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Progresión en la retinosquisis ligada al cromosoma X: un estudio longitudinal que define biomarcadores cuantitativos
1Department of Ophthalmology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Purpose:
To delineate age-related changes in visual, structural, and electrophysiologic measures in X-linked retinoschisis (XLRS) and to assess automated cyst-cavity volume (CCV) as a quantitative biomarker.
Design:
Single-center mixed retrospective-prospective cohort study.
Method:
This study included 440 visits from 107 individuals with clinically diagnosed XLRS and confirmed pathogenic RS1 variants. Comprehensive ophthalmic evaluations were performed at baseline and during follow-up, including visual acuity (VA), fundus examination, electroretinogram (ERG), and spectral-domain optical coherence tomography (SD-OCT), with microperimetry (MP) conducted in a subset of patients. Among SD-OCT parameters, CCV was automatically quantified using self-developed DEEP-OCT-CCSEG system. Annual progression rates were estimated using restricted cubic spline or linear regression models, and interocular agreement was evaluated with Bland-Altman and intraclass correlation analyses.
Results:
In this cohort, 70% patients presented by age 10. The median age at first examination was 7.3 years (range, 1.9-78.5) over a mean follow-up of 1.9 years. Baseline means were: VA 0.82 ± 0.47 logMAR, central foveal thickness (CFT) 495 ± 186 µm, and CCV 1.54 ± 1.16 mm³. Genetic analysis identified 64 distinct RS1 variants, including 5 that were novel. Longitudinally, visual acuity followed a triphasic pattern: slight improvement in childhood, a prolonged plateau through mid-adulthood, and a more rapid decline thereafter, with Kaplan-Meier analysis projecting 40% of patients will be blind by age 60. Scotopic ERG a- and b-wave amplitudes peaked in early childhood before declining with age, while the b/a ratio gradually decreased. In OCT, CFT showed a modest, significant age-related decrease. In contrast, CCV followed a non-linear age-related pattern, increasing to a peak in the third decade of life before progressively declining.
Conclusions:
In this XLRS cohort, most patients showed gradual structural and functional decline beginning in the second decade of life, suggesting an optimal therapeutic window within early adulthood. By applying CCV as a quantitative biomarker in a large-scale longitudinal setting for the first time, this study quantitatively characterized three-dimensional retinal remodeling and delineated age-related structural changes in XLRS. These findings refine the understanding of XLRS natural history and provide a robust framework for therapeutic evaluation and clinical trial design.
