ArticleTranslational vision science & technology2026
Retinal Pigment Epithelium Changes in Pediatric Combined Hamartoma of the Retina and Retinal Pigment Epithelium: Wide-Field Swept-Source OCT Findings.
Article in Translational vision science & technology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
Purpose: To characterize changes in the retinal pigment epithelium (RPE) in pediatric combined hamartoma of the retina and RPE (CHRRPE) using wide-field swept-source optical coherence tomography (SS-OCT) and to identify factors associated with RPE involvement. Methods: We conducted a retrospective study of children with CHRRPE diagnosed between 2018 and 2023 at Zhongshan Ophthalmic Center and imaged with wide-field SS-OCT. RPE alterations were defined using OCT features and classified as RPE deformation without discontinuity or RPE disruption with secondary changes. Factors associated with RPE involvement were evaluated using multivariable logistic regression analyses. Results: Forty-one eyes from 38 children (21 boys; median age, 7 years) were included. OCT showed preretinal fibrosis in 21 of 41 eyes (51%), mini-folds in 38 of 41 eyes (93%), and maxi-folds in 32 of 41 (78%). RPE involvement was detected in 11 of 41 eyes (27%), including RPE-originated vertical striae (8/41 [20%]), outer retinal hyper-reflective pigment clumps (7/41 [17%]), RPE protrusion (6/41 [15%]), RPE rupture (5/41 [12%]), and choroidal neovascularization (5/41 [12%]). RPE alterations occurred in all peripheral lesions (3/3), 50% of peripapillary lesions (3/6), and 16% of macular lesions (5/32). Multivariable analysis indicated extramacular location (odds ratio, 11.29; 95% confidence interval, 1.45-87.81; P = 0.021) and preretinal fibrosis (odds ratio, 7.08; 95% confidence interval, 1.14-44.00; P = 0.036) were associated with RPE involvement. Conclusions: In pediatric CHRRPE, RPE involvement was not uncommon and was associated with extramacular location and preretinal fibrosis. Wide-field SS-OCT may help to identify structural features in pediatric CHRRPE. Translational Relevance: Characterizing swept-source optical coherence tomography patterns in children with combined hamartoma of the retina and retinal pigment epithelium links retinal pigment epithelium damage to inner retinal contraction and supports risk stratification and follow-up planning.
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