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American Journal of Ophthalmology|May 5, 2025
Natural History of Microperimetry and Optical Coherence Tomography in USH2A-Retinopathy: A Structure-Function Association StudyAjoy Vincent, Wendi Liang, Maureen G Maguire, et al.
Ophthalmic Genetics|July 5, 2021
Expanding the clinical phenotype in patients with disease causing variants associated with atypical Usher syndromeAustin D Igelman, Cristy Ku, Mariana Matioli da Palma, et al.
Progress in Retinal and Eye Research|January 20, 2023
Shedding light on myopia by studying complete congenital stationary night blindnessChristina Zeitz, Jérome E Roger, Isabelle Audo, et al.
Investigative Ophthalmology & Visual Science|December 23, 2021
Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10Monika K Grudzinska Pechhacker, Samuel G Jacobson, Arlene V Drack, et al.
American Journal of Ophthalmology|August 25, 2022
Baseline Microperimetry and OCT in the RUSH2A Study: Structure-Function Association and Correlation With Disease SeverityEleonora M Lad, Jacque L Duncan, Wendi Liang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 6, 2020
DYNC2H1 hypomorphic or retina-predominant variants cause nonsyndromic retinal degenerationAnjali Vig, James A Poulter, Daniele Ottaviani, et al.
American Journal of Ophthalmology|June 8, 2025
Natural History of Autosomal Recessive IMPG2-Associated Retinal DystrophyMichalis Georgiou, Kaoru Fujinami, Yu Fujinami-Yokokawa, et al.
Nature Genetics|June 2, 2015
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsiaSusanne Kohl, Ditta Zobor, Wei-Chieh Chiang, et al.
Investigative Ophthalmology & Visual Science|April 14, 2026
ABCA4 Versus PRPH2-Associated Retinopathy: Clinical and Electrophysiological FindingsRachael C Heath Jeffery, Jennifer A Thompson, Johnny Lo, et al.
The British Journal of Ophthalmology|October 18, 2023
<i>KCNV2</i>-associated retinopathy: genotype-phenotype correlations - <i>KCNV2</i> study group report 3Thales A C de Guimaraes, Michalis Georgiou, Anthony G Robson, et al.
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