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lüll Retinal function in patients with the neuronal ceroid lipofuscinosis phenotype Quagliato EMAB; Rocha DM; Sacai PY; Watanabe SS; Salomao SR; Berezovsky AArq Bras Oftalmol 2017[Jul]; 80 (4): 215-219PURPOSE: 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.|Child[MESH]|Child, Preschool[MESH]|Electroretinography/*methods[MESH]|Female[MESH]|Fundus Oculi[MESH]|Humans[MESH]|Infant[MESH]|Male[MESH]|Neuronal Ceroid-Lipofuscinoses/diagnosis/genetics/*physiopathology[MESH]|Phenotype[MESH]|Retina/*physiopathology[MESH]|Retrospective Studies[MESH]|Visual Acuity/*physiology[MESH] |