Publication: The Natural History of Congenital X-Linked Retinoschisis and Conversion between Phenotypes over Time
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Issued Date
2019
Resource Type
File Type
application/pdf
ISSN
24686530
Other identifier(s)
2-s2.0-85070434816
Rights Holder(s)
Scopus
Bibliographic Citation
Ophthalmology Retina. Vol 3, No.1 (2019), p.77-82
Suggested Citation
Wood E.H., Lertjirachai I., Ghiam B.K., Koulisis N., Moysidis S.N., Dirani A., Drenser K.A., Capone A., Jr., Trese M.T. The Natural History of Congenital X-Linked Retinoschisis and Conversion between Phenotypes over Time. Ophthalmology Retina. Vol 3, No.1 (2019), p.77-82. doi:10.1016/j.oret.2018.08.006 Retrieved from: https://hdl.handle.net/20.500.14740/5645
Abstract
Purpose: To evaluate the natural history of congenital X-linked retinoschisis (CXLRS) and to assess disease stability or progression over time. Design: Retrospective case series at a single-center, tertiary care, pediatric retina practice. Participants: One hundred two eyes of 51 patients with CXLRS. Methods: The clinical examinations, fundus photographs, and OCT images of all patients with CXLRS were assessed. Eyes that initially demonstrated combined retinoschisis–retinal detachments and those with large, centrally overhanging schisis cavities were excluded from the analysis (n = 49) because they underwent surgery, which precluded observation of the natural disease course. Main Outcome Measures: Stability or conversion of CXLRS phenotype over time. Results: Fifty-three eyes met inclusion criteria for observation of natural disease history over time. At the time of diagnosis, 7.5% of eyes showed type 1 disease (n = 4), 17% showed type 2 disease (n = 9), 66% showed type 3 disease (n = 35), and 9.5% showed type 4 disease (n = 5). Mean length of follow-up was 7.4 years. A total of 7.5% of eyes demonstrated a combined retinoschisis–retinal detachment requiring surgery (n = 4), whereas 1.8% demonstrated a large, centrally overhanging schisis cavity requiring surgery (n = 1). Overall, 83% of eyes (n = 44) remained the same type without conversion or development of a complication requiring surgery. The remaining 17% of eyes (n = 9) experienced some type of change from their baseline diagnosis, with 7.5% (n = 4) converting between phenotypes and 9.5% (n = 5) demonstrating a complication requiring surgery; 3.75% of eyes (n = 2) converted from type 2 to 3 and 7.5% of eyes (n = 4) converted from type 3 to a combined retinoschisis–retinal detachment with mean time to conversion of 4.07 years. Conclusions: This longitudinal study conveyed the natural history of CXLRS. Congenital X-linked retinoschisis displayed long-term stability in 83% of eyes with conversion or progression of the disease to a more severe phenotype in the remaining cases. Type 3 CXLRS was a risk factor for the development of a combined retinoschisis–retinal detachment and may benefit from closer follow-up. © 2018 American Academy of Ophthalmology
Subject(s)
Dorzolamide
Adult
Article
Congenital X linked retinoschisis
Disease course
Disease severity
Female
Follow up
Human
Longitudinal study
Major clinical study
Male
Neovascular glaucoma
Optical coherence tomography
Phenotype
Priority journal
Retina detachment
Retina disease
Retrospective study
Risk factor
Visual acuity
Vitreous hemorrhage
X chromosome
Adult
Article
Congenital X linked retinoschisis
Disease course
Disease severity
Female
Follow up
Human
Longitudinal study
Major clinical study
Male
Neovascular glaucoma
Optical coherence tomography
Phenotype
Priority journal
Retina detachment
Retina disease
Retrospective study
Risk factor
Visual acuity
Vitreous hemorrhage
X chromosome