Jotterand V, Boisjoly H M, Harnois C, Bigonesse P, Laframboise R, Gagné R, St-Pierre A
Department of Ophthalmology, Centre Hospitalier de l'Université Laval, Québec, Canada.
Br J Ophthalmol. 1990 Sep;74(9):568-70. doi: 10.1136/bjo.74.9.568.
Three cases of Wilms' tumour and sporadic aniridia were followed up for periods ranging from 32 months to seven years. All had a deletion of the short arm of the eleventh chromosome 11p13, including one case with mosaicism, a cytogenetic feature that has not been previously described in the Wilms' tumour and sporadic aniridia association. Unusual non-ocular features found in all patients included tracheomalacia and delayed closure of the anterior fontanelle. In two cases tracheomalacia was responsible for respiratory distress after general anaesthesia. Wilms' tumour developed bilaterally in one patient and on the isthmus of a horseshoe kidney in another patient. In addition to the more commonly observed ocular features the presence of a corneal pannus was noted before 38 months of age in all patients and as early as 17 months in one case. An iridocorneal adherence with an overlying corneal opacity (presumably related to abnormal developmental cleavage of the anterior segment) was noted in one eye only of the mosaicism case.
对3例肾母细胞瘤合并散发性无虹膜患者进行了随访，随访时间为32个月至7年。所有患者均存在11号染色体短臂11p13缺失，其中1例为嵌合体，这种细胞遗传学特征此前在肾母细胞瘤与散发性无虹膜的关联中尚未见报道。所有患者均发现有异常的非眼部特征，包括气管软化和前囟闭合延迟。2例患者的气管软化导致全身麻醉后出现呼吸窘迫。1例患者双侧发生肾母细胞瘤，另1例患者的肾母细胞瘤发生在马蹄肾的峡部。除了更常见的眼部特征外，所有患者在38个月龄前均出现角膜血管翳，其中1例最早在17个月龄时就出现了。仅在嵌合体病例的一只眼中发现虹膜角膜粘连并伴有角膜混浊（可能与前段异常发育性分裂有关）。
