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X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients

(2022) OPHTHALMOLOGY. 129(2). p.191-202
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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 rho = -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.(G1u72Lys)) (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. (C) 2021 by the American Academy of Ophthalmology.
Keywords
JUVENILE RETINOSCHISIS, CLINICAL FINDINGS, NATURAL-HISTORY, VISUAL-ACUITY, GENE-THERAPY, PHENOTYPE, GENOTYPE, MUTATIONS, MOUSE, CHILDREN, Genotype, Natural history, Phenotype, Surrogate end points, X-linked, retinoschisis

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MLA
Hahn, Leo C., et al. “X-Linked Retinoschisis : Novel Clinical Observations and Genetic Spectrum in 340 Patients.” OPHTHALMOLOGY, vol. 129, no. 2, 2022, pp. 191–202, doi:10.1016/j.ophtha.2021.09.021.
APA
Hahn, L. C., Schooneveld, M. J. van, Wesseling, N. L., Florijn, R. J., Brink, J. B. ten, Lissenberg-Witte, B. I., … Boon, C. (2022). X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients. OPHTHALMOLOGY, 129(2), 191–202. https://doi.org/10.1016/j.ophtha.2021.09.021
Chicago author-date
Hahn, Leo C., Mary J. van Schooneveld, Nieneke L. Wesseling, Ralph J. Florijn, Jacoline B. ten Brink, Birgit I. Lissenberg-Witte, Ine Strubbe, et al. 2022. “X-Linked Retinoschisis : Novel Clinical Observations and Genetic Spectrum in 340 Patients.” OPHTHALMOLOGY 129 (2): 191–202. https://doi.org/10.1016/j.ophtha.2021.09.021.
Chicago author-date (all authors)
Hahn, Leo C., Mary J. van Schooneveld, Nieneke L. Wesseling, Ralph J. Florijn, Jacoline B. ten Brink, Birgit I. Lissenberg-Witte, Ine Strubbe, Magda A. Meester-Smoor, Alberta A. Thiadens, Roselie M. Diederen, Caroline Van Cauwenbergh, Julie De Zaeytijd, SOPHIE WALRAEDT, Elfride De Baere, Caroline C. W. Klaver, Jeannette Ossewaarde-van Norel, L. Ingeborgh van den Born, Carel B. Hoyng, Maria M. van Genderen, Paul A. Sieving, Bart Leroy, Arthur A. Bergen, and Camiel Boon. 2022. “X-Linked Retinoschisis : Novel Clinical Observations and Genetic Spectrum in 340 Patients.” OPHTHALMOLOGY 129 (2): 191–202. doi:10.1016/j.ophtha.2021.09.021.
Vancouver
1.
Hahn LC, Schooneveld MJ van, Wesseling NL, Florijn RJ, Brink JB ten, Lissenberg-Witte BI, et al. X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients. OPHTHALMOLOGY. 2022;129(2):191–202.
IEEE
[1]
L. C. Hahn et al., “X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients,” OPHTHALMOLOGY, vol. 129, no. 2, pp. 191–202, 2022.
@article{8750799,
  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 rho = -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.(G1u72Lys)) (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. (C) 2021 by the American Academy of Ophthalmology.}},
  author       = {{Hahn, Leo C. and Schooneveld, Mary J. van and Wesseling, Nieneke L. and Florijn, Ralph J. and Brink, Jacoline B. ten and Lissenberg-Witte, Birgit I. and Strubbe, Ine and Meester-Smoor, Magda A. and Thiadens, Alberta A. and Diederen, Roselie M. and Van Cauwenbergh, Caroline and De Zaeytijd, Julie and WALRAEDT, SOPHIE and De Baere, Elfride and Klaver, Caroline C. W. and Norel, Jeannette Ossewaarde-van and Born, L. Ingeborgh van den and Hoyng, Carel B. and Genderen, Maria M. van and Sieving, Paul A. and Leroy, Bart and Bergen, Arthur A. and Boon, Camiel}},
  issn         = {{0161-6420}},
  journal      = {{OPHTHALMOLOGY}},
  keywords     = {{JUVENILE RETINOSCHISIS,CLINICAL FINDINGS,NATURAL-HISTORY,VISUAL-ACUITY,GENE-THERAPY,PHENOTYPE,GENOTYPE,MUTATIONS,MOUSE,CHILDREN,Genotype,Natural history,Phenotype,Surrogate end points,X-linked,retinoschisis}},
  language     = {{eng}},
  number       = {{2}},
  pages        = {{191--202}},
  title        = {{X-linked Retinoschisis : novel clinical observations and genetic spectrum in 340 patients}},
  url          = {{http://dx.doi.org/10.1016/j.ophtha.2021.09.021}},
  volume       = {{129}},
  year         = {{2022}},
}

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