Documenta ophthalmologica. Advances in ophthalmology · 2026
Bilateral retinal astrocytic hamartomas in retinitis pigmentosa: two case reports and systematic review.
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Zhai Ru-Yi, Duan Cong, Zong Yuan, Chang Qing, Xu Ge-Zhi, Gao Feng-Juan
Аннотация
PURPOSE: To report two novel cases of retinitis pigmentosa (RP) associated with bilateral retinal astrocytic hamartomas (RAHs) and to conduct a systematic review of this rare association.
DESIGN: Retrospective observational case series and literature review.
METHODS: We describe the clinical, multimodal imaging, and genetic findings of two male patients with genetically confirmed RP (RP2 and CDH23 mutations) and bilateral peripapillary RAHs. A comprehensive review of all previously reported cases of RP with RAH was performed to summarize demographic, clinical, and imaging characteristics.
RESULTS: Both patients presented with advanced RP and characteristic mulberry-like, calcified lesions at the optic disc margins. Optical coherence tomography angiography (OCTA) demonstrated intrinsic vascularization within the lesions, a key feature distinguishing RAH from optic disc drusen. Systemic and genetic evaluations ruled out phakomatoses. Literature review identified 10 prior cases. Analysis of all 12 cases (including ours) revealed a strong male predominance (10:2), with RAHs typically being bilateral (9/12), peripapillary (11/12), and often multifocal (9/12). Follow-up data showed lesion progression in half of the cases. Genetic heterogeneity was noted, with our cases expanding the mutational spectrum to include RP2 and CDH23.
CONCLUSIONS: RAH is a rare but important finding in RP, most commonly presenting as bilateral, peripapillary lesions in male patients. Multimodal imaging, particularly OCTA confirmation of intralesional flow, is crucial for accurate diagnosis and differentiation from drusen. Recognition of this association can prevent misdiagnosis and guide appropriate long-term monitoring for potential lesion progression.
DESIGN: Retrospective observational case series and literature review.
METHODS: We describe the clinical, multimodal imaging, and genetic findings of two male patients with genetically confirmed RP (RP2 and CDH23 mutations) and bilateral peripapillary RAHs. A comprehensive review of all previously reported cases of RP with RAH was performed to summarize demographic, clinical, and imaging characteristics.
RESULTS: Both patients presented with advanced RP and characteristic mulberry-like, calcified lesions at the optic disc margins. Optical coherence tomography angiography (OCTA) demonstrated intrinsic vascularization within the lesions, a key feature distinguishing RAH from optic disc drusen. Systemic and genetic evaluations ruled out phakomatoses. Literature review identified 10 prior cases. Analysis of all 12 cases (including ours) revealed a strong male predominance (10:2), with RAHs typically being bilateral (9/12), peripapillary (11/12), and often multifocal (9/12). Follow-up data showed lesion progression in half of the cases. Genetic heterogeneity was noted, with our cases expanding the mutational spectrum to include RP2 and CDH23.
CONCLUSIONS: RAH is a rare but important finding in RP, most commonly presenting as bilateral, peripapillary lesions in male patients. Multimodal imaging, particularly OCTA confirmation of intralesional flow, is crucial for accurate diagnosis and differentiation from drusen. Recognition of this association can prevent misdiagnosis and guide appropriate long-term monitoring for potential lesion progression.