Summers C G, Oetting W S, King R A
Department of Ophthalmology, University of Minnesota, USA.
Am J Ophthalmol. 1996 Jun;121(6):724-6. doi: 10.1016/s0002-9394(14)70647-6.
To use molecular analysis to diagnose oculocutaneous albinism in a patient with an atypical clinical presentation.
A 34-year-old woman with a history of strabismus and absent cutaneous pigment underwent comprehensive ophthalmic examination, visual-evoked potentials to detect altered optic decussation, and molecular analysis.
Examination showed fine nystagmus, iris transillumination, foveal hypoplasia, and corrected visual acuity of 20/25 in each eye. Misrouting of the retinostriate fibers was demonstrated with visual-evoked potentials. Mutations in the tyrosinase gene established the diagnosis of oculocutaneous albinism 1 even though the patient had atypical clinical features.
Molecular analysis can establish the diagnosis of oculocutaneous albinism 1 in the patient with atypical ocular features.
运用分子分析诊断一名临床表现不典型患者的眼皮肤白化病。
一名有斜视病史且皮肤无色素沉着的34岁女性接受了全面的眼科检查、用于检测视交叉改变的视觉诱发电位检查以及分子分析。
检查显示双眼存在细微眼球震颤、虹膜透照、黄斑发育不全，每只眼睛的矫正视力为20/25。视觉诱发电位显示视辐射纤维错路。酪氨酸酶基因突变确诊为眼皮肤白化病1型，尽管该患者具有非典型临床特征。
分子分析能够确诊具有非典型眼部特征患者的眼皮肤白化病1型。
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