Vision loss and retinal changes in Stargardt disease

"These results provide a framework for assessing Stargardt disease progression, which will help control for significant differences between patients and facilitate treatment trials," said Michael F.

About 1 in 9,000 people will develop the most common form of Stargardt or ABCA4-related retinopathy, an autosomal recessive disorder caused by mutations in the ABCA4 gene, which contains the genetic information for a transmembrane protein in photoreceptor cells

However, even if all patients had the ABCA4 gene variant, there were large differences in age of onset and disease progression

"Different variants of the ABCA4 gene may contribute to different disease features or phenotypes

Using a retinal imaging technique called spectral domain optical coherence tomography (SD-OCT), the researchers followed 66 Stargardt patients (132 eyes) for five years

Using deep learning, the researchers were able to quantify and compare the loss of photoreceptors and retinal layers based on patient phenotype and ABCA4 variation

Specifically, the researchers focused on the health of a photoreceptor known as an ellipsoid zona -- a feature at the boundary between the inner and outer segments of a photoreceptor that weakens or disappears due to disease

They found that the absence of ellipsoid regions (a measure of severe photoreceptor cell degeneration) and the thinning of the outer nuclear layer outside these regions (a measure of subtle photoreceptor cell degeneration) followed a predictable temporal and spatial patterns

Importantly, they also found that photoreceptor degeneration was not limited to areas where the ellipsoid was lost

"We now have structured outcome measures sensitive to Stargardt disease, applicable to a broad range of patients, which are critical to advancing therapeutic trials," Jeffrey said

This research was funded by the NEI Intramural Research Program

Journal Reference :

1. Maximilian Pfau, Catherine A.