X-Linked Retinoschisis
Ophthalmology, vol. 129, pp. 191–202
Abstract
PURPOSE: To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS). DESIGN: Retrospective cohort study. PARTICIPANTS: Three hundred forty patients with XLRS from 178 presumably unrelated families. METHODS: This multicenter, retrospective cohort study reviewed medical records of patients with XLRS for medical history, symptoms, visual acuity (VA), ophthalmoscopy, full-field electroretinography, and retinal imaging (fundus photography, spectral-domain [SD] OCT, fundus autofluorescence). MAIN OUTCOME MEASURES: Age at onset, age at diagnosis, severity of visual impairment, annual visual decline, and electroretinography and imaging findings. RESULTS: Three hundred forty patients were included with a mean follow-up time of 13.2 years (range, 0.1-50.1 years). The median ages to reach mild visual impairment and low vision were 12 and 25 years, respectively. Severe visual impairment and blindness were observed predominantly in patients older than 40 years, with a predicted prevalence of 35% and 25%, respectively, at 60 years of age. The VA increased slightly during the first 2 decades of life and subsequently transitioned into an average annual decline of 0.44% (P < 0.001). No significant difference was found in decline of VA between variants that were predicted to be severe and mild (P = 0.239). The integrity of the ellipsoid zone (EZ) as well as the photoreceptor outer segment (PROS) length in the fovea on SD OCT correlated significantly with VA (Spearman's ρ = -0.759 [P < 0.001] and -0.592 [P = 0.012], respectively). Fifty-three different RS1 variants were found. The most common variants were the founder variant c.214G→A (p.(Glu72Lys)) (101 patients [38.7%]) and a deletion of exon 3 (38 patients [14.6%]). CONCLUSIONS: Large variabilities in phenotype and natural course of XLRS were seen in this study. In most patients, XLRS showed a slow deterioration starting in the second decade of life, suggesting an optimal window of opportunity for treatment within the first 3 decades of life. The integrity of EZ as well as the PROS length on SD OCT may be important in choosing optimal candidates for treatment and as potential structural end points in future therapeutic studies. No clear genotype-phenotype correlation was found.
Authors 22
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Amsterdam University Medical Centers · University of Amsterdam
Affiliation as printed
Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands
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Amsterdam University Medical Centers · Bartiméus · University of Amsterdam
Affiliation as printed
Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; Bartiméus, Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands
Bartiméus, Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands
Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands
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Amsterdam University Medical Centers · University of Amsterdam
Affiliation as printed
Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands
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Amsterdam University Medical Centers · University of Amsterdam
Affiliation as printed
Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands
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Amsterdam University Medical Centers · University of Amsterdam
Affiliation as printed
Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands
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Amsterdam University Medical Centers
Affiliation as printed
Department of Epidemiology and Biostatistics, Amsterdam University Medical Centers, Amsterdam, The Netherlands
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Ghent University Hospital · Ghent University
Affiliation as printed
Department of Ophthalmology, University Hospital Ghent, Ghent University & Ghent University, Ghent, Belgium
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Affiliation as printed
Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands
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Affiliation as printed
Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands
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Amsterdam University Medical Centers · University of Amsterdam
Affiliation as printed
Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands
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Ghent University Hospital · Ghent University
Affiliation as printed
Department of Ophthalmology, University Hospital Ghent, Ghent University & Ghent University, Ghent, Belgium; Center for Medical Genetics Ghent, Ghent University Hospital & Ghent University, Ghent, Belgium
Center for Medical Genetics Ghent, Ghent University Hospital & Ghent University, Ghent, Belgium
Department of Ophthalmology, University Hospital Ghent, Ghent University & Ghent University, Ghent, Belgium
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Ghent University Hospital · Ghent University
Affiliation as printed
Department of Ophthalmology, University Hospital Ghent, Ghent University & Ghent University, Ghent, Belgium
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Ghent University Hospital · Ghent University
Affiliation as printed
Department of Ophthalmology, University Hospital Ghent, Ghent University & Ghent University, Ghent, Belgium
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Radboud University Nijmegen · University of Basel · Erasmus MC · University Hospital of Basel · Radboud University Medical Center · Institute of Molecular and Clinical Ophthalmology Basel
Affiliation as printed
Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands; Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands; Institute of Molecular and Clinical Ophthalmology, University Hospital Basel, University of Basel, Basel, Switzerland
Department of Ophthalmology, Erasmus Medical Center, Rotterdam, The Netherlands
Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands
Institute of Molecular and Clinical Ophthalmology, University Hospital Basel, University of Basel, Basel, Switzerland
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University Medical Center Utrecht
Affiliation as printed
Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands
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Affiliation as printed
The Rotterdam Eye Hospital and the Rotterdam Ophthalmic Institute, Rotterdam, The Netherlands
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Radboud University Medical Center
Affiliation as printed
Department of Ophthalmology, Radboud University Medical Center, Nijmegen, The Netherlands
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University Medical Center Utrecht · Bartiméus
Affiliation as printed
Bartiméus, Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands; Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands
Bartiméus, Diagnostic Center for Complex Visual Disorders, Zeist, The Netherlands
Department of Ophthalmology, University Medical Center Utrecht, Utrecht, The Netherlands
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University of California, Davis
Affiliation as printed
Department of Ophthalmology, School of Medicine, University of California at Davis, Sacramento, California
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Children's Hospital of Philadelphia · Ghent University Hospital · Ghent University
Affiliation as printed
Department of Ophthalmology, University Hospital Ghent, Ghent University & Ghent University, Ghent, Belgium; Division of Ophthalmology & CCMT, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
Department of Ophthalmology, University Hospital Ghent, Ghent University & Ghent University, Ghent, Belgium
Division of Ophthalmology & CCMT, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania
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Netherlands Institute for Neuroscience · Royal Netherlands Academy of Arts and Sciences · Amsterdam University Medical Centers · University of Amsterdam
Affiliation as printed
Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; The Netherlands Institute for Neuroscience (NIN-KNAW), Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
Department of Clinical Genetics, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands
The Netherlands Institute for Neuroscience (NIN-KNAW), Royal Netherlands Academy of Arts and Sciences, Amsterdam, The Netherlands
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Camiel J. F. Boon corresponding Aachen Department of Ophthalmology, Leiden University Medical Center
Leiden University Medical Center · Amsterdam University Medical Centers · University of Amsterdam
Affiliation as printed
Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands; Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands. Electronic address: Camiel.boon@amsterdamumc.nl
Department of Ophthalmology, Amsterdam University Medical Centers, University of Amsterdam, Amsterdam, The Netherlands
Department of Ophthalmology, Leiden University Medical Center, Leiden, The Netherlands
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