Results 41 to 50 of about 7,532,788 (147)

Diagnosis and pathogenesis of congenital X-linked retinoschisis with optical coherence tomography.

, 2010
This study shows how optical coherence tomography has been valuable in the diagnosis of congenital X-linked retinoschisis. An infant with convergent strabismus underwent serial optical coherence tomography examinations that helped to make the diagnosis ...
C. K. Patel, Sumit Dhingra
core   +1 more source

OCT as a diagnostic tool in X-linked retinoschisis [PDF]

, 2015
Spectral domain optical coherence tomography was used to image the maculae of patient who had the diagnosis of X-linked retinoschisis maculopathy. Here we present a case of 10 year old Boy with DOV in both eye and retinoschisis changes on ophthalmoscopy ...
Ulka Srivastava, Vijay Bhaisare, Preeti Rawat, Neetu Kori, Sachin Tammannavar   +4 more
core   +1 more source

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

EFFECT OF AGING ON MACULAR FEATURES OF X-LINKED RETINOSCHISIS ASSESSED WITH OPTICAL COHERENCE TOMOGRAPHY

, 2011
X-linked retinoschisis (XLRS) is one of the most common causes of macular degeneration in young men. The purpose of this study was to use optical coherence tomography combined with ophthalmoscopy to study the effects of aging on the morphologic changes ...
Menke, Marcel N, Marcel N Menke, Hirose, Tatsuo, Gilbert T Feke, Feke, Gilbert T, Tatsuo Hirose, Menke, Marcel   +6 more
core   +1 more source

Retinal detachment associated with the splice site mutation c.53-1G>A in the gene: A case report and review of the literature

SAGE Open Medical Case Reports
Retinoschisin protein is mainly produced in the retina, with minimal expression in other tissues. It is located on the surface of the photoreceptor inner segments and bipolar cells.
Jia Meng, Shanjun Cai, Gang Su
doaj   +1 more source

Case Report: Carbonic anhydrase inhibitor brinzolamide dramatically improved the morphology and also function of a patient with RS1 mutation

Frontiers in Pharmacology
X-linked retinoschisis (XLRS) is an inherited retinal disease caused by mutations in the RS1 gene, which encodes retinoschisin, a protein essential for maintaining the retinal structure during development.
Yue Ren, Yue Ren, Shu Liu, Shu Liu, Jia Rong, Di Wang, Miao Diao, Yaqi Zhang, Shimiao Tian, Mingxin Shang, Chuqiao Song, Yan Guan, Zhuoshi Wang, Zhuoshi Wang, Jijing Pang, Jijing Pang, Jijing Pang   +16 more
doaj   +1 more source

Carrier screening in the reproductive setting—Are there medical implications for the heterozygote?—A guide for clinicians

Pregnancy, Volume 2, Issue 3, May 2026.
Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld, Nicole Kasatkin, Bi Liu Yu, Milen Velinov, Justin S. Brandt, Elena Ashkinadze   +5 more
wiley   +1 more source

Acute Vitreous and Intraretinal Hemorrhage with Multifocal Subretinal Fluid in Juvenile X-Linked Retinoschisis

Case Reports in Ophthalmological Medicine, 2020
Purpose. To report a rare case of spontaneous vitreous and intraretinal hemorrhage in a patient with juvenile X-linked retinoschisis which was managed conservatively. Methods. Single patient case report. Introduction.
Sidra Ibad, Carl S. Wilkins, Alexander Pinhas, Vincent Sun, Matthew S. Wieder, Avnish Deobhakta   +5 more
doaj   +1 more source

Nanostructured drug delivery systems for posterior segment eye diseases: Strategies to defy ocular barriers

BMEMat, Volume 4, Issue 1, March 2026.
Efficient drug delivery to the posterior segment of the eye has long been a challenging issue due to the complex ocular barriers. The review focuses on the promise held by nanoplatforms for barrier penetration and the key mechanisms involved, also highlighting their advantages in achieving efficient drug delivery and superior treatment of PSEDs ...
Yifan Shen, Ying Yao, Yan Zhang, Xinyu Shi, Ling Bai, Yang Zhong, Yan Zhang, Kun Zhang   +7 more
wiley   +1 more source

Peripheral fundus findings in X-linked retinoschisis [PDF]

, 2017
BACKGROUND/AIMS: Vitreous haemorrhage (VH) and retinal detachment (RD) cause a precipitous decline in vision in a subset of patients with X-linked retinoschisis (XLRS), an otherwise a slowly progressive condition.
Michel Michaelides, Ali, N, Michaelides, M, Blachley, T, Abigail T Fahim, Fahim, AT, Naser Ali, Taylor Blachley   +7 more
core   +2 more sources