MACROMELANOSOMES IN X-LINKED OCULAR ALBINISM
MACROMELANOSOMES IN X-LINKED OCULAR ALBINISM
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DOI：
10.1111/j.1365-2559.1980.tb02919.x
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发表时间：
1980-01-01
期刊：
影响因子：
6.4
通讯作者：
JAY, BS
中科院分区：
文献类型：
--
作者：
GARNER, A;JAY, BS
通过光学显微镜和EM检查4例Nettleship-Falls型X连锁眼白化病患者的临床正常皮肤，发现一些黑素细胞和角质形成细胞中存在大黑素体。测量高达5 μ m的许多异常黑素体显示出暗示阶段性生长模式的同心层状结构。3名女性携带者的表皮含有相似但较少的大黑素体。皮肤活检可能是有价值的，在确认诊断为眼白化病受影响的男性和在建立无症状的女性携带者状态。
Examination of clinically normal skin from 4 patients with X-linked ocular albinism of the Nettleship-Falls type by light microscopy and EM revealed the presence of macromelanosomes in some melanocytes and keratinocytes. Measuring up to 5 .mu.m many of the abnormal melanosomes showed a concentrically laminated structure suggestive of a phasic growth pattern. Epidermis from 3 female carriers contained similar but fewer macromelanosomes. Skin biopsy could be of value in confirming the diagnosis of ocular albinism in affected males and in establishing carrier status in asymptomatic females.