Fielder A R, Garner A, Chambers T L
Br J Ophthalmol. 1980 Oct;64(10):782-8. doi: 10.1136/bjo.64.10.782.
The clinical and pathological findings of a 6-month-old infant with primary oxalosis, who died in renal failure, are presented. The oxalate crystalline deposition in the retinal pigment epithelium corresponded to the flecked retinopathy observed ophthalmoscopically. The difficulties in establishing a precise biochemical diagnosis are discussed and the relevant ophthalmic literature is reviewed.
本文报告了一名患有原发性草酸血症的6个月大婴儿的临床和病理检查结果,该婴儿死于肾衰竭。视网膜色素上皮中的草酸盐晶体沉积与检眼镜观察到的点状视网膜病变相符。文中讨论了建立精确生化诊断的困难,并回顾了相关的眼科文献。