PDF(Pubmed)
Abstract：
BACKGROUND: 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.
METHODS: 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.
METHODS: 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.
METHODS: Additionally an B-scan ultrasonography, static and kinetic perimetry were performed.
RESULTS: 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.
CONCLUSIONS: 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.
METHODS: 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.
METHODS: 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.
METHODS: Additionally an B-scan ultrasonography, static and kinetic perimetry were performed.
RESULTS: 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.
CONCLUSIONS: 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.
摘要：
背景：视网膜星形细胞错构瘤（RAH）是一种罕见的良性肿瘤，起源于位于视网膜神经细胞层中的星形细胞。常见于结节性硬化症或神经纤维瘤病患者，很少作为孤立的视网膜肿块。这种病变通常无症状；然而，这些位于视神经区域，黄斑,或表现出渗出的特征，新生血管形成可能会出现视觉障碍和视力下降。
方法：我们介绍了一个罕见的15岁男孩，没有明显的既往病史，其视觉障碍的原因被证明是孤立的RAH。
方法：根据眼底彩色图像的结果，荧光素血管造影以及磁共振成像的分析，患者被诊断为RAH.
方法：此外，B超检查，进行了静态和动态视野检查。
结果：胃镜检查显示单侧淡黄色，界限分明,桑树样病变，基部宽，位于鼻下象限，视神经的动力学。病人接受了神经学检查,儿科,和排除其他病理发现或潜在系统性疾病的遗传评估。
结论：RAH的预后总体良好，然而,病变需要定期眼科随访以排除肿瘤的进展.患者7年随访史无肿瘤生长证据,局部或总体恶化的情况。
方法：我们介绍了一个罕见的15岁男孩，没有明显的既往病史，其视觉障碍的原因被证明是孤立的RAH。
方法：根据眼底彩色图像的结果，荧光素血管造影以及磁共振成像的分析，患者被诊断为RAH.
方法：此外，B超检查，进行了静态和动态视野检查。
结果：胃镜检查显示单侧淡黄色，界限分明,桑树样病变，基部宽，位于鼻下象限，视神经的动力学。病人接受了神经学检查,儿科,和排除其他病理发现或潜在系统性疾病的遗传评估。
结论：RAH的预后总体良好，然而,病变需要定期眼科随访以排除肿瘤的进展.患者7年随访史无肿瘤生长证据,局部或总体恶化的情况。
