Bi-allelic variants in IDUA classically cause mucopolysaccharidosis type I (MPS I), a multisystem lysosomal storage disorder. This study describes 14 individuals from 12 families presenting with retinitis pigmentosa, later attributed to bi-allelic IDUA genotypes. Notably, seven individuals, despite comprehensive system...
Si-Ying Lin, Seok-Ho Yu, Andrew C. Browning et al.· American Journal of Human Ge...· 0 citations
PURPOSE
To compare anatomical and visual outcomes of inferior versus non-inferior giant retinal tear related rhegmatogenous retinal detachment (GRT-RRD) after primary pars plana vitrectomy (PPV).
METHODS
This retrospective single-centre study included 110 eyes undergoing primary PPV for GRT-RRD between 2012 and 2024....
Péter Király, George Moussa, T. Ivanova et al.· Retina· 0 citations
OCTA represents a promising research tool for investigating retinal and choroidal microvascular alterations associated with pediatric COVID-19 and MIS-C, however, the available evidence remains limited by small observational studies, methodological heterogeneity and inconsistent findings.
E. Christou, J. Ashworth, N. Soliman et al.· Medicina· 0 citations
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