Mandelkorn R M, Hoffman M E, Olander K W, Zimmerman T J, Harsha D
Ophthalmic Paediatr Genet. 1985 Aug;6(1-2):325-31.
The authors studied 33 patients in five families and have found that 14 of these patients fulfill criteria for the pigmentary dispersion syndrome. Affected patients had characteristics associated with the pigmentary dispersion syndrome, which are: peripheral slit-like iris transillumination defects, increased trabecular meshwork pigmentation, Krukenberg spindle, myopia, and elevated intraocular pressure. The authors observed this syndrome to be transmitted in a direct linear manner from parent to sibling in three of the four families. The transmission of this syndrome was found to be independent of refractive error, iris color, and sexual predilection, all of which are presented.
作者对来自五个家族的33名患者进行了研究,发现其中14名患者符合色素播散综合征的诊断标准。受影响的患者具有与色素播散综合征相关的特征,即:周边虹膜裂隙状透照缺损、小梁网色素沉着增加、Krukenberg梭形色素沉着、近视和眼压升高。作者观察到,在四个家族中的三个家族中,该综合征以直接线性方式从父母传给同胞。研究发现,该综合征的遗传与屈光不正、虹膜颜色和性别偏好无关,所有这些特征均有呈现。