PDF(Pubmed)
Abstract：
BACKGROUND: Torpedo maculopathy (TM) is a rare, congenital condition characterized by an oval-shaped, chorioretinal lesion in the temporal macula of unknown etiology. To our knowledge, the longest reported follow-up of TM is 5 years. Herein we report 10 years of follow-up on two patients with TM to further characterize the long-term natural history of the condition.
METHODS: Two patients with torpedo maculopathy were examined at baseline and then again at 5 years and 10 years from baseline. Eyes were evaluated using color fundus photography, automated perimetry, fundus autofluorescence and spectral domain optical coherence tomography. Visual function of both patients remained stable throughout the observation period. In case 1, there was no evidence of change in lesion morphology over the 10 year observation period. Case 2 showed progression of cystic degeneration of the neurosensory retina within the torpedo lesion. Case 1 reported a history of supernumerary teeth and underwent gene sequence with deletion/duplication analyses of the APC gene but no clinically significant variants were detected.
CONCLUSIONS: Our findings support the position that TM is a nonprogressive condition with long-term stability of visual function. Genetic analysis of case 1 failed to detect any association with Gardner syndrome.
METHODS: Two patients with torpedo maculopathy were examined at baseline and then again at 5 years and 10 years from baseline. Eyes were evaluated using color fundus photography, automated perimetry, fundus autofluorescence and spectral domain optical coherence tomography. Visual function of both patients remained stable throughout the observation period. In case 1, there was no evidence of change in lesion morphology over the 10 year observation period. Case 2 showed progression of cystic degeneration of the neurosensory retina within the torpedo lesion. Case 1 reported a history of supernumerary teeth and underwent gene sequence with deletion/duplication analyses of the APC gene but no clinically significant variants were detected.
CONCLUSIONS: Our findings support the position that TM is a nonprogressive condition with long-term stability of visual function. Genetic analysis of case 1 failed to detect any association with Gardner syndrome.
摘要：
背景：鱼雷黄斑病（TM）是一种罕见的，以椭圆形为特征的先天性疾病，病因不明的颞叶黄斑脉络膜视网膜病变。据我们所知,据报道，TM的最长随访时间为5年。在此，我们报告了两名TM患者的10年随访，以进一步表征该疾病的长期自然史。
方法：在基线时对两名鱼雷黄斑病变患者进行检查，然后在基线后5年和10年再次检查。使用彩色眼底照相评估眼睛，自动视野检查,眼底自发荧光和谱域光学相干层析成像。在整个观察期间，两名患者的视觉功能保持稳定。在病例1中，在10年的观察期内，没有证据表明病变形态发生了变化。病例2显示鱼雷病变内神经感觉视网膜囊性变性的进展。病例1报告了多余牙齿的病史，并进行了基因序列和APC基因的缺失/重复分析，但未检测到临床上有意义的变异。
结论：我们的研究结果支持TM是一种非进行性疾病，具有视觉功能的长期稳定性。病例1的遗传分析未能检测到与Gardner综合征的任何关联。
方法：在基线时对两名鱼雷黄斑病变患者进行检查，然后在基线后5年和10年再次检查。使用彩色眼底照相评估眼睛，自动视野检查,眼底自发荧光和谱域光学相干层析成像。在整个观察期间，两名患者的视觉功能保持稳定。在病例1中，在10年的观察期内，没有证据表明病变形态发生了变化。病例2显示鱼雷病变内神经感觉视网膜囊性变性的进展。病例1报告了多余牙齿的病史，并进行了基因序列和APC基因的缺失/重复分析，但未检测到临床上有意义的变异。
结论：我们的研究结果支持TM是一种非进行性疾病，具有视觉功能的长期稳定性。病例1的遗传分析未能检测到与Gardner综合征的任何关联。
