E
Elaine De Pool
Publications - 1
Citations - 101
Elaine De Pool is an academic researcher. The author has contributed to research in topics: Erg & Compound heterozygosity. The author has an hindex of 1, co-authored 1 publications receiving 97 citations.
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The Phenotype of Leber Congenital Amaurosis in Patients With AIPL1 Mutations
Sharola Dharmaraj,Bart P. Leroy,Bart P. Leroy,Melanie M. Sohocki,Robert K. Koenekoop,Isabelle Perrault,Khalid Anwar,Shagufta Khaliq,R. Summathi Devi,David G. Birch,Elaine De Pool,Natalio J. Izquierdo,Lionel Van Maldergem,M. Ismail,Annette M. Payne,Annette M. Payne,Graham E. Holder,Shomi S. Bhattacharya,Alan C. Bird,Josseline Kaplan,Irene H. Maumenee +20 more
TL;DR: The phenotype of LCA in patients with AIPL1 mutations is relatively severe, with a maculopathy in most patients and keratoconus and cataract in a large subset, and the ERG of a parent heterozygote carrier revealed significantly reduced rod function.