Genotypic and Phenotypic Spectrum of Foveal Hypoplasia: A Multicenter Study |
| |
| Affiliation: | 1. The University of Leicester Ulverscroft Eye Unit, Department of Neuroscience, Psychology and Behaviour, University of Leicester, Leicester, United Kingdom;2. Academic Unit of Ophthalmology and Orthoptics, University of Sheffield, Sheffield, United Kingdom;3. Institute of Vision Research, Department of Ophthalmology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Korea;4. Department of Ophthalmology, Rigshospitalet, Denmark;5. Department of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark;6. Department of Ophthalmology, University Medical Centre Utrecht, Utrecht, The Netherlands;7. Bartiméus Diagnostic Centre for Complex Visual Disorders, Zeist, The Netherlands;8. Department of Ophthalmology, The Rebecca D. Considine Research Institute and The Children''s Vision Center, Akron Children''s Hospital, Akron, Ohio; Department of Surgery, The Northeastern Ohio Medical University, Rootstown, Ohio;9. Department of Clinical Genetics, Rigshospitalet-Kennedy Center, Glostrup, Denmark;10. Department of Ophthalmology, Beijing Children''s Hospital, National Center for Children''s Health, Capital Medical University, Beijing, China;11. Department of Dermatology, Beijing Tongren Hospital, Capital Medical University, Beijing, China;12. Beijing Key Laboratory for Genetics of Birth Defects, Beijing Pediatric Research Institute; Rare Disease Center, National Center for Children''s Health; MOE Key Laboratory of Major Diseases in Children, Beijing Children''s Hospital, Capital Medical University, Beijing, China;13. Beijing Tongren Eye Centre, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China;14. Sorbonne Université, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Institut de la Vision, Paris, France; Exploration de la Vision et Neuro-Ophtalmologie, CHU de Lille, Lille, France;15. Department of Neurology, Pusan National University School of Medicine, Research Institute for Convergence of Biomedical Science and Technology, Pusan National University Yangsan Hospital, Yangsan, South Korea;16. Department of Health Sciences, University of Leicester, Leicester, United Kingdom;17. Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, Minnesota;18. Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Crawley, Australia;19. Retina and Vitreous Sector of Santa Casa de Misericórdia de São Paulo, São Paulo, Brazil;20. Sidney Kimmel Medical College of Thomas Jefferson University, Nemours Children’s Health, Philadelphia, Pennsylvania;21. Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland;22. Centre for Ophthalmology, Institute for Ophthalmic Research, University Tübingen, Tübingen, Germany;23. Rare Diseases, Genetics and Metabolism, INSERM U1211, University of Bordeaux, Bordeaux, France; Molecular Genetics Laboratory, Bordeaux University Hospital, Bordeaux, France;24. National Centre for Biotechnology (CNB-CSIC) and CIBERER-ISCIII, Madrid, Spain;25. Departments of Neurology and Ophthalmology, Boston Children''s Hospital and Harvard Medical School, Boston, Massachusetts;26. Howard Hughes Medical Institute, Chevy Chase, Maryland;27. International Institute of Information Technology, Hyderabad, India;28. Foveal Development Investigators Group;29. Cooper Neurological Institute, Cooper Medical School of Rowan University, Camden, New Jersey;30. Nemours Children’s Health, Wilmington, Delaware |
| |
| Abstract: | ![]()
|
| |
| Keywords: | Foveal hypoplasia Genetics Genotype-phenotype correlation OCT Retinal development SLC38A8 FHONDA Albinism Hermansky–Pudlak syndrome PAX6 Aniridia AHR FRMD7 GPR143 FH" },{" #name" :" keyword" ," $" :{" id" :" kwrd0040" }," $$" :[{" #name" :" text" ," _" :" foveal hypoplasia HPS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0050" }," $$" :[{" #name" :" text" ," _" :" Hermansky–Pudlak syndrome logMAR" },{" #name" :" keyword" ," $" :{" id" :" kwrd0060" }," $$" :[{" #name" :" text" ," _" :" logarithm of the minimum angle of resolution OA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0070" }," $$" :[{" #name" :" text" ," _" :" ocular albinism ONL" },{" #name" :" keyword" ," $" :{" id" :" kwrd0080" }," $$" :[{" #name" :" text" ," _" :" outer nuclear layer OS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0090" }," $$" :[{" #name" :" text" ," _" :" outer segment PRS" },{" #name" :" keyword" ," $" :{" id" :" kwrd0100" }," $$" :[{" #name" :" text" ," _" :" photoreceptor specialization VA" },{" #name" :" keyword" ," $" :{" id" :" kwrd0110" }," $$" :[{" #name" :" text" ," _" :" visual acuity |
| 本文献已被 ScienceDirect 等数据库收录！ |
|
