赫尔曼斯基-普德拉克综合征
眼白化病
白化病
医学
视力
色素减退
眼科
眼球震颤
折射误差
发育不良
皮肤病科
听力学
外科
病理
古生物学
生物
纤维化
肺纤维化
作者
C. Gail Summers,William H. Knobloch,Carl J. Witkop,Richard A. King
出处
期刊:Ophthalmology
[Elsevier]
日期:1988-04-01
卷期号:95 (4): 545-554
被引量:98
标识
DOI:10.1016/s0161-6420(88)33152-0
摘要
Prospective ophthalmic evaluation was performed in 20 individuals with Hermansky-Pudlak syndrome, a type of oculocutaneous albinism with an associated deficiency of dense bodies in platelets. The extent of visual impairment and the possible relationship to the degree of hypopigmentation were studied. All patients showed nystagmus, visual acuity ranged from 20/60 to 20/400, and correction of refractive error provided a mild improvement in vision. Iris pigmentation varied in amount and did not correlate with the visual acuity measurement. Foveal hypoplasia was found in all patients, but variability in macular transparency and vascular architecture was noted. Visual-evoked potentials performed in 11 patients demonstrated excessive decussation of optic fibers. Recognition of this form of oculocutaneous albinism is important because of the associated pulmonary, gastrointestinal, renal, and cardiac manifestations of Hermansky-Pudlak syndrome.
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