Nelson L B, Spaeth G L, Nowinski T S, Margo C E, Jackson L
Surv Ophthalmol. 1984 May-Jun;28(6):621-42. doi: 10.1016/0039-6257(84)90184-x.
Aniridia occurs as a phenotypically heterogeneous condition which may be inherited as an autosomal dominant disorder or as part of several systemic syndromes. It has been linked with the loci of chromosomes 1 and 2 and associated with the deletion of the p-13 band of chromosome 11. Aniridia may occur in a highly penetrant form in association with other ocular abnormalities with poor vision or in a more variable form with good vision. The recognition of a child with sporadic aniridia should alert physicians to the increased risk of development of Wilms' tumor.
无虹膜症是一种表型异质性疾病，可作为常染色体显性疾病遗传，或作为几种全身性综合征的一部分。它与1号和2号染色体位点有关，并与11号染色体p - 13带的缺失相关。无虹膜症可能以高外显率形式出现，并伴有视力不佳的其他眼部异常，或以视力良好的更具变异性的形式出现。识别患有散发性无虹膜症的儿童应提醒医生注意其患肾母细胞瘤风险增加。
