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Ophthalmology Science|February 20, 2026
Visual Field Estimation in X-Linked Retinitis Pigmentosa Associated with Retinitis Pigmentosa GTPase Regulator (<i>RPGR</i>) from Image Analysis Using Artificial IntelligenceMalena Daich Varela, William Woof, Yathusha Kumarasamy, et al.
American Journal of Ophthalmology|November 17, 2023
RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History in a Large Cohort of Female CarriersMichalis Georgiou, Anthony G Robson, Sami H Uwaydat, et al.
Progress in Retinal and Eye Research|January 26, 2024
Phenotyping and genotyping inherited retinal diseases: Molecular genetics, clinical and imaging features, and therapeutics of macular dystrophies, cone and cone-rod dystrophies, rod-cone dystrophies, Leber congenital amaurosis, and cone dysfunction syndromesMichalis Georgiou, Anthony G Robson, Kaoru Fujinami, et al.
Progress in Retinal and Eye Research|August 30, 2020
The X-linked retinopathies: Physiological insights, pathogenic mechanisms, phenotypic features and novel therapiesSamantha R De Silva, Gavin Arno, Anthony G Robson, et al.
Ophthalmology. Retina|January 14, 2020
Juvenile Batten Disease (CLN3): Detailed Ocular Phenotype, Novel Observations, Delayed Diagnosis, Masquerades, and Prospects for TherapyGenevieve A Wright, Michalis Georgiou, Anthony G Robson, et al.
Biomedicines|September 27, 2025
Machine Learning-Based Analysis of Optical Coherence Tomography Angiography Images for Age-Related Macular DegenerationAbdullah Alfahaid, Tim Morris, Tim Cootes, et al.
Translational Vision Science & Technology|September 12, 2025
Advancing Question-Answering in Ophthalmology With Retrieval-Augmented Generation: Benchmarking Open-Source and Proprietary Large Language ModelsQuang Nguyen, Duy-Anh Nguyen, Khang Dang, et al.
Proceedings of the National Academy of Sciences of the United States of America|July 9, 2020
A frameshift variant in specificity protein 1 triggers superactivation of Sp1-mediated transcription in familial bone marrow failureHemanth Tummala, Amanda J Walne, Findlay Bewicke-Copley, et al.
Translational Vision Science & Technology|September 30, 2022
Phenotyping of ABCA4 Retinopathy by Machine Learning Analysis of Full-Field ElectroretinographySophie L Glinton, Antonio Calcagni, Watjana Lilaonitkul, et al.
Molecular Vision|September 14, 2018
Novel homozygous splicing mutations in Alessia Fiorentino, Jing Yu, Gavin Arno, et al.
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