Articles in Press
Volume 3 Issue 1
Original Pupillometry in Patients with Leber Congenital Amaurosis: Feasibility Study and Residual Retinal Cell Function
Radwan Ajlan , Leah Wood, Irma Lopez, Ayesha Khan, and Robert K. Koenekoop*
Leber Congenital Amaurosis (LCA) (OMIM 204000) is a devastating, hereditary photoreceptor disease. It is estimated to be responsible for 5% of all inherited retinal disease and characterized by severe visual impairment at or near birth, wandering nystagmus, abnormal pupillary responses (amaurotic pupils), a severely decreased or absent electroretinogram (ERG), and high refractive errors. At least twenty retinal genes have currently been associated with LCA, en-coding retinal proteins that participate in a wide variety of retinal functions.