SD-OCT imaging of retinal degeneration in juvenile CLN3 disease - a potential adjunctive tool for global neurodegenerative assessment

Abstract

Purpose : Juvenile CLN3 disease (Batten disease) is associated with progressive cerebral neurodegeneration of the retina and central nervous system, leading to rapid visual deterioration and subsequent neurological deterioation. We obtained SD-OCT based quantitative data on the progression of retinal thickness reduction, as well as the potential clinical relevance of ophthalmic imaging as a parameter of global neurodegeneration over time.

Methods : Analysis of retinal thickness in 15 patients with juvenile CLN3 disease as well as an age-matched control group was obtained by measuring 3 mm temporal and nasal of the fovea with the aid of SD-OCT and compared to an age matched control group. Further age-dependent subanalysis of the inner retinal layer (retinal nerve fiber layer - inner plexiform layer) and the outer retinal layer (inner nuclear layer - retinal pigment epithelium) was performed. Subsequently age-matched cortical grey substance MRI-volumetry was correlated with the obtained retinal thickness measurements.

Results : In patients with juvenile CLN3 disease mean nasal retinal thickness ( 255.67 μm ± 30.99 μm) as well as temporal retinal thickness (219,65 μm ± 27.82 μm) were significantly reduced compared to the age-matched control group (p ≤ 0.01). The mean nasal inner retinal thickness was 141.42 μm (± 18.70 μm), wereas the temporal inner retinal thickness was 123.27 μm (± 19.60 μm). Nasal outer retinal thickness was 105.88 (± 19.89 μm); the mean temporal outer retinal thickness was 96.57 μm (± 9.23 μm). Furthermore correlation of total cumulative nasal and temporal retinal thickness with cortical grey substance MRI-volumetry showed a strong correlation. ( r = 0.807; r² = 0.651)

Conclusions : The presented study presents novel insight into the age-dependent retinal degeneration in patients with juvenile CLN3 disease. As continuous retinal degeneration can be non-invasively obtained by SD-OCT imaging and correlates well with cortical grey substance reduction, ophthalmic retinal imaging might become a valuable tool to assess global neurodegenerative progress in juvenile CLN3 disease and might establish as an outcome parameter of future therapeutic trials.

This is an abstract that was submitted for the 2017 ARVO Annual Meeting, held in Baltimore, MD, May 7-11, 2017.