Results 51 to 60 of about 7,532,788 (147)

Investigating the Role of Zebrafish Retinoschisin Homologs Rs1a and Rs1b During Retinal Development

Developmental Neurobiology, Volume 86, Issue 1, January 2026.
ABSTRACT Deficiency in the retinoschisin protein (RS1) causes X‐linked juvenile retinoschisis (XLRS), a retinal degenerative disease that disrupts retinal layers and forms cystic cavities. In addition to its structural function, RS1 is believed to play a role in retinal development.
Isa van der Veen, Céline Koster, Jacoline B. Ten Brink, Maarten Kamermans, Camiel J. F. Boon   +4 more
wiley   +1 more source

Cog-Wheel Octameric Structure of RS1, the Discoidin Domain Containing Retinal Protein Associated with X-Linked Retinoschisis. [PDF]

PLoS ONE, 2016
RS1, also known as retinoschisin, is a disulphide-linked, discoidin domain containing homo-oligomeric protein that plays a crucial role in maintaining the cellular and synaptic organization of the retina.
Martin Bush, Dheva Setiaputra, Calvin K Yip, Robert S Molday   +3 more
doaj   +1 more source

Case report: Autosomal recessive bestrophinopathy with macular cysts and MNV over 13-year follow-up

Frontiers in Genetics, 2022
Purpose: To describe the phenotype and genotype of a patient with autosomal recessive bestrophinopathy (ARB) over a 13-year follow-up period.Methods: The phenotype of the subject was described after a complete ophthalmological examination, which included
Lei Zhang, Hai-Yan Wang, Wei Jia, Ru Wang, Yu-Sheng Wang, Yang-Yang Cui   +5 more
doaj   +1 more source

Expanding the Genotypic Landscape of Congenital Stationary Night Blindness in an Ethnically Diverse Canadian Population

Human Mutation, Volume 2026, Issue 1, 2026.
Congenital stationary night blindness (CSNB) is a rare and typically nonprogressive group of genetically heterogeneous disorders resulting in impaired night vision and high myopia with varying levels of visual impairment. Despite being a rare disease with a prevalence of 1:294,000, variants in 22 genes have been associated with specific CSNB phenotypes.
Jennifer Ling, Mustansir Pindwarawala, Cheryl Y. Gregory-Evans, Mathew Kirby, Kevin Gregory-Evans, Meng-Che Tsai   +5 more
wiley   +1 more source

X-linked peripheral retinoschisis without macular involvement: a case series with RS1 genetic confirmation

, 2020
Background: Juvenile X-linked Retinoschisis (JXLRS) is a hereditary retinopathy that commonly presents with macular retinoschisis. In this study, we describe a group of patients who presented with peripheral retinoschisis with no macular schisis ...
Cernichiaro-Espinosa, Linda A, Lam, Byron L, Tekin, Mustafa, Smith, Logan M, Russell, Jonathan F, Berrocal, Audina M, Chiang, John, McKeown, Craig A   +7 more
core   +1 more source

X-linked retinoschisis: a clinical and molecular genetic review.

, 2004
X-linked retinoschisis is a leading cause of macular degeneration in male children. It is characterized by a high degree of clinical variability. Clinical features include a stellate foveal retinoschisis, with or without peripheral retinoschisis.
Tantri, Avinash, Cu-Unjieng, Andrew, Annesley, William H, Donoso, Larry A, Vrabec, Tamara R, Frost, Arcilee   +5 more
core   +1 more source

Juvenile X-Linked retinoschisis: Response to topical dorzolamide therapy

TNOA Journal of Ophthalmic Science and Research, 2018
We report clinical course of a 22-year-old Indian male patient presenting with bilateral Juvenile X-linked retinoschisis (JXLRS) in response to topical 2% dorzolamide hydrochloride treatment.
Krati Gupta, Dipankar Das, Harsha Bhattacharjee, Hemalata Deka, Damaris Magdalene, Saurabh Deshmukh   +5 more
doaj   +1 more source

Multilevel Genetic and Functional Assessment of an ARR3 Frameshift Variant in Early‐Onset High Myopia

International Journal of Genomics, Volume 2026, Issue 1, 2026.
Background Early‐onset high myopia (eoHM) is a highly heritable ocular disorder, with pathogenic variants in the X‐linked ARR3 gene (which encodes cone arrestin) being associated with a female‐limited form of eoHM. However, the clinical manifestations of early truncating variants in ARR3 and their potential impact on the classic sex‐limited pattern ...
Yadi Li, Fengwu Teng, Qin Zhu, Shulan Cui, Wenfu Yang, Pengcheng Ma, Neetu Rawal   +6 more
wiley   +1 more source

Retinal Detachment in a Combined Case of Stickler Syndrome and X-Linked Retinoschisis

, 2017
A 12-year-old boy presented with a total rhegmatogenous retinal detachment and a giant retinal tear in the right eye. Clinical examination, optical coherence tomography, and fundus images showed an optically empty vitreous, lattice degeneration, and ...
Mehta, Neesurg S, Audina M. Berrocal, McClellan, Andrew J, Read, Sarah P, Sarah P. Read, Berrocal, Audina M, Neesurg S. Mehta, Yannuzzi, Nicolas A, Nicolas A. Yannuzzi, Andrew J. McClellan, Ryan Young, Young, Ryan   +11 more
core   +1 more source

Uso da dorzolamida tópica em paciente portador de retinosquise juvenil ligada ao X Use of topical dorzolamide in patient with X-linked juvenile retinoschisis

Revista Brasileira de Oftalmologia, 2010
A retinosquise juvenil ligada ao cromossomo X é uma degeneração vítreorretiniana hereditária e recessiva. Sua manifestação ocular é a maculopatia cística bilateral e a delaminação das camadas de fibras nervosas da retina.
Luiza Müller Caye, Pierre Horta Barbosa, Karin Linck Scheid, Isabel Habeyche Cardoso, João Borges Fortes Filho   +4 more
doaj   +1 more source