Bilateral retinal astrocytic hamartomas in retinitis pigmentosa: two case reports and systematic review.
Ru-Yi Zhai, Cong Duan, Yuan Zong et al.
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Case in brief
Two male patients with genetically confirmed retinitis pigmentosa (RP) presented with advanced disease and bilateral peripapillary retinal astrocytic hamartomas (RAHs). Characteristic mulberry-like, calcified lesions were observed at the optic disc margins, with optical coherence tomography angiography revealing intrinsic vascularization within the lesions. Systemic and genetic evaluations excluded phakomatoses, and follow-up indicated lesion progression in half of the cases.
What made this case unusual
The presence of bilateral retinal astrocytic hamartomas in patients with retinitis pigmentosa is a rare association, with this report expanding the mutational spectrum to include RP2 and CDH23 mutations.
Diagnostic / clinical pearl
Multimodal imaging, especially optical coherence tomography angiography, is essential for distinguishing retinal astrocytic hamartomas from optic disc drusen in patients with retinitis pigmentosa.
Why it matters
Recognizing the association between retinitis pigmentosa and retinal astrocytic hamartomas can prevent misdiagnosis and ensure appropriate long-term monitoring for potential lesion progression.