Publications by authors named "Marisa Boyle"
Stargardt maculopathy, caused predominantly by mutations in the ABCA4 gene, is characterized by an accumulation of non-degradable visual pigment derivative, lipofuscin, in the retinal pigment epithelium (RPE) - resulting in RPE atrophy. RPE is a monolayer tissue located adjacent to retinal photoreceptors and regulates their health and functioning; RPE atrophy triggers photoreceptor cell death and vision loss in Stargardt patients. Previously, ABCA4 mutations in photoreceptors were thought to be the major contributor to lipid homeostasis defects in the eye.
View Article and Find Full Text PDFPurpose: To systematically assess the ability to detect change and retest reliability for a panel of visual function assessments in ABCA4 retinopathy.
Design: Prospective natural history study (NCT01736293).
Methods: Patients with at least 1 documented pathogenic ABCA4 variant and a clinical phenotype consistent with ABCA4 retinopathy were recruited from a tertiary referral center.
Article Synopsis
- A study was conducted to measure the progression of photoreceptor degeneration in patients with ABCA4-associated retinopathy, focusing on changes in the ellipsoid zone (EZ) and surrounding areas over an average follow-up of 4.2 years.
- Results showed a steady EZ-loss progression rate and noted significant thinning of the outer nuclear layer (ONL) beyond the EZ-loss boundary, with varying impacts on inner and outer segment layers.
- The research utilized deep learning techniques for analysis and found that variations in ABCA4 gene alleles explained a significant portion of the variability in age at which EZ-loss occurred, suggesting potential for improved monitoring and understanding of the disease’s progression.