Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype.
Arq Bras Oftalmol
; 80(4): 215-219, 2017.
Article
en En
| MEDLINE
| ID: mdl-28954019
ABSTRACT
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.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Retina
/
Agudeza Visual
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Electrorretinografía
/
Lipofuscinosis Ceroideas Neuronales
Tipo de estudio:
Diagnostic_studies
/
Observational_studies
/
Risk_factors_studies
Límite:
Child
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Child, preschool
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Female
/
Humans
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Infant
/
Male
Idioma:
En
Revista:
Arq Bras Oftalmol
Año:
2017
Tipo del documento:
Article
País de afiliación:
Brasil