Fineman_Retina (Color Atlas and Synopsis of Clinical Ophthal

ASTROCYTIC HAMARTOMA 253

Seizures (~90% incidence): myoclonic spasms lasting 10 to 50 seconds; tend to become grand mal type later in life. Mental retardation (~60% incidence) Associated Clinical Signs ● Ocular: occasionally, may produce vitreous hemorrhage, vitreous seeding, subretinal hemorrhage, or retinal detachment ● Systemic (additional manifestations of TS): Ungual fibromas, pleural cysts (leading to spon taneous pneumothorax), renal angiomyolipoma, cardiac rhabdomyoma, and hamartomas of the liver, thyroid, pancreas, or testis may occur. Differential Diagnosis

the venous phase. The tumor stains intensely and homogeneously in the late phases. ● B-scan ultrasonography: A larger, calcified lesion often appears as a discrete, oval, solid mass with a sharp anterior border. ● Neuroimaging: Subependymal hamarto mas, characteristic of TS, may be seen with computed tomography (CT) or magnetic resonance imaging (MRI). Prognosis and Management ● Most retinal astrocytic hamartomas are asymptomatic and do not require treatment. ● Patients diagnosed with TS may require systemic mTOR inhibitor treatment for giant cell astrocytomas. These inhibitors have been shown to shrink retinal astrocytic hamartomas. ● Associated exudative retinal detachments can often be treated with demarcating laser photocoagulation and vitrectomy. ● Anti–vascular endothelial growth factor (anti-VEGF) therapy may be required in rare cases of choroidal neovascularization (CNV). Subretinal fluid tends to be resolved after a short course of injections. ● Patients and family members should be examined regularly for manifestations of TS.

● Retinoblastoma (Rb) ● Myelinated nerve fibers ● Retinal granuloma ● Drusen of the optic disc ● Retinocytoma/retinoma ● Papillitis Diagnostic Evaluation

● Fluorescein angiography: The tumor appears relatively hypofluorescent in the arterial phase. Superficial fine blood vessels are seen during

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FIGURE 6-1. Astrocytic hamartomas in a teenage patient with tuberous sclerosis (TS). A peripheral astrocytic hamartoma can be observed with scattered depigmented chorioretinal lesions (indicated by arrows ). (Dr. David Reichstein, Oncology Service, Tennessee Retina PC, Nashville, TN.)