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Arquivos Brasileiros de Oftalmologia

Print version ISSN 0004-2749On-line version ISSN 1678-2925

Abstract

QUAGLIATO, Elizabeth Maria Aparecida Barasnevicius et al. Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype. Arq. Bras. Oftalmol. [online]. 2017, vol.80, n.4, pp.215-219. ISSN 1678-2925.  http://dx.doi.org/10.5935/0004-2749.20170053.

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.

Keywords : Neuronal ceroid lipofuscinoses; Membrane proteins/genetics; Retina/physiopathology; Electroretinography; Retinal dystrophies; Visual acuity.

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