Amano T, Shibuya Y, Hayasaka S
Department of Ophthalmology, Shimane Medical University, Japan.
Jpn J Ophthalmol. 1995;39(2):172-6.
Two sisters with blepharophimosis, ptosis, epicanthus inversus, and telecanthus were examined. Both patients also had amblyopia in the right eye and menstrual abnormalities associated with elevated serum luteinizing hormone and follicle-stimulating hormone. The patients' father was suspected of having blepharophimosis and ptosis. It is possible that the blepharophimosis syndrome observed in this family is of autosomal dominant inheritance. We believe that this condition of blepharophimosis, ptosis, epicanthus inversus, telecanthus, amblyopia, and menstrual abnormality found in our patients may be rare, and that the menstrual abnormality in these patients may be associated with ovarial failure.
对两名患有睑裂狭小、上睑下垂、内眦赘皮和睑裂增宽的姐妹进行了检查。两名患者右眼均有弱视，且月经异常，伴有血清促黄体生成素和促卵泡生成素升高。患者的父亲被怀疑患有睑裂狭小和上睑下垂。这个家族中观察到的睑裂狭小综合征有可能是常染色体显性遗传。我们认为，我们的患者中出现的睑裂狭小、上睑下垂、内眦赘皮、睑裂增宽、弱视和月经异常这种情况可能很罕见，而且这些患者的月经异常可能与卵巢功能衰竭有关。
