ABSTRACT
PURPOSE: To determine the relationships between visual function and ganglion cell and inner plexiform layer thickness and neuropsychological measures in multiple sclerosis (MS). METHODS: Ninety-five relapsing-remitting MS (RRMS) and 36 progressive MS patients underwent 100%-contrast visual acuity (VA), 2.5%- and 1.25%-contrast letter acuity (LA) testing, Cirrus-HD-optical coherence tomography, and neuropsychological assessments. Mixed-effects regression models were used to assess relationships. RESULTS: Across the cohort, 1.25%-contrast LA was associated with Symbol Digit Modalities Test (SDMT; ß = 2.17, p = 0.005) and Brief Visuospatial Memory Test-Revised (BVMT-R) total recall (TR) and delayed recall (DR) scores (ß = 0.31, p < 0.001; ß = 0.15, p = 0.039, respectively). 2.5%-contrast LA was associated with BVMT-R TR scores (ß = 0.27, p = 0.006). In the RRMS cohort, 1.25%-contrast LA was generally more significantly associated with cognitive measures: SDMT (ß = 2.97, p = 0.001) and BVMT-R TR (ß = 0.32, p < 0.001) and DR (ß = 0.22, p = 0.012). CONCLUSION: This study suggests that visual pathway measures, particularly visual function measures, reflect aspects of cognitive function in MS, further supporting their roles as complementary outcomes in MS neuroprotection trials.
Subject(s)
Cognition/physiology , Multiple Sclerosis/physiopathology , Retina/physiopathology , Tomography, Optical Coherence/methods , Visual Acuity , Visual Pathways/diagnostic imaging , Adult , Disease Progression , Female , Humans , Male , Middle Aged , Multiple Sclerosis/diagnosis , Multiple Sclerosis/psychology , Retina/diagnostic imaging , Visual Pathways/physiopathologyABSTRACT
BACKGROUND: X-linked adrenoleukodystrophy is a metabolic disease caused by mutations in the ABCD1 gene, which codes for a peroxisomal membrane protein, leading to the accumulation of very long-chain fatty acids. Thinning of the retinal nerve fiber layer and macula has been described in adult-onset adrenomyeloneuropathy; however, assessment of these structures in the presymptomatic stage remains largely unexplored. Optical coherence tomography is a high-resolution medical imaging technology that has been widely used to assess ophthalmological diseases and more recently in neurological disease states to quantify the axonal and neuronal injury in the retina that results from demyelination of the optic nerve. METHODS: Fourteen boys with presymptomatic X-linked adrenoleukodystrophy and 14 age-matched healthy controls underwent retinal imaging with optical coherence tomography. RESULTS: Optical coherence tomography-derived retinal thickness measures did not differ between adrenoleukodystrophy subjects and healthy controls. CONCLUSIONS: Our results suggest that structural retinal abnormalities are not detectable before the development of neurological manifestations in adrenoleukodystrophy. Further investigation of the utility of optical coherence tomography scanning in individuals with symptomatic disease should be considered to determine if its measures could be used as a biomarker of disease progression.
