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- W2042967737 abstract "Abstract Purpose Joubert syndrome (JS) is a rare autosomal recessive congenital malformation of the brainstem and cerebellar vermis. The pathology can be associated with retinal dystrophy (RD). In a previous study we presented the data of retinal involvement and their relationship with electrophysiology in 26 JS patients. The longitudinal data are shown in a part of this sample. Methods All the children had repeated clinical examinations. The electroretinogram (ERG) was performed without sedation. One recording skin electrode was placed on the bridge of the nose. The stimulation included the maximal combined response and a 30 Hz response after a brief adaptation. For the patterned visual evoked potentials (PVEP) a sequence of checks of 15, 30, 60, 120 and 300 minutes of arc was presented. All the JS children had both ERG and PVEP repeated from 2 to 4 times. A total of 13 JS affected children for the ERG and 12 for the PVEP were analyzed. Comparisons between percentage of reliable responses were performed by Fisher exact test. Results A significant difference between JS children with and without RD in 30 hz ERG (p=0.050) and 120, 60, 30, and 15 minutes of arc (p=0.006,0.002,<0.001,<0.001 respectively) was found. Conclusion ERG and PVEP repeated measures are valuable means for the diagnosis and follow‐up of RD in JS (patients)." @default.
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- W2042967737 date "2011-09-01" @default.
- W2042967737 modified "2023-09-26" @default.
- W2042967737 title "Electroretinogram and patterned Visual Evoked Potentials as detectors of retinal dystrophy in children affected by Joubert syndrome: a longitudinal survey" @default.
- W2042967737 doi "https://doi.org/10.1111/j.1755-3768.2011.4424.x" @default.
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