近来我们在门诊中发现了一例先天性无虹膜症的家系,这是一种极为罕见的遗传性疾病,特报道如下。该家系共五代38人,受检35人,确诊先天性无虹膜症患者9人,其中Ⅰ_1、Ⅱ_3是根据其子女回忆,描述症状与本症相符而推断。该家系中连续五代均有发病患者,所有患者与Ⅰ_1均有血缘关系。患者同代中约1/2同胞发病(指Ⅱ、ⅣⅤ代),双亲健康者其子女均健康;对患者配偶家系中进行调查;未发现发病者。 Recently we found in the clinic a family history of congenital absence of iris, which is a very rare genetic disease, especially reported as follows. The family a total of five generations of 38 people, 35 people were examined, diagnosed with congenital absence of 9 patients with iridemia, of which Ⅰ_1, Ⅱ_3 is based on their children’s memories, described the symptoms consistent with the disease inferred. The pedigree has five consecutive incidence of patients, all patients and Ⅰ_1 have blood relationship. About 1/2 of the siblings of the same generation of patients (refer to â ... ¡, â ... ¡generation), both parents were healthy children; investigation of the spouses of patients; no onset was found.