Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype

dc.creatorAparecida Barasnevicius Quagliato, Elizabeth Maria [UNIFESP]
dc.creatorRocha, Daniel Martins [UNIFESP]
dc.creatorSacai, Paula Yuri [UNIFESP]
dc.creatorWatanabe, Sung Song [UNIFESP]
dc.creatorSalomao, Solange Rios
dc.creatorBerezovsky, Adriana [UNIFESP]
dc.date.accessioned2020-06-26T16:30:22Z
dc.date.accessioned2022-10-07T20:44:10Z
dc.date.available2020-06-26T16:30:22Z
dc.date.available2022-10-07T20:44:10Z
dc.date.created2020-06-26T16:30:22Z
dc.date.issued2017
dc.identifierArquivos Brasileiros De Oftalmologia. Sao Paulo, v. 80, n. 4, p. 215-219, 2017.
dc.identifier0004-2749
dc.identifierhttps://repositorio.unifesp.br/handle/11600/53507
dc.identifierS0004-27492017000400215.pdf
dc.identifierS0004-27492017000400215
dc.identifier10.5935/0004-2749.20170053
dc.identifierWOS:000411799900003
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/4022052
dc.description.abstractPurpose: To analyze the clinical features, visual acuity, and full-field electroretinogram (ERG) findings of 15 patients with the neuronal ceroid lipofuscinosis (NCL) phenotype and to establish the role of ERG testing in NCL diagnosis. Methods: The medical records of five patients with infantile NCL, five with Jansky-Bielschowsky disease, and five with juvenile NCL who underwent full-field ERG testing were retrospectively analyzed. Results: Progressive vision loss was the initial symptom in 66.7% of patients and was isolated or associated with ataxia, epilepsy, and neurodevelopmental involution. Epilepsy was present in 93.3% of patients, of whom 86.6% presented with neurodevelopmental involution. Fundus findings ranged from normal to pigmentary/atrophic abnormalities. Cone-rod, rod-cone, and both types of dysfunction were observed in six, one, and eight patients, respectively. Conclusion: In our study, all patients with the NCL phenotype had abnormal ERG findings, and the majority exhibited both cone-rod and rod-cone dysfunction. We conclude that ERG is a valuable tool for the characterization of visual dysfunction in patients with the NCL phenotype and is useful for diagnosis.
dc.languageeng
dc.publisherConsel Brasil Oftalmologia
dc.relationArquivos Brasileiros De Oftalmologia
dc.rightsACESSO ABERTO
dc.subjectNeuronal ceroid lipofuscinoses
dc.subjectMembrane proteins/genetics
dc.subjectRetina/physiopathology
dc.subjectElectroretinography
dc.subjectRetinal dystrophies
dc.subjectVisual acuity
dc.titleRetinal function in patients with the neuronal ceroid lipofuscinosis phenotype
dc.typeArtigo


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