Results 21 to 30 of about 7,532,788 (147)

Exudative maculopathy in presumed X-linked retinoschisis with review of literature [PDF]

Indian Journal of Ophthalmology, 2022
Srishti Ramamurthy, Deepika C Parameswarappa, Srikanta K Padhy, Brijesh Takkar   +3 more
doaj   +2 more sources

Case report: Familial foveal retinoschisis caused by CRB1 gene mutation in a family with recessive inheritance

Frontiers in Medicine, 2023
X-linked retinoschisis is more common in male children and rare in females. Clinically, male patients mainly present with early onset visual impairment or vision loss, and retinal retinoschisis due to division of the inner retina.
Shu Liu, Shu Liu, Yue Ren, Di Wang, Dan Xiao, Zhuang Li, Dan Xu, Yan Sun, Zhuoshi Wang, Jijing Pang, Jijing Pang, Jijing Pang   +11 more
doaj   +1 more source

Deep learning model for detecting cystoid fluid collections on optical coherence tomography in X-linked retinoschisis patients. [PDF]

Acta Ophthalmol
Abstract 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, El Allali Y, Almushattat H, de Vente C, Sánchez CI, Boon CJF.   +5 more
europepmc   +2 more sources

Artificial intelligence-quantified schisis volume as a structural endpoint for gene therapy clinical trials in X-linked retinoschisis. [PDF]

Acta Ophthalmol
Abstract 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, Dai P, Hensman J, Kiraly P, Fenner BJ, Liu Y, Goh RSM, Han IC, Ting DSW, Boon CJF, Fischer MD.   +10 more
europepmc   +2 more sources

X-linked Juvenile Retinoschisis in a Young Female

Journal of Nepal Health Research Council, 2022
X-linked juvenile retinoschisis has recessive inheritance which occurs due to RS1 gene mutation. We report an instance in a female managed with systemic and topical carbonic-anhydrase inhibitors.
Sudha Ranabhat, Raghunandan Byanju, Simanta Khadka   +2 more
doaj   +1 more source

Adult Presentation of X-Linked Retinoschisis: Patient and Physician Perspectives. [PDF]

, 2020
This commentary article is co-authored by an adult patient with X-linked retinoschisis and two ophthalmologists affiliated with the University Hospitals Birmingham NHS Foundation Trust.
Chong, Yu Jeat, Denniston, Alastair; id_orcid, Denniston, Alastair K, Price-Hunt, Grahame   +3 more
core   +1 more source

X-Linked Retinoschisis in Females in a Consanguineous Family: A Rare Entity [PDF]

, 2020
X-linked juvenile retinoschisis (XLRS) is a disease considered characteristic for males. In this study we report a consanguineous family in which 3 daughters were diagnosed with XLRS.
Onen, Mehmet, Gamze Yıldırım, Kucuk, Erkut, Erkut Küçük, Yildirim, Gamze, Kürşat Zor, Zor, Kursat, Mehmet Önen   +7 more
core   +1 more source

Family case of X-Linked Retinoschisis with ocular complications [PDF]

, 2020
Congresul consacrat aniversării a 75-a de la fondarea Universității de Stat de Medicină și Farmacie „Nicolae Testemițanu” din Republica Moldova, Ziua internațională a științei pentru pace și dezvoltareIntroduction Juvenile retinoschisis or X-Linked ...
Bucinscaia, Larisa
core   +1 more source

Establishment of a human induced pluripotent stem cell line (CSUASOi005-A), from peripheral blood mononuclear cells of a patient with X-linked juvenile retinoschisis carrying a novel mutation in RS1 gene

Stem Cell Research, 2020
X-linked retinoschisis (XLRS) is a one of most common retinal genetic diseases of juvenile progressive vitreoretinal degeneration in males, which caused by the mutation of RS1 gene.
Shengru Mao, Chengcheng Ding, Yalan Zhou, Yutong Jing, Juan Chen, Yonglong Guo, Jian Liu, Zekai Cui, Xin Yan, Jianing Gu, Yini Wang, Jiansu Chen, Shibo Tang   +12 more
doaj   +1 more source

A Carrier Female Manifesting an Unusual X-Linked Retinoschisis Phenotype Associated with the Pathogenic Variant c.266delA, p.(Tyr89LeufsTer37) in RS1, and Skewed X-Inactivation. [PDF]

Genes (Basel), 2023
X-linked retinoschisis (XLRS) is the most common juvenile macular degeneration in males. Unlike most other X-linked retinal dystrophies, carrier heterozygous females are very rarely reported to show clinical features of the disease.
Kirkby J, Halford S, Shanks M, Moore A, Gait A, Jenkins L, Clouston P, Patel CK, Downes SM.   +8 more
europepmc   +2 more sources