Phenotypic Characteristics of a French Cohort of Patients with X-Linked Retinoschisis.
Sign Up to like & getrecommendations! Published in 2018 at "Ophthalmology"
DOI: 10.1016/j.ophtha.2018.03.057
Abstract: PURPOSE To analyze the retinal structure in patients with X-linked retinoschisis (XLRS) using spectral-domain OCT and to correlate the morphologic findings with visual acuity, electroretinographic results, and patient age. DESIGN Retrospective, observational study. PARTICIPANTS Data… read more here.
Keywords: acuity; patients linked; age; linked retinoschisis ... See more keywords
A patient with X-linked retinoschisis and exudative retinal detachment associated with a pathogenic hemizygous variant c.304c>T in RS1
Sign Up to like & getrecommendations! Published in 2022 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2022.2154809
Abstract: ABSTRACT Background X-linked retinoschisis (XLRS) is a rare retinal dystrophy due to pathogenic variants in the RS1 gene. The hallmark of the disease is a foveal spoke-wheel appearance. The purpose of this report is to… read more here.
Keywords: xlrs; retinal detachment; linked retinoschisis; patient ... See more keywords
MACULAR MICROVASCULATURE IN X-LINKED RETINOSCHISIS
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DOI: 10.1097/iae.0000000000003539
Abstract: Supplemental Digital Content is Available in the Text. This study demonstrates important vascular and structural changes in eyes of X-linked retinoschisis patients affecting their visual outcome, with structural deterioration of the photoreceptor layer, best reflecting… read more here.
Keywords: photoreceptor layer; photoreceptor; linked retinoschisis; foveal ... See more keywords
TOPICAL CARBONIC ANHYDRASE INHIBITORS IN THE LONG-TERM TREATMENT OF JUVENILE X-LINKED RETINOSCHISIS
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DOI: 10.1097/iae.0000000000003588
Abstract: This retrospective study of 18 eyes in 10 patients with X-linked retinoschisis treated with topical dorzolamide over a mean follow-up of 8.38 years demonstrated significant improvement in visual acuity and nonstatistically significant reduction in macular… read more here.
Keywords: topical carbonic; topical dorzolamide; linked retinoschisis; juvenile linked ... See more keywords
Unusual presentation of early-onset X-linked retinoschisis: Report after 1 year of multimodal follow-up
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DOI: 10.1177/1120672120916722
Abstract: Purpose: To describe the unusual presentation, diagnosis, and clinical course of an early-onset X-linked infantile retinoschisis Case report: A 6-month-old infant presented with strabismus and poor fixation. After the detection of bilateral intraretinal hemorrhage and… read more here.
Keywords: early onset; retinoschisis; linked retinoschisis; onset linked ... See more keywords
Investigation of Correlations Between Optical Coherence Tomography Biomarkers and Visual Acuity in X-Linked Retinoschisis
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DOI: 10.3389/fmed.2021.734888
Abstract: Purpose To investigate the imaging biomarkers of spectral-domain optical coherence tomography (SD-OCT) and their correlations with age and best-corrected visual acuity (BCVA) in patients with X-linked retinoschisis (XLRS). Methods OCT images of 72 eyes of… read more here.
Keywords: retinoschisis; coherence tomography; visual acuity; linked retinoschisis ... See more keywords
Molecular characterization of a rare phenotype of X-linked retinoschisis with angle-closure glaucoma
Sign Up to like & getrecommendations! Published in 2019 at "Indian Journal of Ophthalmology"
DOI: 10.4103/ijo.ijo_1407_18
Abstract: A 11-year-old boy presented with complaints of blurred vision and on evaluation was found to have X-linked retinoschisis (XLRS) with angle-closure glaucoma. Clinical and genetic evaluation of first-degree family members was done. His brother had… read more here.
Keywords: closure glaucoma; linked retinoschisis; angle closure;