Seeing function in structure: “incidental” eye findings on OCT in a patient with multiple sclerosis

Conger, Darrel; Beh, Shin C.

doi:10.1016/j.msard.2019.03.019

Cited by 2 publications

(1 citation statement)

References 6 publications

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“…In this study, we examined NPC1-P, clinically asymptomatic NPC1-MC, and HC using OCT to identify retinal degeneration and to evaluate the potential eligibility of OCT measures as biomarkers of neurodegeneration and disease progress. OCT proved to be a precise and reproducible method [27] for non-invasive visualization and quantification of retinal layers, and plays a crucial role in analyzing retinal changes in various neurodegenerative [15] and neuroinflammatory diseases [28][29][30]. Due to its anatomical, embryological, and physiological similarities with the brain, the retina offers a unique and easily accessible "window" to study correlates and consequences of subclinical pathology in the brain [31].…”

Section: Discussionmentioning

confidence: 99%

Retinal axonal degeneration in Niemann–Pick type C disease

et al. 2020

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Objective Niemann-Pick disease type C1 (NPC1) is a rare autosomal-recessive lysosomal storage disorder presenting with a broad clinical spectrum ranging from a severe infantile-onset neurovisceral disorder to late-onset neurodegenerative disease. Optical coherence tomography (OCT) is established to detect retinal degeneration in vivo. We examined NPC1-patients (NPC1-P), clinically asymptomatic NPC1-mutation carriers (NPC1-MC), and healthy controls (HC) to (1) identify retinal degeneration in NPC1-disease and (2) to investigate possible subclinical retinal degeneration in NPC1-MC. Methods Fourteen NPC1-P, 17 NPC1-MC, and 31 age-matched HC were examined using spectral-domain OCT. Neurological examinations, clinical scales [modified Disability Rating Scale (mDRS); Scale for the Rating and Assessment of Ataxia (SARA); Spinocerebellar Ataxia Functional Index (SCAFI)], and video-oculography (VOG) were correlated with OCT data. Results Macular retinal nerve fiber layer and volumes of combined ganglion cell and inner plexiform layer were significantly lower in NPC1-P compared to HC [mRNFL (µm):0.13 ± 0.01 vs. 0.14 ± 0.02; p = 0.01; GCIPL (mm 3):0.60 ± 0.05 vs. 0.62 ± 0.04; p = 0.04]. No significant differences were found in NPC1-MC in comparison to HC. In NPC1-P, the amplitude of upward vertical saccades showed positive associations with peripapillary RNFL (ρ = 0.645; p < 0.05), and thinned GCIP (ρ = 0.609; p < 0.05), but not in NPC1-MC. In NPC1-P correlations between combined outer plexiform layer and outer nuclear layer (OPONL) with mDRS (r = − 0.617; p < 0.05) and GCIP with SARA (r = − 0.622; p < 0.05) were observed. Furthermore, in NPC1-MC, motor scores were negatively associated with pRNFL (ρ = − 0.677; p < 0.01). Conclusions Using OCT, we showed retinal degeneration in NPC1-P and significant correlation between retinal neuroaxonal degeneration with clinical measurements. We observed a non-significant trend of retinal degeneration in NPC1-MC correlating with subclinical motor abnormalities. Based on these preliminary data, OCT may be an important marker of neurodegeneration in NPC1-disease after onset of clinical symptoms.

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