Norrie disease is a genetic disorder of the retina characterized by impaired retinal vascular development leading to retinal detachment and blindness. Non-retinal manifestations of the disorder include intellectual disability and seizure disorders. However, to date, no association with neurological mass lesions has been described. Case repor Here, we report a case of a patient with Norrie disease who presented with an enhancing mass of the choroid plexus that spontaneously diminished in size. This report suggests watchful waiting as a reasonable clinical approach to choroid plexus lesions in patients with Norrie disease.
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| http://dx.doi.org/10.1080/13816810.2021.1894459 | DOI Listing |
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Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.
Proc Natl Acad Sci U S A
December 2024
Developmental Biology and Cancer Department, University College London Great Ormond Street Institute of Child Health, University College London, and National Institute for Health and Care Research Great Ormond Street Hospital Biomedical Research Centre, London WC1N 1EH, United Kingdom.
Variants in the gene cause Norrie disease, a severe dual-sensory disorder characterized by congenital blindness due to disrupted retinal vascular development and progressive hearing loss accompanied by sensory hair cell death. encodes the secreted signaling molecule norrin. The role of norrin in the cochlea is incompletely understood.
View Article and Find Full Text PDFAbnormal cochlear enhancement in Norrie disease.
Neuroradiol J
November 2024
Department of Radiology, Massachusetts General Hospital, USA.
Article Synopsis
- A new case shows unusual cochlear enhancement on MRI in a 3-year-old with ND and normal hearing, which hasn't been documented before.
- Future research should investigate the timing of cochlear changes and their relationship to hearing loss, as this could help with gene therapy candidates and offer clues about treatment outcomes.
Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Ophthalmol Sci
March 2024
Department of Ophthalmology, Kindai University Faculty of Medicine, Osakasayama, Japan.
Article Synopsis
- The study aimed to explore the clinical characteristics of familial exudative vitreoretinopathy (FEVR) linked to either the Norrin or β-catenin genes, analyzing data from 281 subjects.
- Researchers utilized whole-exome sequencing and Sanger sequencing to assess genetic variants and their association with clinical symptoms in FEVR patients.
- The results indicated that a significant portion of probands with pathogenic variants showed more severe disease characteristics, including familial patterns of inheritance, rapid progression during infancy, and higher asymmetry in eye severity compared to those without these variants.
The tale of capturing Norrin.
Elife
May 2024
Department of Cell Biology and Human Anatomy, University of California, Davis, Davis, United States.
Detailed binding experiments reveal new insights into the Norrin/Wnt signaling pathway that helps to control vascularization in the retina.
View Article and Find Full Text PDFInvestigating the Impact of Dimer Interface Mutations on Norrin's Secretion and Norrin/β-Catenin Pathway Activation.
Invest Ophthalmol Vis Sci
March 2024
Sichuan Provincial Key Laboratory for Human Disease Gene Study, Center for Medical Genetics and Department of Laboratory Medicine, Sichuan Provincial People's Hospital, University of Electronic Science and Technology of China, Chengdu, China.
Article Synopsis
- The study explores how 21 specific mutations at the dimer interface of the Norrin protein affect its ability to assemble, get secreted effectively, and activate the Norrin/β-catenin signaling pathway.
- Researchers used methods like Western blot and immunofluorescence to analyze the expression, secretion, and localization of these mutations in various cell lines.
- Results indicated that four mutants were similar to the wild-type, while the other 17 showed problems like poor assembly, reduced secretion, and impaired signaling, highlighting mechanisms behind certain genetic diseases.
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