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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 syndromes.

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作者单位: Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Jones Eye Institute, University of Arkansas for Medical Sciences, Little Rock, AR, USA. Electronic address: michalis.georgiou.16@ucl.ac.uk. [1] Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address: anthony.robson3@nhs.net. [2] Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan. Electronic address: k.fujinami@ucl.ac.uk. [3] Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address: thales.guimaraes.19@ucl.ac.uk. [4] UCL Institute of Ophthalmology, University College London, London, United Kingdom; Laboratory of Visual Physiology, Division of Vision Research, National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan; Department of Health Policy and Management, Keio University School of Medicine, Tokyo, Japan. Electronic address: y.fujinami@keio.jp. [5] Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address: m.daichvarela@ucl.ac.uk. [6] Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address: n.pontikos@ucl.ac.uk. [7] Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address: a.kalitzeos@ucl.ac.uk. [8] Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom; Section of Ophthalmology, King s College London, St Thomas Hospital Campus, London, United Kingdom; Physiology, Development and Neuroscience, University of Cambridge, Downing Street, Cambridge, United Kingdom; Department of Translational Ophthalmology, Wills Eye Hospital, Philadelphia, PA, USA. Electronic address: o.mahroo@ucl.ac.uk. [9] Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address: andrew.webster@ucl.ac.uk. [10] Moorfields Eye Hospital, London, United Kingdom; UCL Institute of Ophthalmology, University College London, London, United Kingdom. Electronic address: michel.michaelides@ucl.ac.uk. [11]
DOI 10.1016/j.preteyeres.2024.101244
PMID 38278208
发布时间 2024-06-04
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