Abstract
Electroretinography can be performed early in life by non-invasive methodology, using skin electrodes. It provides unique insight into retinal function. 1 The aim of this study was to evaluate patterns of rods and cones dysfunction in early onset retinal dystrophies (EORD), using ERG. Forty-eight patients (mean age 17.6 ± 15.4 months) presenting with sensory nystagmus and electro-clinical diagnosis of isolated retinal dystrophy, were reviewed. ERGs were recorded with skin electrodes, without pupillary dilatation and sedation, under photopic and scotopic conditions. Thirteen cases with Leber’s Congenital Amaurosis had severely depressed or flat ERG early in life. Nineteen children with Achromatopsia had stationary cone involvement confirmed by at least one follow up ERG, 8/19 had also a mild stationary reduction of the amplitude of scotopic ERG. Nine cases with rod-cone dystrophy had progressive abnormality with earlier and prevalent scotopic involvement. Seven patients with cone-rod dystrophy had progressive photopic ERG involvement exceeding scotopic ERG involvement. The ERG represents a valid diagnostic tool, particularly in infancy when other diagnostic tests are more challenging. Specific ERG phenotypes support EORD diagnosis allowing timely genetic testing.
Published Version
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