Abstract：
OBJECTIVE: The purpose of this study was to describe and diagnose the difficulty in a long-term follow-up (eleven years) patient with a very early presentation of late-onset retinal degeneration (L-ORD) and the significance of electrophysiological examinations and follow-up in assessing undiagnosed inherited retinal diseases.
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.
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.
摘要：
目的：这项研究的目的是描述和诊断长期随访（11年）患者迟发性视网膜变性（L-ORD）的困难，以及电生理检查和随访在评估未诊断的遗传性视网膜疾病中的意义。
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。
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。
