Müller glia provide essential tensile strength to the developing retina. [PDF]
, 2015 This is the final version of the article. It first appeared from the Rockefeller University Press via http://dx.doi.org/10.1083/jcb.201503115To investigate the cellular basis of tissue integrity in a vertebrate central nervous system (CNS) tissue, we ...
Allen +61 more
core +6 more sources
Rett Syndrome: Revised diagnostic criteria and nomenclature [PDF]
, 2010 Objective: Rett syndrome (RTT) is a severe neurodevelopmental disease that affects approximately 1 in 10,000 live female births and is often caused by mutations in Methyl-CpG-binding protein 2 (MECP2). Despite distinct clinical features, the accumulation
Amir +24 more
core +1 more source
Genetic testing for X-linked juvenile retinoschisis
The EuroBiotech Journal, 2017 We studied the scientific literature and disease guidelines in order to summarize the clinical utility of genetic testing for X-linked juvenile retinoschisis (XJR). The disease has X-linked inheritance, a prevalence that varies from one in 5000 to one in
Abeshi Andi +5 more
doaj +1 more source
Singleton birth after preimplantation genetic diagnosis for Huntington disease using whole genome amplification [PDF]
, 2009 Objective: To report a successful case of preimplantation genetic diagnosis (PGD) for Huntington disease using whole genome amplification. Design: Case report. Setting: University assisted reproduction unit.
Chow, JFC +6 more
core +1 more source
Juvenile X-linked retinoschisis responsive to intravitreal corticosteroids
American Journal of Ophthalmology Case Reports, 2017 Purpose: To report the case of an adult male with X-linked retinoschisis (XLRS) who presented with cystoid macular edema (CME) that responded consistently to treatment with intravitreal steroids.
Waseem H. Ansari +2 more
doaj +1 more source
Case Reports in Ophthalmology, 2020 This is the first reported case of a successful resolution of cystic-like foveal cavities in eyes with X-linked juvenile retinoschisis (XLRS) treated with topical ripasudil hydrochloride hydrate, a Rho-associated coiled/coil-containing protein kinase ...
Hitomi Suimon +3 more
doaj +1 more source
Suprachoroidal and Subretinal Injections of AAV Using Transscleral Microneedles for Retinal Gene Delivery in Nonhuman Primates. [PDF]
, 2020 Retinal gene therapy using adeno-associated viruses (AAVs) is constrained by the mode of viral vector delivery. Intravitreal AAV injections are impeded by the internal limiting membrane barrier, while subretinal injections require invasive surgery and ...
Chung, Sook Hyun +7 more
core
Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation [PDF]
, 2006 Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene have been identified in patients with Rett syndrome, West syndrome, and X-linked infantile spasms sharing the common features of generally intractable early seizures and mental ...
Badaracco G. +8 more
core +1 more source
Clinical observations of vitreoretinal surgery for four different phenotypes of X-linked congenital retinoschisis [PDF]
International Journal of Ophthalmology, 2018 AIM: To evaluate the outcomes of vitreoretinal surgery for four different phenotypes of X-linked retinoschisis (XLRS). METHODS: This study included thirty-one eyes of 25 patients who developed XLRS with severe complications.
Chen Zhao +3 more
doaj +1 more source
Wide-Field Fluorescein Angiography Findings in Pediatric Patients with X-Linked Retinoschisis.
Ophthalmology Retina, 2023 PURPOSE To evaluate the retinal vasculature in pediatric patients with X-linked retinoschisis (XLRS) DESIGN: Retrospective consecutive case series SUBJECTS: Pediatric patients with a diagnosis of XLRS who had undergone wide-field fluorescein angiography (
Hasenin Al-khersan +6 more
semanticscholar +1 more source