Shiono T, Tsunoda M, Chida Y, Nakazawa M, Tamai M
Department of Ophthalmology, Tohoku University School of Medicine, Aoba-ku, Sendai, Japan.
Br J Ophthalmol. 1995 Feb;79(2):139-43. doi: 10.1136/bjo.79.2.139.
Thirteen affected Japanese male patients and 13 female carriers with X linked ocular albinism from seven families were examined to assess their clinical findings and to compare them with those of white and black patients. Affected Japanese patients had poor visual acuity, horizontal nystagmus, macular hypoplasia, and loss of stereopsis. Some affected patients had non-albinotic fundus with moderate pigmentation. The amount of pigment in the fundus varied among affected patients and appeared to be between that of the white and black patients. All affected patients had brown irides that show no translucency. Interestingly, two affected patients had megalocornea and a third affected patient had posterior embryotoxon. All female carriers exhibited good visual acuity, normal eye position, stereopsis, brown irides without translucency, and the typical mosaic pattern in the fundus. The pigmented iris and fundus made the correct diagnosis of these affected patients difficult. Nine affected patients (70%) had been diagnosed initially as having congenital nystagmus, with or without macular hypoplasia, until they were reviewed for this study.
对来自七个家庭的13名患有X连锁眼白化病的日本男性患者和13名女性携带者进行了检查，以评估他们的临床症状，并将其与白种人和黑种人患者的症状进行比较。患病的日本患者视力差、有水平眼球震颤、黄斑发育不全和立体视觉丧失。一些患病患者有中等色素沉着的非白化眼底。眼底的色素量在患病患者中各不相同，似乎介于白种人和黑种人患者之间。所有患病患者的虹膜均为褐色，无半透明现象。有趣的是，两名患病患者患有大角膜，第三名患病患者患有后胚胎毒素。所有女性携带者视力良好、眼位正常、有立体视觉、虹膜褐色且无半透明现象，眼底有典型的嵌合模式。色素沉着的虹膜和眼底使得对这些患病患者进行正确诊断变得困难。九名患病患者（70%）最初被诊断为患有先天性眼球震颤，伴有或不伴有黄斑发育不全，直到为这项研究对他们进行复查时才确诊。
