Singh Deependra Vikram, Sharma Yog Raj, Azad Raj Vardhan, Pal Nikhil, Gadagina Shailesh
Vitreo-Retina Services, Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, Ansari Nagar, New Delhi, India.
J Pediatr Ophthalmol Strabismus. 2007 Jan-Feb;44(1):59-61. doi: 10.3928/01913913-20070101-13.
Three siblings with ectopia lentis were examined for associated abnormalities. Case 1 had Axenfeld-Rieger anomaly and retinal detachment. Case 2 had Axenfeld-Rieger anomaly, ciliary staphyloma, and glaucoma. Case 3 had no associated ocular abnormality. The parents had normal eyesight. This is the first report of ectopia lentis associated with Axenfeld-Rieger anomaly. The mode of inheritance is likely autosomal recessive.
对三名患有晶状体异位的兄弟姐妹进行了相关异常检查。病例1患有Axenfeld-Rieger异常和视网膜脱离。病例2患有Axenfeld-Rieger异常、睫状体葡萄肿和青光眼。病例3未发现相关眼部异常。父母视力正常。这是晶状体异位与Axenfeld-Rieger异常相关的首次报告。遗传模式可能为常染色体隐性遗传。