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Articles in Press

April  2017

Volume 3  Issue 1

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Original Research

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.

                                                                               

                                                                                                                                                             Download PDF Full text

 

 

 

 

 

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