Contributor: Robert K.Koenekoop
Leber congenital amaurosis is an inherited retinal disorder that is clinically and genetically heterogeneous. It is a major cause of congenital blindness. A profound visual loss with nystagmus, poor pupillary reflexes develops in infants. The retina may appear normal or manifest varying degrees of atrophy and pigmentary change. The ERG is extinguished or markedly reduced. The variable ophthalmoscopic features include normal, retinitis pigmentosa-like picture, salt-and-pepper-like changes, chorioretinal atrophy, macular coloboma [coloboma - macula], retinitis punctata albescens-like picture, marbleized fundus pattern, nummular pigment lesions, and fundus flecks [flecked retina syndrome].
Seven genetic types of  Leber congenital amaurosis are recognized. Leber congenital amaurosis type I , Leber congenital amaurosis type II, Leber congenital amaurosis type III, Leber congenital amaurosis type IV, Leber congenital amaurosis type V,  Leber congenital amaurosis type VI, Leber congenital amaurosis type VII and mutations have been identified in six genes (RETGC1, RPE65, CRX, RPGRIP1, AIPL1, CRB1). A similar retinal degeneration has been reported in Jeune syndrome.