未经证实:报告患有Stargardt病(STGD1)且ABCA4基因内含子突变的患者。
未经证实:一名69岁女性患者到诊所就诊,抱怨进行性视力丧失。对于在右眼5'和左眼3'处计数手指的最佳矫正视力,眼科评估非常出色。影像学显示中央黄斑深度广泛萎缩,上皮色素增生,和右眼多灶性萎缩的其他区域。此外,黄斑的眼底自发荧光成像显示,双眼的中央低自发荧光,双侧扩张至周边.全视野视网膜电图显示棒反应正常,随着锥体反应的减少,双边。基因检测对变异c.5714+5G>A的ABCA4基因中的纯合内含子突变呈阳性。
未经证实:由于推测ABCA4基因轻度或中度突变而导致的STGD1患者可能具有更严重的疾病表现和进展。基于此,首次报道了波多黎各人STGD1病患者的基因型-表型相关性,必须对所有波多黎各患者进行基因分型.
UNASSIGNED: To report on a patient with Stargardt disease (STGD1) and with an intronic mutation in the ABCA4 gene.
UNASSIGNED: A 69-year-old female patient presented to the clinic complaining of progressive vision loss. The ophthalmic evaluation was remarkable for a best corrected visual acuity of counting fingers at 5\' in the right eye and 3\' in the left eye. Imaging revealed deep extensive atrophy of the central macula, epithelial pigment hyperplasia, and other areas of multifocal atrophy in the right eye. Furthermore, fundus autofluorescence imaging of the macula showed central hypoautofluorescence with bilateral expansion to the periphery in both eyes. A full-field electroretinogram showed a normal rod response, with decreased cone response, bilaterally. Genetic testing was positive for a homozygous intronic mutation in the ABCA4 gene of the variant c.5714+5G>A.
UNASSIGNED: Patients with STGD1 due to presumed mild or moderate mutations in the ABCA4 gene may have a more severe presentation and progression of the disease. Based on this, the first report of a genotype-phenotype correlation in a Puerto Rican patient with STGD1 disease, genotyping all Puerto Rican patients is warranted.