genotypic and phenotypic diversity in X-linked retinoschisis: Findings from a South Indian patient cohort [PDF]

Indian Journal of Ophthalmology
Purpose: Retinoschisis is a distinctive condition characterized by intraretinal layer clefts, primarily associated with X-linked recessive inheritance due to RS1 gene mutations.
Susmita Chowdhury, Prakash Chermakani, Girish Baliga, Rupa Anjanamurthy, Periasamy Sundaresan   +4 more
doaj   +2 more sources