American journal of ophthalmology · 2026
Unilateral Retinal Pigment Epithelium Dysgenesis-The Expanded Spectrum and New Insights From Multimodal Imaging.
СтатьяМногоцентровое исследованиеНазвание и аннотация: Перевод в очереди
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Trinco Andrea, Romano Francesco, Matteucci Martina, Preziosa Chiara, De Simone Luca, Cozzi Mariano, Fung Adrian T, Cimino Luca, Invernizzi Alessandro, Staurenghi Giovanni, Pellegrini Marco
Аннотация
PURPOSE: To describe the clinical spectrum, novel imaging features, and associations of unilateral retinal pigment epithelium dysgenesis (URPED), expanding its phenotypic and pathogenetic framework.
DESIGN: Retrospective, longitudinal, multicenter case series.
SUBJECTS: Ten eyes of ten patients with URPED and two eyes with combined hamartoma of the retina and retinal pigment epithelium (RPE) exhibiting URPED-like changes, examined between 2011 and 2025 at Luigi Sacco Hospital (Milan, Italy) and Macquarie University Hospital (Sydney, Australia).
METHODS: Comprehensive multimodal imaging was performed, including color fundus photography, near-infrared reflectance, short-wavelength fundus autofluorescence (SW-FAF), fluorescein and indocyanine green angiography (FA/ICGA), and spectral-domain optical coherence tomography (SD-OCT). Lesions were classified as overt, when diagnosis was achievable on noninvasive imaging alone, or covert, when ICGA was required. Near-infrared reflectance, SW-FAF, FA, and ICGA patterns were correlated with structural OCT findings. Lesion area was manually measured at baseline on SW-FAF and ICGA, and at last follow-up on SW-FAF.
MAIN OUTCOME MEASURES: URPED phenotypic patterns; multimodal imaging characteristics; frequency of associated hamartomatous lesions and other complications.
RESULTS: Seven eyes (70%) were classified as overt URPED, displaying scalloped (n = 4), mottled (n = 1), or mixed (n = 2) SW-FAF patterns; three eyes (30%) were categorized as covert URPED, detectable only on ICGA. The classic inverted SW-FAF/FA pattern occurred exclusively in overt scalloped or mixed lesions. SD-OCT consistently demonstrated Bruch membrane-RPE separation with overlying "sawtooth" changes (10/10, 100%). Evidence of iRORA/cRORA was present in six eyes (60%), and choroidal caverns in six eyes (60%). Hamartomatous lesions were identified in four eyes (40%), three retinal capillary hemangiomas, and one choroidal osteoma; all topographically colocalizing with URPED. Choroidal neovascularization developed in four eyes (40%), all responding favorably to anti-VEGF therapy. Lesion size remained largely stable over a median follow-up of 27.5 months, with excellent intergrader reproducibility (intraclass correlation coefficient = 0.98-0.99).
CONCLUSIONS: URPED encompasses a broader phenotypic continuum than previously recognized, ranging from overt to covert forms unified by Bruch membrane-RPE dysgenesis. The frequent coexistence with hamartomatous lesions supports a shared developmental origin. Multimodal imaging is essential for diagnosis and phenotypic classification, with ICGA playing a pivotal role in detecting covert forms.
DESIGN: Retrospective, longitudinal, multicenter case series.
SUBJECTS: Ten eyes of ten patients with URPED and two eyes with combined hamartoma of the retina and retinal pigment epithelium (RPE) exhibiting URPED-like changes, examined between 2011 and 2025 at Luigi Sacco Hospital (Milan, Italy) and Macquarie University Hospital (Sydney, Australia).
METHODS: Comprehensive multimodal imaging was performed, including color fundus photography, near-infrared reflectance, short-wavelength fundus autofluorescence (SW-FAF), fluorescein and indocyanine green angiography (FA/ICGA), and spectral-domain optical coherence tomography (SD-OCT). Lesions were classified as overt, when diagnosis was achievable on noninvasive imaging alone, or covert, when ICGA was required. Near-infrared reflectance, SW-FAF, FA, and ICGA patterns were correlated with structural OCT findings. Lesion area was manually measured at baseline on SW-FAF and ICGA, and at last follow-up on SW-FAF.
MAIN OUTCOME MEASURES: URPED phenotypic patterns; multimodal imaging characteristics; frequency of associated hamartomatous lesions and other complications.
RESULTS: Seven eyes (70%) were classified as overt URPED, displaying scalloped (n = 4), mottled (n = 1), or mixed (n = 2) SW-FAF patterns; three eyes (30%) were categorized as covert URPED, detectable only on ICGA. The classic inverted SW-FAF/FA pattern occurred exclusively in overt scalloped or mixed lesions. SD-OCT consistently demonstrated Bruch membrane-RPE separation with overlying "sawtooth" changes (10/10, 100%). Evidence of iRORA/cRORA was present in six eyes (60%), and choroidal caverns in six eyes (60%). Hamartomatous lesions were identified in four eyes (40%), three retinal capillary hemangiomas, and one choroidal osteoma; all topographically colocalizing with URPED. Choroidal neovascularization developed in four eyes (40%), all responding favorably to anti-VEGF therapy. Lesion size remained largely stable over a median follow-up of 27.5 months, with excellent intergrader reproducibility (intraclass correlation coefficient = 0.98-0.99).
CONCLUSIONS: URPED encompasses a broader phenotypic continuum than previously recognized, ranging from overt to covert forms unified by Bruch membrane-RPE dysgenesis. The frequent coexistence with hamartomatous lesions supports a shared developmental origin. Multimodal imaging is essential for diagnosis and phenotypic classification, with ICGA playing a pivotal role in detecting covert forms.