Retina 2021 Jun 4. Epub 2021 Jun 4.
Centre for Ophthalmology and Visual Science (incorporating Lions Eye Institute), The University of Western Australia, Australia Australian Inherited Retinal Disease Registry and DNA Bank, Department of Medical Technology and Physics, Sir Charles Gairdner Hospital, Perth, Western Australia, Australia Department of Ophthalmology, Royal Perth Hospital, Perth, Western Australia, Australia Department of Ophthalmology, Perth Children's Hospital, Nedlands, Western Australia, Australia.
Purpose: To establish a mutation-specific age-dependent ultra-widefield fundus autofluorescence (UWF-FAF) trajectory in a large Stargardt disease (STGD1) cohort using total lesion size (TLS) and to develop a clinical method for variant classification.
Methods: A retrospective study of patients with biallelic ABCA4 mutations were evaluated with UWF-FAF. Boundaries of TLS, defined by stippled hyper/hypoautofluorescence, were outlined manually. Read More