Chan L Y, Balasubramaniam S, Sunder R, Jamalia R, Karunakar T V N, Alagaratnam J
Hospital Kuala Lumpur, Ophthalmology Department, Jalan Pahang, Kuala Lumpur, Wilayah Persekutuan, 50586, Malaysia.
Med J Malaysia. 2011 Dec;66(5):497-8.
We present a rare case of Tay-Sachs disease with retinal 'cherry-red spots' in a 19-month-old Malay child. Molecular genetic studies confirmed the diagnosis. The case highlights that 'cherry-red spot' is a useful clinical clue in Tay-Sachs disease and several other lysosomal storage disorders. It serves as an ideal illustration of the eye as a window to inborn error of metabolism.
我们报告一例19个月大的马来儿童患伴有视网膜“樱桃红斑”的罕见泰-萨克斯病病例。分子遗传学研究确诊了该病例。该病例突出表明，“樱桃红斑”是泰-萨克斯病及其他几种溶酶体贮积症的有用临床线索。它是眼睛作为代谢先天性缺陷之窗口的一个理想例证。
