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http://dx.doi.org/10.4103/ijo.IJO_698_21 | DOI Listing |
Eur J Prev Cardiol
August 2025
First Department of Cardiology, School of Medicine, National and Kapodistrian University of Athens, Hippokration General Hospital, 11527, Athens, Greece.
J Clin Neurosci
July 2025
General Hospital Gbagada, Lagos State University Teaching Hospital Annex, Gbagada, Lagos, Nigeria. Electronic address:
JAMA Ophthalmol
August 2025
Department of Ophthalmology, Hadassah Medical Center, Faculty of Medicine, the Hebrew University of Jerusalem, Jerusalem, Israel.
Importance: Uncovering the genetic basis of inherited retinal diseases (IRDs) can enhance both diagnostic accuracy and the development of targeted treatment strategies.
Objective: To evaluate the association between a homozygous nonsense variant in CREB3 with IRDs.
Design, Setting, And Participants: Thirteen patients with a clinical diagnosis of retinitis pigmentosa or cone-rod degeneration were analyzed by whole-genome sequencing (WGS) and whole-exome sequencing (WES).
Disabil Health J
October 2025
Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore; NUS Yong Loo Lin School of Medicine, National University of Singapore, Singapore.
Two recently published qualitative studies-conducted in Australia and Singapore-coincided with Rare Disease Day 2025, and they delved into the profound psychosocial impacts of inherited retinal diseases (IRDs) among working-age adults. Both studies independently identified similar themes related to identity disruption, social invisibility, emotional turbulence and the significant challenges of adapting to progressive vision loss. This serendipitous alignment highlights the universal challenges and struggles of IRD across distinct cultures, and the findings illuminate how IRDs transcend medical diagnoses, demanding coordinated psychosocial support and policy-level interventions.
View Article and Find Full Text PDFJAMA Ophthalmol
August 2025
Byers Eye Institute, Horngren Family Vitreoretinal Center, Department of Ophthalmology, Stanford University School of Medicine, Palo Alto, California.
Importance: Proliferative vitreoretinopathy (PVR) is a major cause of retinal detachment (RD) repair failure, resulting in poor visual outcomes. Cannabis use continues to increase globally and may affect PVR development through its anti-inflammatory and neuroprotective properties, although this association remains unclear.
Objective: To assess the risk of developing PVR among patients with concomitant cannabis use who underwent primary RD repair.