Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod …

M Georgiou, AG Robson, K Fujinami… - Progress in retinal and …, 2024 - Elsevier
Inherited retinal diseases (IRD) are a leading cause of blindness in the working age
population and children. The scope of this review is to familiarise clinicians and scientists …

[HTML][HTML] Scavenging of cation radicals of the visual cycle retinoids by lutein, zeaxanthin, taurine, and melanin

M Rozanowska, R Edge, EJ Land… - International journal of …, 2023 - mdpi.com
In the retina, retinoids involved in vision are under constant threat of oxidation, and their
oxidation products exhibit deleterious properties. Using pulse radiolysis, this study …

[HTML][HTML] Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients

TS Aleman, AJ Roman, KE Uyhazi… - … & Visual Science, 2024 - jov.arvojournals.org
Purpose: The purpose of this study was to determine the natural history of the photoreceptor
disease in a large group of pediatric patients with RHD12-associated Leber congenital …