AI Article Synopsis

  • This study investigates the retinal changes in patients with CLN2 disease who are receiving enzyme replacement therapy (ERT), focusing on the loss of central retinal thickness (CRT).
  • Using optical coherence tomography scans, researchers analyzed the structural details of the retina and found that the degeneration primarily affects photoreceptor cells.
  • Findings indicate that early disruptions in the ellipsoid zone (EZ) of the retina precede more significant photoreceptor degeneration, which progresses in a predictable pattern, providing valuable biomarkers for assessing disease and treatment effectiveness.

Article Abstract

Purpose: Bilateral progressive, symmetrical loss of central retinal thickness (CRT) has been described in neuronal ceroid lipofuscinosis type 2 (CLN2) disease. This study details the pattern of morphological changes underlying CRT loss and disease progression in patients receiving intracerebroventricular (ICV) enzyme replacement therapy (ERT) with cerliponase alfa.

Methods: Spectral-domain optical coherence tomography macular cube scans were collected from 16 patients with classic CLN2 disease receiving ICV ERT. Detailed retinal structure analyses were performed on manually segmented horizontal B-scans through the fovea to determine the thickness of six retinal parameters and the extent of ellipsoid zone (EZ) loss.

Results: Anatomical changes primarily occurred in photoreceptor (PR)-related retinal parameters and correlated with ocular disease severity. Retinal degeneration began with initial focal parafoveal EZ discontinuities signaling the onset of rapid PR degeneration in a predictable pattern: parafoveal PR involvement with foveal sparing followed by profound parafoveal and foveal PR loss with additional thinning beyond the central retina. PR degeneration began with outer segment loss and progressed to outer nuclear layer (ONL) involvement. Longitudinal analyses confirmed these observations. The rate of PR loss was fastest at the fovea at ∼58 mm per year and became slower at locations farther away from the fovea.

Conclusions: Retinal degeneration in CLN2 disease is primarily associated with PR loss in a predictable pattern, with EZ disruption signaling early PR stress. CRT, ONL thickness, and PR layer thickness are useful anatomical biomarkers for understanding disease progression and treatment efficacy in CLN2. Studies using en face images will further clarify CLN2-related retinal degeneration.

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Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC11290571PMC
http://dx.doi.org/10.1167/iovs.65.8.45DOI Listing

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