Robertson D M, Link T P, Rostvold J A
Ophthalmology. 1982 Dec;89(12):1513-7. doi: 10.1016/s0161-6420(82)34609-6.
Ten patients in four families with white or yellow-white granular-like deposits of the peripheral retina, consistent with the description of snowflake degeneration are reported. The granular changes are observable near the equatorial fundus as numerous ophthalmoscopically discrete deposits commonly up to 100 to 200 microns in size that focally thicken the retina. They can be rather evenly distributed about the entire circumference of the eye, but sometimes they may show a predilection for the inferior quadrants. The lesions need not be associated with recognizable vitreous liquefaction, vitreoretinal traction, retinal breaks, or retinal pigmentation, and in some instances the condition appears relative stable for intervals as long as five years. The similar appearance in a mother and her 9-year-old son suggests further the relative stability of the condition. In its pure form, snowflake degeneration may be an innocent dominant familial finding but when associated with other conditions such as lattice degeneration, snowflake degeneration may be of clinical significance. Affected members may have co-existing extensive white with and without pressure changes and/or lattice degeneration.
报告了来自四个家族的10名患者，其周边视网膜有白色或黄白色颗粒状沉积物，与雪花样变性的描述相符。在赤道部眼底附近可观察到颗粒状改变，眼底镜检查可见许多离散的沉积物，通常大小达100至200微米，使视网膜局部增厚。它们可相当均匀地分布在眼球的整个圆周上，但有时可能更倾向于出现在下象限。这些病变不一定与可识别的玻璃体液化、玻璃体视网膜牵拉、视网膜裂孔或视网膜色素沉着相关，在某些情况下，病情在长达五年的时间里似乎相对稳定。一位母亲和她9岁儿子的相似表现进一步表明了病情的相对稳定性。在其纯粹形式下，雪花样变性可能是一种无害的显性家族性表现，但当与其他情况如格子样变性相关时，雪花样变性可能具有临床意义。受影响的成员可能同时存在广泛的白色病变，有或没有压力变化和/或格子样变性。
