Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa

Michael Kinori¹, Iris Moroz^1,2, Ygal Rotenstreich^1,2, Hagith Yonath^2,3, Ido Didi Fabian¹, Vicktoria Vishnevskia-Dai^1,2
1Department of Ophthalmology, Chaim Sheba Medical Center, Tel Hashomer, Israel; ²Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; ³Danek Gertner Genetic Institute and Internal Medicine A, Chaim Sheba Medical Center, Tel Hashomer, Israel

Abstract: Retinal astrocytic hamartomas are benign intraocular tumors classically associated with phacomatoses. Their appearance in isolation is rare. An association between astrocytic hamartomas and retinitis pigmentosa (RP) has been described previously, but controversy still exists regarding the precise nature of these lesions in RP patients. The authors present a case report of a 24-year-old male with RP and multiple bilateral lesions clinically consistent with retinal astrocytic hamartomas. Optical coherence tomography revealed multiple bilateral hyper-reflective intraretinal masses, loss of retinal architecture, intralesional calcifications, and prominent optical posterior shadowing. Comprehensive systemic evaluation was negative for phacomatoses. However, given that a biopsy was not performed, the diagnosis of optic nerve head drusen could not be excluded.

Keywords: giant drusen, optic nerve head drusen, optical coherence tomography, intraocular tumor