Norrie Disease Latest Advances

Exon 2 mutation of NDP gene presenting as extensive peripheral retinal ischaemia: a manifestation of Norrie disease.

Journal: BMJ case reports

Published: June 24, 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

Long-Term Anatomic and Visual Outcomes of Planned Preterm Delivery and Treatment of Norrie Disease.

Journal: Ophthalmic surgery, lasers & imaging retina

Published: August 11, 2022