Results 1 to 10 of about 1,694 (121)
Cold Spring Harb Perspect Med, 2023 X-linked retinoschisis (XLRS) is an inherited vitreoretinal dystrophy causing visual impairment in males starting at a young age with an estimated prevalence of 1:5000 to 1:25,000. The condition was first observed in two affected brothers by Josef Haas in 1898 and is clinically diagnosed by characteristic intraretinal cysts arranged in a petaloid ...
Ku CA, Wei LW, Sieving PA.
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Indian J Ophthalmol, 2020 X-linked retinoschisis (XLRS) is an inherited retinal degeneration which was first described in 1898. The disease is associated with the mutation of RS-1 gene. XLRS can lead to foveal and peripheral retinal schisis, retinal detachment, or macula atrophy, and further casue visual impairment since childhood.
Dubey D, Azad SV.
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X-Linked Retinoschisis Masquerading Uveitis. [PDF]
J Clin Med, 2023 X-linked retinoschisis (XLRS) shows features also seen in patients with uveitis and is recognized as an uveitis masquerade syndrome. This retrospective study aimed to describe characteristics of XLRS patients with an initial uveitis diagnosis and to contrast these to patients with an initial XLRS diagnosis.
Mautone L +6 more
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Vitreoretinal complications and surgical outcomes in patients with X-linked retinoschisis. [PDF]
Acta OphthalmolAbstract Purpose X‐linked retinoschisis (XLRS) is an inherited vitreoretinal disorder characterized by macular retinoschisis. In a subgroup of patients, peripheral retinoschisis can occur, potentially leading to complications such as vitreous haemorrhage (VH) and retinal detachment (RD).
Hensman J +11 more
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Vitreous hemorrhage in X-linked retinoschisis. [PDF]
Am J Ophthalmol Case Rep, 2022 To report a case of preretinal hemorrhage from extraretinal neovascularization related to capillary non-perfused retina within a large schisis in a pediatric patient with X-linked retinoschisis (XLRS).A 4-year old male with an RS1 mutation and XLRS presented with preretinal and vitreous hemorrhage in the right eye. Retinal imaging, including wide angle
Parra MM, Hartnett ME.
europepmc +4 more sources
Deep learning model for detecting cystoid fluid collections on optical coherence tomography in X-linked retinoschisis patients. [PDF]
Acta OphthalmolAbstract Purpose To validate a deep learning (DL) framework for detecting and quantifying cystoid fluid collections (CFC) on spectral‐domain optical coherence tomography (SD‐OCT) in X‐linked retinoschisis (XLRS) patients. Methods A no‐new‐U‐Net model was trained using 112 OCT volumes from the RETOUCH challenge (70 for training and 42 for internal ...
Hensman J +5 more
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Artificial intelligence-quantified schisis volume as a structural endpoint for gene therapy clinical trials in X-linked retinoschisis. [PDF]
Acta OphthalmolAbstract Purpose To use artificial intelligence (AI) for quantifying schisis volume (ASV) in X‐linked retinoschisis (XLRS) for use as a structural endpoint in gene therapy clinical trials. Methods We used data from Singapore, the United Kingdom, the Netherlands, and the United States. The AI model was developed on 250 optical coherence tomography (OCT)
Tan TE +10 more
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X-linked retinoschisis: an update [PDF]
Journal of Medical Genetics, 2006 X-linked retinoschisis is the leading cause of macular degeneration in males and leads to splitting within the inner retinal layers leading to visual deterioration. Many missense and protein truncating mutations have now been identified in the causative retinoschisis gene (RS1) which encodes a 224 amino acid secreting retinal protein, retinoschisin ...
Sikkink, Stephen K. +4 more
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British Journal of Ophthalmology, 1995 X-linked retinoschisis (MIM#312700) is linked to mutations in RS1 encoding retinoschisin a protein critical for cell-cell adhesion and intercellular matrix interactions. It is a rare inherited disorder with a prevalence estimated between 1/5,000 and 1/20,000, affecting male subjects with female carriers being asymptomatic with only few reports of ...
N D, George, J R, Yates, A T, Moore
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