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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 PDFChildhood Myopic Foveoschisis in LRPAP1-associated Myopia.
Middle East Afr J Ophthalmol
October 2024
Vitreoretinal Division, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
This case reports the development of foveoschisis in a child with high myopia due to a homozygous LRPAP1 pathogenic variant. A 9-year-old girl with high myopia due to a homozygous mutation in the LRPAP1 gene and a history of retinal detachment repair in her right eye, presented on follow-up with progressive myopic foveoschisis in the left eye noted on optical coherence tomography. The schitic changes evolved into a lamellar macular hole and required vitrectomy.
View Article and Find Full Text PDFAland Island Eye Disease with Retinoschisis in the Clinical Spectrum of -Associated Retinopathy-A Case Report.
Int J Mol Sci
March 2024
Department of Ophthalmology, Faculty of Medical Sciences in Katowice, Medical University of Silesia, 40-514 Katowice, Poland.
Article Synopsis
- * A case study presents a 57-year-old man with a history of eye issues, which were also observed in his grandson, detailing symptoms like nystagmus and low visual acuity, along with findings from various eye examinations.
- * Genetic testing revealed a specific mutation contributing to the patient's condition, suggesting that additional unidentified factors may influence the variability of symptoms observed in AIED and related disorders, pointing to a complex
Early recurrence of macular schisis in X-linked retinoschisis treated with vitrectomy for rhegmatogenous retinal detachment under silicone oil: case report and brief literature review.
Ther Adv Ophthalmol
February 2024
Ines and Fredrick Yeatts Retinal Research Laboratory, Retina Service, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
X-linked retinoschisis (XLRS) is an inherited retinal degeneration affecting males, characterized by splitting of the retinal layers. We herein present the outcomes of surgical treatment in a case of XLRS complicated by rhegmatogenous retinal detachment (RRD). A 22-year-old male presented to the emergency department due to decreased visual acuity and visual field defect in his left eye Oculus Sinister (OS) of 1 week duration.
View Article and Find Full Text PDFGeneration of a gene-corrected isogenic iPSC cell line from an X-linked retinoschisis patient with a hemizygous mutation c.304C > T (p.R102W) in RS1 gene.
Stem Cell Res
December 2023
Aier Eye Institute, Changsha, Hunan, China; Changsha Aier Eye Hospital, Changsha, Hunan, China. Electronic address:
X-linked retinoschisis (XLRS) is one of the most common retinal genetic diseases with progressive visual impairment in childhood affecting males. It is manifested with macular and/or peripheral schisis in neural retinas with no effective treatment. Previously, we successfully generated a human-induced pluripotent stem cell (iPSC) line from an XLRS patient carrying the hemizygous RS1 c.
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