The Clinical Effect of Homozygous ABCA4 Alleles in 18 Patients – Corrected Proof

Purpose: To describe the phenotypic presentation of a cohort of individuals with homozygous disease-associated ABCA4 variants.Design: Retrospective case series.Participants: Eighteen affected individuals from 13 families ascertained from a total cohort of 214 families with ABCA4-related retinal disease presenting to a single center.Methods: A detailed history was obtained, and color fundus photography, autofluorescence (AF) imaging, optical coherence tomography (OCT), and electrophysiologic assessment were performed. Phenotypes based on ophthalmoscopy, AF, and electrophysiology were assigned using previously reported characteristics. ABCA4 mutation detection was performed using the ABCR400 microarray (Asper Biotech, Tartu, Estonia) and high-throughput DNA sequencing, with direct sequencing used to assess segregation.Main (Read more...)

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