Mintz-Hittner H A, Ferrell R E, Lyons L A, Kretzer F L
Department of Ophthalmology, Baylor College of Medicine, Houston, Texas 77030.
Am J Ophthalmol. 1992 Dec 15;114(6):700-7. doi: 10.1016/s0002-9394(14)74048-6.
Autosomal dominant aniridia with complete penetrance without Wilms' tumor in five generations with 27 affected family members has been reassigned from chromosome 2p25 to chromosome 11p13. Clinically, aniridia was obvious in affected individuals with variable expressivity when they had rudimentary iris stumps, typical or atypical iris colobomata, or round, eccentric pupils. However, iris and retinal fluorescein angiography was required to detect abnormal vascular remodeling that resulted in incomplete iris collarettes and decreased retinal foveal avascular zones in 27 family members at risk with round, central pupils. These angiograms distinguished five affected and 22 unaffected individuals, and were the critical criteria required to detect minimal expressivity of aniridia in family members with round, central pupils.
一个五代家族中有27名患病家庭成员，患常染色体显性无虹膜症且完全外显，无肾母细胞瘤，其致病基因已从2号染色体p25重新定位到11号染色体p13。临床上，当患病个体有残留虹膜残端、典型或非典型虹膜缺损或圆形、偏心瞳孔时，无虹膜症表现明显，但表现度各异。然而，对于27名有圆形、中央瞳孔的高危家庭成员，需要进行虹膜和视网膜荧光血管造影来检测异常血管重塑，这种重塑会导致不完全虹膜卷缩轮和视网膜中央凹无血管区缩小。这些血管造影区分出了5名患病个体和22名未患病个体，是检测有圆形、中央瞳孔的家庭成员中无虹膜症最小表现度所需的关键标准。
