Leber’s congenital amaurosis is a group of rare congenital retinal dystrophies characterized by severe vision loss early in life. This article highlights the clinical presentations of this congenital anomaly. Introduction Leber’s Congenital Amaurosis (LCA) is an extremely rare group of genetic ophthalmological disorders where affected infants are born with visual impairments. This condition was first described by Theodor Karl Gustav von Leber in 1869 . It affects males and females equally, with a prevalence of 1-2/1,00,000 births.
It is caused due to impaired functioning of the light-gathering apparatus: the rods and cones. Clinical features Etiology LCA is a congenital retinal dystrophy, usually autosomal recessive in inheritance. Of the 27 genes implicated so far, 24 are associated with recessive disease, while two genes (IMPDH1 and OTX2) are associated with dominant disease. One…
