Results 51 to 60 of about 4,063 (173)
Retinoschisis and Norrie disease: a missing link
BMC Research Notes, 2021 Objective Retinoschisis and Norrie disease are X-linked recessive retinal disorders caused by mutations in RS1 and NDP genes respectively. Both are likely to be monogenic and no locus heterogeneity has been reported.
Rahini Rajendran +5 more
doaj +1 more source
Veterinary Ophthalmology, Volume 29, Issue 3, May 2026.ABSTRACT Objective To compare ImageNet‐pretrained deep convolutional neural networks for automated detection of retinal detachment (RD) in canine fundus photographs. Animals Studied Archived fundus images from 275 dogs. Procedures In this multicenter retrospective study, 2000 color fundus photographs (793 RD; 1207 normal) acquired between 2020 and 2025
Sıtkıcan Okur +7 more
wiley +1 more source
Photodiagnosis and Photodynamic TherapyPurpose: To report the differences between microvascular abnormalities (MVAs) and retinal vasculitis in patients with high myopia (HM) and retinoschisis and discuss the efficacy of treatments, including corticosteroids, and posterior vitreous detachment (
Yunhan Tao +4 more
doaj +1 more source
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
openaire +3 more sources
No Evidence for an Association Between DIP2B Repeat Expansion and Neurological Disease
Movement Disorders, EarlyView.
Chia‐Ying Ko +9 more
wiley +1 more source
BMEMat, Volume 4, Issue 1, March 2026.Efficient drug delivery to the posterior segment of the eye has long been a challenging issue due to the complex ocular barriers. The review focuses on the promise held by nanoplatforms for barrier penetration and the key mechanisms involved, also highlighting their advantages in achieving efficient drug delivery and superior treatment of PSEDs ...
Yifan Shen +7 more
wiley +1 more source
Clinical Case Reports, Volume 14, Issue 2, February 2026.ABSTRACT Papillorenal syndrome (PAPRS), or renal coloboma syndrome, is a rare autosomal dominant disorder caused by PAX2 mutations. It classically manifests with renal hypodysplasia and optic nerve anomalies. However, recent literature suggests an expanding phenotypic spectrum.
Nadira Sultana +2 more
wiley +1 more source
Investigating the Role of Zebrafish Retinoschisin Homologs Rs1a and Rs1b During Retinal Development
Developmental Neurobiology, Volume 86, Issue 1, January 2026.ABSTRACT Deficiency in the retinoschisin protein (RS1) causes X‐linked juvenile retinoschisis (XLRS), a retinal degenerative disease that disrupts retinal layers and forms cystic cavities. In addition to its structural function, RS1 is believed to play a role in retinal development.
Isa van der Veen +4 more
wiley +1 more source
Pediatric Neurosonology in Practice: Bridging Anatomy, Physiology, and Clinical Decision‐Making
Clinical Neuroimaging, Volume 3, Issue 1, 2026.ABSTRACT Pediatric neurosonology is an important component of non‐invasive brain monitoring. The combination of transcranial and ocular ultrasound enables real‐time assessment of cerebral blood flow velocities, autoregulation, and intracranial dynamics across different clinical settings.
Bogdana S. Zoica +10 more
wiley +1 more source
Human Mutation, Volume 2026, Issue 1, 2026.Congenital stationary night blindness (CSNB) is a rare and typically nonprogressive group of genetically heterogeneous disorders resulting in impaired night vision and high myopia with varying levels of visual impairment. Despite being a rare disease with a prevalence of 1:294,000, variants in 22 genes have been associated with specific CSNB phenotypes.
Jennifer Ling +5 more
wiley +1 more source