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X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients
Institution:1. Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands;2. Bartiméus, Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands;3. Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands;4. Department of Epidemiology and Biostatistics, Amsterdam University Medical Centers, Amsterdam, The Netherlands;5. Department of Ophthalmology, University Hospital Ghent, Ghent University & Ghent University, Ghent, Belgium;6. Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands;7. Center for Medical Genetics Ghent, Ghent University Hospital & Ghent University, Ghent, Belgium;8. Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands;9. Institute of Molecular and Clinical Ophthalmology, University Hospital Basel, University of Basel, Basel, Switzerland;10. Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands;11. The Rotterdam Eye Hospital and the Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands;12. Department of Ophthalmology, School of Medicine, University of California at Davis, Sacramento, California;13. Division of Ophthalmology & CCMT, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania;14. The Netherlands Institute for Neuroscience (NIN-KNAW), Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands;15. Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands
Abstract:
Keywords:Genotype  Natural history  Phenotype  Surrogate end points  X-linked retinoschisis  D"}  {"#name":"keyword"  "$":{"id":"kwrd0040"}  "$$":[{"#name":"text"  "_":"diopter  ELM"}  {"#name":"keyword"  "$":{"id":"kwrd0050"}  "$$":[{"#name":"text"  "_":"external limiting membrane  EZ"}  {"#name":"keyword"  "$":{"id":"kwrd0060"}  "$$":[{"#name":"text"  "_":"ellipsoid zone  IQR"}  {"#name":"keyword"  "$":{"id":"kwrd0070"}  "$$":[{"#name":"text"  "_":"interquartile range  logMAR"}  {"#name":"keyword"  "$":{"id":"kwrd0080"}  "$$":[{"#name":"text"  "_":"logarithm of the minimum angle of resolution  PROS"}  {"#name":"keyword"  "$":{"id":"kwrd0090"}  "$$":[{"#name":"text"  "_":"photoreceptor outer segment  RPE"}  {"#name":"keyword"  "$":{"id":"kwrd0100"}  "$$":[{"#name":"text"  "_":"retinal pigment epithelium  SD"}  {"#name":"keyword"  "$":{"id":"kwrd0110"}  "$$":[{"#name":"text"  "_":"spectral-domain  VA"}  {"#name":"keyword"  "$":{"id":"kwrd0120"}  "$$":[{"#name":"text"  "_":"visual acuity  XLRS"}  {"#name":"keyword"  "$":{"id":"kwrd0130"}  "$$":[{"#name":"text"  "_":"X-linked retinoschisis
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