Article: NIH study classifies vision loss and retinal changes in Stargardt disease
Source: National Institutes of Health / National Eye Institute
Published: January 25, 2022
Stargardt's disease is a retinal degenerative disease with onset in childhood. Affecting about 1 in 9,000 people, this autosomal recessive genetic condition is most commonly due to a mutation in the
ABCA4 gene, which affects a transmembrane protein in photoreceptors. Even so, patients with variants of the
ABCA4 gene show a wide range of gene expression, and consequently high variability in disease onset, progression, and severity. Researchers at the National Eye Institute developed and validated an artificial-intelligence-based method to study the driving factors behind Stargardt disease characteristics, that is, to correlate genetic variants with phenotype. In this prospective natural history study, 66 patients (132 eyes) were followed over 5 years using spectral-domain ocular coherence tomography (SD-OCT). Subsequent analysis with deep learning algorithms revealed loss of photoreceptors and damage to different photoreceptor layers, notably the ellipsoid zone (which is the mitochondria-containing outermost section of a photoreceptor's inner segment), according to the patient's phenotype and
ABCA4 variant. Based on loss of the ellipsoid zone and immediate surrounding areas (e.g., outer nuclear layer), the deep learning method could predict the severity of 31 different
ABCA4 variants. Additionally, quantitative analysis showed that progressive thinning of the photoreceptor layer represented the leading front of the disease, which could have potential to be an area to monitor for disease onset and progression as well as the effect of treatment. The authors conclude, "Patients with
ABCA4-associated retinopathy exhibited significant alterations of photoreceptors outside of
EZ-loss. DL-based analysis of photoreceptor laminae may help monitor disease progression and estimate the severity of
ABCA4 variants."
My rating of this study:
⭐⭐⭐Pfau M, Cukras CA, Huryn
LA
.
"Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates."
JCI Insight. 25 January 2022.
https://doi.org/10.1172/jci.insight.155373
No comments:
Post a Comment