Norrie Disease Latest Advances
Find the Latest Research About Norrie Disease
Last Updated: 04/28/2026
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Found 292 publications
Case Report: Acute keratoconus as the presenting feature in undiagnosed Norrie disease: hypothesis from a novel NDP mutation.
Journal: Frontiers in medicine
Published: October 16, 2025
Rescue of cochlear vascular pathology prevents sensory hair cell loss in Norrie disease.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: November 25, 2024
Abnormal cochlear enhancement in Norrie disease.
Journal: The neuroradiology journal
Published: November 24, 2024
Norrie Disease: Cochlear Enhancement and Cerebellar Signal Abnormalities.
Journal: AJNR. American journal of neuroradiology
Published: June 07, 2024
LRP5 Variant Without Pseudoglioma in a Young Man With Fragility Fractures.
Journal: JCEM case reports
Published: May 20, 2024
Transabdominal Fetal Ultrasound Before Early-Term Planned Delivery for Norrie Disease.
Journal: Journal of vitreoretinal diseases
Published: January 15, 2024
Familial Exudative Vitreoretinopathy With and Without Pathogenic Variants of Norrin/β-Catenin Signaling Genes.
Journal: Ophthalmology science
Published: November 13, 2023
Mechanisms Underlying Rare Inherited Pediatric Retinal Vascular Diseases: FEVR, Norrie Disease, Persistent Fetal Vascular Syndrome.
Journal: Cells
Published: September 14, 2023
Novel mutation in the NDP gene associated with Norrie disease in a Chinese pedigree.
Journal: Molecular genetics & genomic medicine
Published: July 06, 2023
Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.
Journal: EMBO molecular medicine
Published: January 05, 2023
Clinical Exome Sequencing Identifies NDP Gene Variants in Two Chinese Families with X-Linked Norrie Disease.
Journal: Genetic testing and molecular biomarkers
Published: December 28, 2022
Last Updated: 04/28/2026