RESUMEN
IMPORTANCE: There is limited literature on the use of optical coherence tomography in the assessment of retinal nerve fibre layer (RNFL) thickness in sports-related repetitive mild traumatic brain injury. BACKGROUND: To evaluate RNFL thickness in professional rugby league players. RNFL thinning may serve as a proxy for wider white matter degeneration. DESIGN: Cross-sectional observational study. PARTICIPANTS: Thirteen retired Australian professional rugby league players were recruited. METHODS: Participants underwent binocular optical coherence tomography to measure RNFL thickness. Each participant underwent a complete ophthalmic assessment to exclude concurrent disease. MAIN OUTCOME MEASURES: RNFL thickness of each eye were compared with a normative database. RESULTS: Participants had played professional Rugby League for 18 years on average and reported sustaining 15 sports-related concussions throughout their career. The RNFL in participants was four micrometres thinner than that of matched normative data. Cohort average RNFL thickness was reduced in 12 out of 14 optical coherence testing parameters. These findings were statistically significant in the left inferonasal [P = .013] and left nasal [P = .006] sectors. There was no statistically significant relationship between RNFL thickness and other visual measures. CONCLUSIONS AND RELEVANCE: This study is the first to demonstrate RNFL thinning in a cohort of retired Australian professional Rugby League players. RNFL changes have been shown to correlate with cerebral white matter loss and neurodegeneration. Optical coherence tomography may serve as a safe and economical means of screening for repetitive traumatic brain injury related neurodegeneration in contact sport athletes.
Asunto(s)
Lesiones Traumáticas del Encéfalo , Fútbol Americano , Fibras Nerviosas , Células Ganglionares de la Retina , Adulto , Anciano , Humanos , Masculino , Persona de Mediana Edad , Lesiones Traumáticas del Encéfalo/diagnóstico por imagen , Lesiones Traumáticas del Encéfalo/fisiopatología , Estudios Transversales , Fútbol Americano/lesiones , Fibras Nerviosas/patología , Refracción Ocular/fisiología , Células Ganglionares de la Retina/patología , Tomografía de Coherencia Óptica , Trastornos de la Visión/fisiopatología , Agudeza Visual/fisiologíaRESUMEN
Inherited optic neuropathy is a rare cause of debilitating vision loss. It may occur in constellation with other syndromic features of neurological impairment, or present as an isolated finding. We describe a sibling pair, without a family history of vision loss, who developed visual impairment in early childhood consistent with optic neuropathy. Genetic testing identified novel compound heterozygous variants in the aconitase 2 (ACO2) gene. To date, seven families hosting ACO2 variants have been described in the literature. We describe the second family with ACO2 variants to have an isolated optic neuropathy highlighting the importance of including this gene in genomic panels assessing inherited optic neuropathies.
