Lee Helena, Kumar Periyasamy, Deane James
Department of Cardiovascular Sciences, Univeristy of Leicester, Leicester, UK.
BMJ Case Rep. 2012 Jul 19;2012:bcr0320126022. doi: 10.1136/bcr-03-2012-6022.
A 47-year-old woman presented with bilateral gradual loss of vision, ocular discomfort and seeing a black shadow in her right visual field over 6 months duration. Her medical history was extensive including: developmental delay, pseudohypoparathyroidism, hypertension, spinal stenosis, epilepsy and suspected idiopathic intracranial hypertension. Ocular examination revealed choroidal elevation in both eyes, which were highly ecogenic on ecography and confirmed to be calcifications of choroids on CT scan in her both eyes. She had subnormal vision and reduced colour vision in her both eyes. Electrodiagostic studies suggested rod dysfunction. She had typical features of Albright's hereditary dystrophy and was positive for the GNAS 1 mutation. She is currently being monitored by ophthalmologlists and is also under a medical team undergoing further assessment with regard to her treatment.
一名47岁女性，在6个月的时间里出现双侧视力逐渐丧失、眼部不适以及右视野出现黑影。她有广泛的病史，包括：发育迟缓、假性甲状旁腺功能减退、高血压、椎管狭窄、癫痫以及疑似特发性颅内高压。眼部检查发现双眼脉络膜隆起，眼部超声显示为高回声，CT扫描证实双眼脉络膜有钙化。她双眼视力低于正常且色觉减退。电诊断研究提示视杆细胞功能障碍。她具有奥尔布赖特遗传性骨营养不良的典型特征，GNAS 1基因突变检测呈阳性。她目前由眼科医生进行监测，并且在一个医疗团队的关注下接受进一步的治疗评估。
