Abstract：
UNASSIGNED: To report two cases masquerading as TORCH but eventually diagnosed with Enhanced S-cone Syndrome (ESCS).
UNASSIGNED: Descriptive case report.
UNASSIGNED: Case 1: A ten-month-old boy presented with high hypermetropia, strabismus and bilateral chorioretinal pigmented scars with a history of cat scratch of his mother during pregnancy. He was treated for suspected toxoplasma retinitis. Choroidal neovascular membranes (CNV) were diagnosed bilaterally and treated with intravitreal bevacizumab. Genetic testing showed homozygote mutation in NR2E3 gene. Case 2: A two-year old girl presented with bilateral high hypermetropia and strabismus. Funduscopy revealed extrafoveal chorioretinal lesions and surrounding subretinal fibrosis. An elevated titer of anti-toxocara IgG antibodies was detected and managed accordingly. LE CNV was diagnosed and treated with intravitreal bevacizumab. Genetic testing disclosed homozygote mutation in NR2E3.
UNASSIGNED: Ocular manifestations in ESCS can be reminiscent to TORCH. CNV may develop with an incidence of 15%. We report the youngest patient with ESCS-associated CNV.
UNASSIGNED: Descriptive case report.
UNASSIGNED: Case 1: A ten-month-old boy presented with high hypermetropia, strabismus and bilateral chorioretinal pigmented scars with a history of cat scratch of his mother during pregnancy. He was treated for suspected toxoplasma retinitis. Choroidal neovascular membranes (CNV) were diagnosed bilaterally and treated with intravitreal bevacizumab. Genetic testing showed homozygote mutation in NR2E3 gene. Case 2: A two-year old girl presented with bilateral high hypermetropia and strabismus. Funduscopy revealed extrafoveal chorioretinal lesions and surrounding subretinal fibrosis. An elevated titer of anti-toxocara IgG antibodies was detected and managed accordingly. LE CNV was diagnosed and treated with intravitreal bevacizumab. Genetic testing disclosed homozygote mutation in NR2E3.
UNASSIGNED: Ocular manifestations in ESCS can be reminiscent to TORCH. CNV may develop with an incidence of 15%. We report the youngest patient with ESCS-associated CNV.
摘要：
未经证实：报告2例伪装成TORCH但最终诊断为增强型S-锥综合征（ESCS）的病例。
未经评估：描述性病例报告。
未经批准：案例1：一个10个月大的男孩出现了远视，斜视和双侧脉络膜视网膜色素沉着疤痕，母亲在怀孕期间有猫抓的病史。他因怀疑弓形虫视网膜炎而接受治疗。双侧诊断脉络膜新生血管膜（CNV），并用玻璃体内贝伐单抗治疗。基因检测显示NR2E3基因纯合子突变。病例2：一名两岁女孩表现为双侧高度远视和斜视。Funduscopy显示了脉络膜视网膜病变和周围的视网膜下纤维化。检测到升高的抗弓形虫IgG抗体滴度，并相应地进行管理。诊断为LECNV并用玻璃体内贝伐单抗治疗。基因检测揭示了NR2E3中的纯合子突变。
UNASSIGNED：ESCS的眼部表现可以让人想起TORCH。CNV可以以15%的发生率发展。我们报告了ESCS相关CNV最年轻的患者。
未经评估：描述性病例报告。
未经批准：案例1：一个10个月大的男孩出现了远视，
UNASSIGNED：ESCS的眼部表现可以让人想起TORCH。
