Rationale: Retinal astrocytic hamartoma (RAH) is a rare benign tumor originating from astrocytic cells located in the neural cell layer of the retina. It is commonly seen in patients with phakomatoses such as tuberous sclerosis complex or neurofibromatosis, rarely as an isolated retinal mass. This lesion is usually asymptomatic; however, these located in the area of the optic nerve, macula, or exhibiting the features of exudation, neovascularization may present visual disturbances and decreased visual acuity.
Patient concerns: We present a rare case of a 15-year-old boy, with no significant past medical history, whose cause of visual disturbances turned out to be isolated RAH.
Diagnoses: Based on the results of color images of the fundus, fluorescein angiography as well as the analysis of magnetic resonance imaging, the patient was diagnosed with RAH.
Interventions: Additionally an B-scan ultrasonography, static and kinetic perimetry were performed.
Outcomes: Fundoscopic examination showed a unilateral yellowish, well-circumscribed, mulberry-like lesion with a wide base, located in inferosnasal quadrant, in the vinicity of the optic nerve. The patient underwent neurological, pediatric, and genetic evaluations that excluded other pathological findings or underlying systemic disease.
Lessons: The prognosis for RAH is generally good, however, the lesion requires regular ophthalmologic follow-up to rule out the progression of the tumor mass. The patient 7-year follow-up history is without evidence of tumor growth, local or general deterioration of the condition.
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