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Advancing Insights into Pediatric Macular Diseases: A Comprehensive Review.
J Clin Med
January 2025
Department of Ophthalmology, Boston Children's Hospital, Boston, MA 02115, USA.
Pediatric macular disorders are a diverse group of inherited retinal diseases characterized by central vision loss due to dysfunction and degeneration of the macula, the region of the retina responsible for high-acuity vision. Common disorders in this category include Stargardt disease, Best vitelliform macular dystrophy, and X-linked retinoschisis. These conditions often manifest during childhood or adolescence, with symptoms such as progressive central vision loss, photophobia, and difficulty with fine visual tasks.
View Article and Find Full Text PDFThe D126G mutation contributes to the early-onset X-linked juvenile retinoschisis.
Sci Rep
January 2025
Department of Ophthalmology, Faculty of Medicine Siriraj Hospital, Mahidol University, 2 Wanglang Road, Bangkok Noi, Bangkok, 10700, Thailand.
X-linked juvenile retinoschisis (XLRS) is an inherited retinal disease caused by mutations in the RS1 gene, resulting in splitting of the retinal layers and visual disturbances. To provide insights on this disease in our cohort, genetic examination, clinical presentation, and functional analysis were performed. We observed three main RS1 mutations in our cohort of six unrelated patients: RS1-D126G, RS1-R209H, and RS1-R213W.
View Article and Find Full Text PDFEditorial: X-linked retinoschisis: mechanisms and therapies.
Front Med (Lausanne)
December 2024
Department of Ophthalmology and Visual Sciences, The University of Iowa, Iowa City, IA, United States.
Review: Clinical findings and genetic characterization of children affected with X-linked retinoschisis in the Spanish population.
Eur J Ophthalmol
December 2024
Ophthalmology Department, Hospital Universitario La Paz, Madrid, Spain.
X-linked retinoschisis (XLRS) is an inherited retinal disorder due to mutations in retinoschisin 1, characterized by impaired central vision secondary to parafoveal cystic cavities and visual field loss by splitting through the retinal nerve fibre layer in the peripheral retina. It is the leading cause of juvenile macular degeneration in males, and currently there is no approved treatment but carbonic anhydrase inhibitors can be used. A retrospective review of the medical records of 17 children with confirmed XLRS seen in the Paediatric Ophthalmology Department of La Paz University Hospital from the 1st of January 2009 to the 1st of June of 2023 was conducted.
View Article and Find Full Text PDFAn osmolarity dependent mechanism partially ameliorates retinal cysts and rescues cone function in a mouse model of X-linked retinoschisis.
Front Med (Lausanne)
October 2024
Department of Ophthalmology and Visual Sciences, Institute for Vision Research, University of Iowa, Iowa City, IA, United States.
Introduction: X-linked retinoschisis (XLRS) is a vitreoretinal dystrophy caused by gene mutations which disrupt retinoschisin-1 (RS1) function. Vital for retinal architecture, the absence of functional RS1 leads to the development of intraretinal cysts. Intravitreal injection of a gene therapy for treating XLRS caused ocular inflammation in high dose groups in a phase I/II clinical trial.
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