Bilateral presumed astrocytic hamartomas in a patient with retinitis pigmentosa

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.

Unilateral giant peripapillary drusen and retinal drusenoid deposits in a case of X-linked retinoschisis

“…Giant drusen have been noted in 50% of cases with phthisis bulbi, which may develop after 4 weeks of RD and become more prominent in the following 2–3 months 4. Peripapillary lesions such as those seen in our case have been reported as presumed astrocytic hamartoma (AH) in RP 5. Both AH and ODD may be associated with calcification and autofluorescence.…”

Ophthalmic manifestations of tuberous sclerosis: a review

“…Retinal hamartomas can occur in neurofibromatosis and have also been described in cases of retinitis pigmentosa . Retinoblastoma should be considered in the differential .…”

Bilateral noncalcified astrocytic hamartomas in retinitis pigmentosa: Multimodal imaging evaluation over 8 years of follow-up

“…Astrocytic hamartomas of the optic disk are usually associated with certain types of phakomatoses such as tuberous sclerosis or neurofibromatosis, nevertheless few cases associated to RP have also been reported. [5][6][7] In some instances, the calcified forms are difficult to distinguish from optic nerve head drusen, 7 but other differential diagnoses should also be mentioned as retinoblastomas, meningiomas, metastatic tumors, optic disk hemangiomas, and combined hamartomas of the retina and RPE. 8 In this case, the lesions appeared as nodular well-defined yellowish-white mass bilaterally, and the absence of an intrinsic vascularization was ascertained by a complete multimodal imaging evaluation.…”