Karampelas Michael, Gardner Jessica, Holder Graham, Hardcastle Alison, Webster Andrew
Medical Retina Department, Moorfields Eye Hospital NHS Foundation Trust, 162 City Road, London, EC1V 2PD, UK,
Doc Ophthalmol. 2013 Dec;127(3):245-7. doi: 10.1007/s10633-013-9406-x. Epub 2013 Sep 19.
48,XXYY syndrome was first described in 1964 and approximately 100 cases have been reported in the literature. We report a case of 48,XXYY syndrome associated with high myopia and retinal dysfunction.
Case report.
A 28-year-old man was referred with progressive deterioration of visual acuity (VA) bilaterally during the previous 4-5 years. Physical examination revealed tall stature, large feet and irregular teeth. Refraction revealed high myopia with VA 6/60 bilaterally. Fundoscopy revealed a normal vitreous, lightly pigmented retinal pigment epithelium and choroid but no bone spicules or overt signs of retinal degeneration. His visual fields were constricted. Electrodiagnostic testing revealed bilateral generalised retinal dysfunction with severe macular involvement. During follow-up, his ophthalmic examination did not exhibit significant changes while VA was gradually deteriorating. Eight years after presentation, VA was 3/60 bilaterally; electrophysiological testing showed no further change. At that stage, his parents consented for DNA analysis in order to determine the cause of retinal dysfunction. Chromosomal analysis revealed an abnormal male karyotype with two X chromosomes and two Y chromosomes consistent with 48,XXYY syndrome.
The present report is the first to describe retinal dysfunction and high myopia with 48,XXYY syndrome. The severe macular and generalised retinal dysfunction in this case are not those associated with myopia and are in keeping with a primary retinal dysfunction. A coincidental finding cannot be excluded, but ERGs have not previously been reported in 48,XXYY syndrome, and retinal dystrophy may be a previously undiagnosed component of this syndrome.
48,XXYY综合征于1964年首次被描述，文献中已报道约100例。我们报告1例与高度近视和视网膜功能障碍相关的48,XXYY综合征病例。
病例报告。
一名28岁男性因过去4 - 5年双眼视力（VA）进行性恶化前来就诊。体格检查发现身材高大、脚大且牙齿不齐。验光显示双眼高度近视，视力均为6/60。眼底检查显示玻璃体正常，视网膜色素上皮和脉络膜色素轻度沉着，但未见骨针样改变或明显的视网膜变性体征。其视野缩小。电诊断测试显示双眼广泛性视网膜功能障碍，黄斑区严重受累。随访期间，其眼科检查无明显变化，但视力逐渐下降。就诊8年后，双眼视力均为3/60；电生理测试无进一步变化。在那个阶段，他的父母同意进行DNA分析以确定视网膜功能障碍的原因。染色体分析显示异常男性核型，有两条X染色体和两条Y染色体，符合48,XXYY综合征。
本报告首次描述了48,XXYY综合征伴视网膜功能障碍和高度近视。该病例中严重的黄斑区和广泛性视网膜功能障碍并非与近视相关的功能障碍，而是符合原发性视网膜功能障碍。不能排除巧合性发现，但此前48,XXYY综合征中尚未有视网膜电图（ERG）的报道，视网膜营养不良可能是该综合征先前未被诊断的一个组成部分。
