CLASSIFYING ABCA4 MUTATION SEVERITY USING AGE-DEPENDENT ULTRA-WIDEFIELD FUNDUS AUTOFLUORESCENCE-DERIVED TOTAL LESION SIZE.
Rachael C Heath JefferyJennifer A ThompsonTina M LameyTerri L McLarenIan L McAllisterIan J ConstableDavid A MackeyJohn N De RoachFred K ChenPublished in: Retina (Philadelphia, Pa.) (2022)
Age-dependent TLS showed unique ABCA4 mutation-specific trajectories. Our novel clinical criterion using age of symptom onset and TLS to segregate ABCA4 mutations into three severity groups requires further molecular studies to confirm its validity.