METHODS: This is an observational case report of a 56-year-old woman, with scattered multiple yellow-white retinal dots firstly diagnosed as fundus albipunctatus. Ten years after presentation, a deterioration in rod and cone responses in ff-ERG was detected, which allowed us to discard the first diagnostic hypothesis and proceed with a genetic testing.
RESULTS: Ten years after presentation, she presented a clear progression of the abnormal photoreceptor response with a cone and rod involvement in ff-ERG, which was not compatible with the previous suspicion of fundus albipunctatus. Six months later, genetic testing results together with the typical progression of atrophic patchy lesions in multimodal imaging allowed a certain diagnosis of L-ORD, caused by an already reported pathogenic variant in the C1QTNF5 gene (c.563C > T; p. Pro188 Leu).
CONCLUSIONS: We demonstrate the importance of the ff-ERG examination and the follow-up (or ERG and imaging repetition) in the differential diagnosis of an incipient L-ORD, which can be easily misdiagnosed in the early stages, before the appearance of the characteristic chorioretinal atrophy seen with the progression of this rare disease.
方法:这是一例56岁女性的观察性病例报告,首先诊断为眼底的分散的多个黄白色视网膜点。演讲十年后,检测到ff-ERG中棒和锥反应的恶化,这让我们放弃了第一个诊断假设,继续进行基因检测。
结果:演示后十年,她提出了一个清晰的进展异常的光感受器反应与锥和杆参与ff-ERG,这与先前对眼底的怀疑不符。六个月后,基因检测结果与多模态成像中萎缩性斑片状病变的典型进展相结合,可以对L-ORD进行一定的诊断,由已经报道的C1QTNF5基因的致病性变异引起(c.563C>T;p.Pro188Leu)。
结论:我们证明了ff-ERG检查和随访(或ERG和影像学重复)在早期L-ORD的鉴别诊断中的重要性,这在早期很容易被误诊,在这种罕见疾病进展中出现特征性脉络膜视网膜萎缩之前。