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1.
Clin Exp Ophthalmol ; 48(2): 204-211, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31691473

RESUMO

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.


Assuntos
Lesões Encefálicas Traumáticas , Futebol Americano , Fibras Nervosas , Células Ganglionares da Retina , Adulto , Idoso , Humanos , Masculino , Pessoa de Meia-Idade , Lesões Encefálicas Traumáticas/diagnóstico por imagem , Lesões Encefálicas Traumáticas/fisiopatologia , Estudos Transversais , Futebol Americano/lesões , Fibras Nervosas/patologia , Refração Ocular/fisiologia , Células Ganglionares da Retina/patologia , Tomografia de Coerência Óptica , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia
3.
Ophthalmic Genet ; 39(5): 648-651, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30118607

RESUMO

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.


Assuntos
Aconitato Hidratase/genética , Mutação , Doenças do Nervo Óptico/genética , Doenças do Nervo Óptico/patologia , Criança , Feminino , Testes Genéticos , Humanos , Masculino , Linhagem , Prognóstico , Irmãos
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