Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype

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2017
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Aparecida Barasnevicius Quagliato, Elizabeth Maria [UNIFESP]
Rocha, Daniel Martins [UNIFESP]
Sacai, Paula Yuri [UNIFESP]
Watanabe, Sung Song [UNIFESP]
Salomao, Solange Rios
Berezovsky, Adriana [UNIFESP]
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Purpose: 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.
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Arquivos Brasileiros De Oftalmologia. Sao Paulo, v. 80, n. 4, p. 215-219, 2017.
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