Open AccessThe Effect on Retinal Structure and Function of 15 Specific ABCA4 Mutations: A Detailed Examination of 82 Hemizygous Patients
Author(s) -
Ana Fakin,
Anthony G. Robson,
John Chiang,
Kaoru Fujinami,
Anthony T. Moore,
Michel Michaelides,
Graham E. Holder,
Andrew R. Webster
Publication year - 2016
Publication title -
investigative ophthalmology and visual science
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.935
H-Index - 218
eISSN - 1552-5783
pISSN - 0146-0404
DOI - 10.1167/iovs.16-20446
Subject(s) - abca4 , stargardt disease , erg , electroretinography , ophthalmology , medicine , retinal , pathology , biology , genetics , phenotype , gene
To determine the effect of 15 individual ABCA4 mutations on disease severity.