视网膜星形胶质错构瘤（RAH）是一种罕见的良性肿瘤，起源于视网膜神经细胞层中的星形胶质细胞。在患有污秽症如结节性硬化症或神经纤维瘤病例中常见，但很少见作为孤立的视网膜肿块。这种病变通常无症状，然而，如果位于视神经、黄斑区或表现为渗出和新生血管特征，则可能导致视觉障碍和视力下降。我们介绍了一个罕见病例，一个无显著病史的15岁男孩，他的视觉障碍的原因被确认为孤立性的RAH。 根据眼底彩色图像、荧光素血管造影以及磁共振成像分析结果，患者被诊断为RAH。此外，进行了B超声检查、静态和动态视野检查。眼底检查显示单侧黄色的、清晰分界、桑梓似的病变，底部宽，位于视神经稍外侧四分之一的下部区域。该患者接受了神经科、儿科和遗传学评估，排除了其他病理发现或潜在全身性疾病。 RAH的预后通常良好，但需要定期眼科随访以排除肿瘤病变的进展。患者7年的随访历史显示没有肿瘤生长的证据，病情局部和全身没有恶化。 Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.

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.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.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.Additionally an B-scan ultrasonography, static and kinetic perimetry were performed.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.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.Copyright © 2023 the Author(s). Published by Wolters Kluwer Health, Inc.