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PURPOSE: To date, there is no standard treatment regimen for carbonic anhydrase inhibitors (CAIs) in X-linked retinoschisis (XLRS) patients. This retrospective study aims to evaluate the efficacy of CAIs on visual acuity and cystoid fluid collections (CFC) in XRLS patients in Dutch and Belgian tertiary referral centers. DESIGN: Retrospective cohort study. PARTICIPANTS: Forty-two patients with XLRS. METHODS: In total, 42 patients were enrolled. To be included, patients had to have previous treatment with an oral CAI (acetazolamide), a topical CAI (brinzolamide/dorzolamide), or a combination of an oral and a topical CAI for at least 4 consecutive weeks. We evaluated the effect of the CAI on best-corrected visual acuity (BCVA) and central foveal thickness (CFT) on OCT. MAIN OUTCOME MEASURES: Central foveal thickness and BCVA. RESULTS: The median age at the baseline visit of the patients in this cohort study was 14.7 (range, 43.6) years, with a median (interquartile range [IQR]) follow-up period of 4.0 (2.2-5.2) years. During the follow-up period, 25 patients were treated once with an oral CAI (60%), 24 patients were treated once with a topical CAI (57%), and 11 patients were treated once with a combination of both topical and oral CAI (26%). We observed a significant reduction of CFT for oral CAI by 14.37 µm per 100 mg per day (P < 0.001; 95% confidence interval [CI], -19.62 to -9.10 µm) and for topical CAI by 7.52 µm per drop per day (P = 0.017; 95% CI, -13.67 to -1.32 µm). The visual acuity changed significantly while on treatment with oral CAI by -0.0059 logMAR per 100 mg (P = 0.008; 95% CI, -0.010 to -0.0013 logMAR). Seven patients (17%) had side effects leading to treatment discontinuation. CONCLUSIONS: Our data indicate that treatment with (oral) CAI may be beneficial for short-term management of CFC in patients with XLRS. Despite a significant reduction in CFT, the change in visual acuity was modest and not of clinical significance. Nonetheless, the anatomic improvement of the central retina in these patients may be of value to create an optimal retinal condition for future potential treatment options such as gene therapy. FINANCIAL DISCLOSURE(S): The authors have no proprietary or commercial interest in any materials discussed in this article.
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The aim of this study is, firstly, to create a population-based 3D head shape model for the 0 to 2-year-old subjects to describe head shape variability within a normal population and, secondly, to test a combined normal and sagittal craniosynostosis (SAG) population model, able to provide surgical outcome assessment. 3D head shapes of patients affected by non-cranial related pathologies and of SAG patients (pre- and post-op) were extracted either from head CTs or 3D stereophotography scans, and processed. Statistical shape modelling (SSM) was used to describe shape variability using two models - a normal population model (MODEL1) and a combined normal and SAG population model (MODEL2). Head shape variability was described via principal components analysis (PCA) which calculates shape modes describing specific shape features. MODEL1 (n = 65) mode 1 showed statistical correlation (p < 0.001) with width (125.8 ± 13.6 mm), length (151.3 ± 17.4 mm) and height (112.5 ± 11.1 mm) whilst mode 2 showed correlation with cranial index (83.5 mm ± 6.3 mm, p < 0.001). The remaining 9 modes showed more subtle head shape variability. MODEL2 (n = 159) revealed that post-operative head shape still did not achieve full shape normalization with either spring cranioplasty or total calvarial remodelling. This study proves that SSM has the potential to describe detailed anatomical variations in a paediatric population.
