What Does Laber's Congenital Amaurosis Mean ?

Case Summary (Shankra Nathryala Channai) MRD No-1657940 & G.No. G-156/08 Ms Avani a 3.5 Years old girl brought by parents with history of noticing poor vision and shaking of eyeballs since birth . The child was born of full term normal delivery with non consanguineous marriage. He is a first child. There was a history of incubation for two days.milestone were normal. There was nohistory of similar problem in the family. The child was wearing hyperopic glasses since one year after consulting elsewhere.on examination,the child followed obects and light close to face . There was wandering eye movements. There was a horizontal rotary nystagmus in both the eyes. Hirschberg showed orthophoria. Anteria segmentexamination was normaldilated fundus examination showed normal disc altered reflex in the fovea and grayishtinge in the retina (Electroretinogram ) was done under genral anesthesia which showed features suggestive of Laber’sCongenital Amaurosis . The parents were explained about the condition. They were advised a gentic counseling.they and special schooling.they were advised to bring the child for followup after six month. Thanks Sanjay Sharma (Avani Father) Jodhpur (Raj) India 09784994400