赫尔曼斯基-普德拉克综合征患者的色觉
Color vision in patients with the Hermansky-Pudlak syndrome.
作者信息
Rodríguez Julio A, Blasini Marino, Blasini Marino, Townsend William, Izquierdo Natalio J
机构信息
Department of Ophthalmology, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico.
出版信息
Bol Asoc Med P R. 2004 Mar-Apr;96(2):84-90.
PURPOSE
To study color vision in patients with oculocutaneous albinism (OCA) METHODS: We evaluated color vision in 42 patients with OCA using the HRR color plates. Sixty seven percent of the patients had the Hermansky-Pudlak syndrome (HPS), diagnosed genetically or clinically. The remaining patients had unknown mutations leading to OCA.
RESULTS
47.6 % of patients of OCA of all types included had a color vision defect. Of these, 55% were female and 45% were male patients. 50% of patients with the HPS (all types) had a color vision deficit. 42.9% of patients with OCA of unknown type had color weakness. 57.1% had normal color vision.
CONCLUSIONS
Results suggest that many patients with OCA and the HPS have a mild red-green color perception deficiency that is not a sex linked trait. The prevalence of color vision deficits in our study population increased with decreasing visual acuity.
目的
研究眼皮肤白化病（OCA）患者的色觉。
方法
我们使用HRR色板评估了42例OCA患者的色觉。67%的患者患有Hermansky-Pudlak综合征（HPS），通过基因或临床诊断。其余患者有导致OCA的未知突变。
结果
所有类型的OCA患者中，47.6%有色觉缺陷。其中，55%为女性患者，45%为男性患者。50%的HPS（所有类型）患者有色觉缺陷。42.9%的未知类型OCA患者有色弱。57.1%的患者色觉正常。
结论
结果表明，许多OCA和HPS患者有轻度红绿色觉缺陷，这不是一种性连锁性状。我们研究人群中色觉缺陷的患病率随视力下降而增加。
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