García Caride Sara, López Guajardo Lorenzo, Donate López Juan
Department of Ophthalmology, Hospital Clínico San Carlos, Madrid, Spain.
Am J Ophthalmol Case Rep. 2021 Feb 4;21:101028. doi: 10.1016/j.ajoc.2021.101028. eCollection 2021 Mar.
Case report of a Goldmann-Favre/Enhanced S Cone syndrome (GFS/ESCS) misdiagnosed for 30 years.
Clinical case, the patient had been experiencing with poor nocturnal visual acuity since childhood. The fundus examination showed extensive areas of peripheral chorioretinal atrophy with posterior demarcation borders, and a clinical diagnosis of gyrate atrophy was established, although normal levels of ornithine should have made this diagnosis doubtful. 30 years later it was reassessed with electrophysiologic and genetic studies and diagnosed as Goldman-Favre/Enhanced S Cone Syndrome (GFS/ESCS).
High phenotypic variability of GFS/ESCS makes it difficult to distinguish clinically from diseases such as retinitis pigmentosa, congenital retinoschisis, and gyrate atrophy. Electrophysiology and genetic studies aid in diagnosis. GFS/ESCS is a clinical diagnosis and should be suspected before molecular test. We present a novel mutation for this disease.
报告一例被误诊30年的戈德曼-法夫尔/增强型S锥体综合征（GFS/ESCS）病例。
临床病例，患者自幼夜间视力不佳。眼底检查显示周边脉络膜视网膜萎缩广泛，有后界边界，尽管鸟氨酸水平正常，仍诊断为回旋状萎缩。30年后，通过电生理和基因研究重新评估，诊断为戈德曼-法夫尔/增强型S锥体综合征（GFS/ESCS）。
GFS/ESCS的高表型变异性使其在临床上难以与色素性视网膜炎、先天性视网膜劈裂症和回旋状萎缩等疾病区分开来。电生理和基因研究有助于诊断。GFS/ESCS是一种临床诊断，在进行分子检测之前就应怀疑。我们报告了该疾病的一种新突变。
