Uncommon association: Bilateral astrocytic hamartoma in retinitis pigmentosa

Astrocytic hamartomas are benign glial tumors originating from the retinal nerve fiber layer. While commonly associated with tuberous sclerosis and neurofibromatosis, they can also coexist with retinitis pigmentosa (RP).
A 48-year-old RP patient presented for a routine examination with no systemic complaints. Best-corrected visual acuity was 0.8 bilaterally. Fundus examination revealed bone spicules, vascular attenuation, and elevated, nodular, cream-colored masses over both optic discs. Fundus autofluorescence showed hyperautofluorescent masses, while B-scan ultrasonography revealed hyperechogenicity with posterior shadowing. Optical coherence tomography angiography demonstrated a mass with moth-eaten cavities. Neurology and nephrology evaluations found no systemic pathology. Based on these findings, the lesions were suspected to be astrocytic hamartomas. No changes were observed over one year of follow-up.
The coexistence of RP and astrocytic hamartomas is rare. When optic disc masses are detected in RP patients, this possibility should be considered, and differential diagnoses should include optic disc drusen, meningioma, hemangioma, and papilledema.

Keywords: Astrocytic hamartoma, retinitis pigmentosa, optic nerve head drusen.