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Visual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type I

2018Journal article Open access
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dc.contributor.authorJesus-Ribeiro, J
dc.contributor.authorFarinha, C
dc.contributor.authorAmorim, M
dc.contributor.authorMatos, A
dc.contributor.authorReis, A
dc.contributor.authorLemos, J
dc.contributor.authorCastelo-Branco, M
dc.contributor.authorJanuário, C
dc.date.accessioned2018-06-20T15:27:31Z
dc.date.available2018-06-20T15:27:31Z
dc.date.issued2018
dc.description.abstractBACKGROUND/AIMS: Neurodegeneration with brain iron accumulation (NBIA) type I is a rare disease that can be divided into a classical or atypical variant, according to age of onset and clinical pattern. Neuro-ophthalmological involvement has been documented in the classical variant but only anecdotically in the atypical variant. We sought to describe the visual and ocular motor function in patients with atypical form of NBIA type I. METHODS: Cross-sectional study, including patients with genetically confirmed NBIA type I and classified as atypical variant, who underwent ophthalmological examination with best corrected visual acuity (BCVA), optical coherence tomography (OCT), fundus autofluorescence (FAF), electroretinography (ERG), visual evoked potentials (VEP) and video-oculography. RESULTS: Seven patients with a mean BCVA of 0.12±0.14 logMAR were included. Only two patients showed structural evidence of advanced retinopathy in OCT and FAF, and there were no cases of optic atrophy. ERG data, however, showed abnormal scotopic and/or photopic responses in all patients. VEP were normal in all three patients. Ocular fixation was markedly unstable (eg, increased rate of saccadic pulses) in the majority of patients (5). Additional mild ocular motor disturbances included low gain pursuit (2), hypermetric saccades (1), low gain optokinetic (2) and caloric and rotatory responses (3). CONCLUSION: Functional retinal changes associated with marked instability of ocular fixation should be included in the clinical spectrum of NBIA, particularly in the atypical form.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationBr J Ophthalmol. 2018 Jan;102(1):102-108.pt_PT
dc.identifier.doi10.1136/bjophthalmol-2017-310181pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.4/2149
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.subjectPotenciais Evocados Visuaispt_PT
dc.subjectDistúrbios do Metabolismo do Ferropt_PT
dc.subjectDistrofias Neuroaxonaispt_PT
dc.subjectPerturbações da Motilidade Ocularpt_PT
dc.subjectAcuidade Visualpt_PT
dc.subjectDoenças da Retinapt_PT
dc.subjectRetinapt_PT
dc.subjectTomography, Optical Coherencept_PT
dc.subjectVisual Acuitypt_PT
dc.titleVisual and ocular motor function in the atypical form of neurodegeneration with brain iron accumulation type Ipt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.issue1pt_PT
oaire.citation.startPage102-108pt_PT
oaire.citation.volume102pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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