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X-Linked Retinoschisis: Novel Clinical Observations and Genetic Spectrum in 340 Patients.
- Source :
-
Ophthalmology [Ophthalmology] 2022 Feb; Vol. 129 (2), pp. 191-202. Date of Electronic Publication: 2021 Oct 06. - Publication Year :
- 2022
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Abstract
- Purpose: To describe the natural course, phenotype, and genotype of patients with X-linked retinoschisis (XLRS).<br />Design: Retrospective cohort study.<br />Participants: Three hundred forty patients with XLRS from 178 presumably unrelated families.<br />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).<br />Main Outcome Measures: Age at onset, age at diagnosis, severity of visual impairment, annual visual decline, and electroretinography and imaging findings.<br />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%]).<br />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.<br /> (Copyright © 2021 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)
- Subjects :
- Adolescent
Adult
Aged
Aged, 80 and over
Blindness diagnosis
Blindness physiopathology
Child
Child, Preschool
Electroretinography
Female
Follow-Up Studies
Genetic Association Studies
Humans
Infant
Male
Middle Aged
Ophthalmoscopy
Optical Imaging
Retina diagnostic imaging
Retina physiopathology
Retinal Photoreceptor Cell Outer Segment pathology
Retinoschisis physiopathology
Retrospective Studies
Tomography, Optical Coherence
Vision, Low diagnosis
Vision, Low physiopathology
Visual Acuity physiology
Eye Proteins genetics
Retinoschisis diagnosis
Retinoschisis genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1549-4713
- Volume :
- 129
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Ophthalmology
- Publication Type :
- Academic Journal
- Accession number :
- 34624300
- Full Text :
- https://doi.org/10.1016/j.ophtha.2021.09.021