Mehta M C, Katsumi O, Shih V E, Hirose T
Eye Research Institute, Harvard Medical School.
Acta Ophthalmol (Copenh). 1991 Dec;69(6):810-4. doi: 10.1111/j.1755-3768.1991.tb02067.x.
A 5-year-old Asian-Indian female presented with bilateral cobblestone-like peripheral lesions, a single area of chorioretinal atrophy, infero-nasal to the disc, in her right eye and a non-recordable single flash ERG. Serum ornithine level was assayed at 841 mumol/l, ten times normal levels, and a diagnosis of gyrate atrophy, due to ornithine aminotransferase deficiency was made. The patient was refractory to any form of therapy and her clinical lesions spread rapidly in both eyes, showing both centrifugal and centripetal spread in her right eye. A rapid deterioration in her psychophysical tests was also seen over the 28 months follow-up. The presence of cobblestone-like peripheral lesions in a child should alert the clinician to the possibility of gyrate atrophy, and the rapid spread of the chorioretinal lesions coupled with non-recordable single flash ERGs, in a young patient may suggest a much poorer prognosis.
一名5岁的亚洲印度裔女性，双眼出现鹅卵石样周边病变，右眼视盘鼻下有一个脉络膜视网膜萎缩区，右眼单次闪光视网膜电图不可记录。检测血清鸟氨酸水平为841μmol/L，是正常水平的10倍，诊断为由于鸟氨酸转氨酶缺乏导致的回旋状萎缩。该患者对任何形式的治疗均无效，其临床病变在双眼迅速蔓延，右眼呈现离心和向心扩散。在28个月的随访中，其心理物理学测试也迅速恶化。儿童出现鹅卵石样周边病变应提醒临床医生注意回旋状萎缩的可能性，年轻患者脉络膜视网膜病变的迅速蔓延以及单次闪光视网膜电图不可记录可能提示预后差得多。
