A Case Series Study of Leber’s Congenital Amaurosis: Clinical Description and ERG Findings
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چکیده
Purpose: To evaluate the incidence of Leber’s Congenital Amaurosis (LCA) in low vision children referred to electrophysiology ward of Farabi Eye Hospital, and review the clinical features of disease and Electroretiongraphy (ERG) test values to confirm the diagnosis and severity of the disease in Iran. Design: Prospective observational case series Methods: Two-hundred and fifteen cases of low vision infants and young children were referred to electrophysiology ward of Farabi Eye Hospital during 18 months. Clinical LCA diagnosis was made and ERG tests were done and LCA diagnosis was confirmed. The symptoms, signs and the results of eye examination and ERG findings were recorded. Results: The mean age of the patients was 27.43 (range, 1-120 months). Among low vision patients fourteen percent of patients had LCA. Fifty-four percent of the patients were female. Nystagmus and low vision were the two most common clinical manifestations of these patients. Hyperopia was the main refractive error (54.80%) and mild abnormalities in fundus examinations were found in 67.70% of cases. In nearly 90% of cases consanguinity was found. ERG was flat or unrecordable in more than 90% of cases, but in less than 10% of cases with recordable curves, severe decrease in amplitude of waves was encountered. ERG confirmed LCA diagnosis in 31 out of 37 patients (positive predictive value of 83.7%). Conclusion: The incidence of LCA in low vision children is similar to other studies. ERG helped in confirmation of presence or absence of overall retinal dysfunction in the majority /37 (83.7%) of LCA patients. It can differentiate these cases from other cases with poor vision in infantile age but genetic testing is recommended.
منابع مشابه
CLINICAL SCIENCE Progession of phenotype in Leber’s congenital amaurosis with a mutation at the LCA5 locus
Background: Leber’s congenital amaurosis (LCA) accounts for 5% of inherited retinal disease and is usually inherited as an autosomal recessive trait. Genetic and clinical heterogeneity exist. Mutations have been described in the RPE65, CRB1, RPGRIP1, AIPL1, GUCY2D, and CRX genes and other pedigrees show linkage to the LCA3 and LCA5 loci. The latter is a new locus which maps to 6q11-q16. The ocu...
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1. Weleber RG, Francis PJ, Trzupek KM. Leber ongenital amaurosis 2004 [Updated 2010]. In: Pagon RA, Bird TD, Dolan CR, et al., eds. GeneReviewsTM [Internet] (WA): University of Washington, 1993, from: http://www.ncbi.nlm.nih.gov/books/NBK1298/ 2. Bainbridge JW, Smith AJ, Barker SS et al. Effect of gene therapy on visual function in Leber’s congenital amaurosis. N Engl J Med 2008: 358 (21): 2231...
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Citation: Ripamonti C, Henning GB, Ali RR, et al. Nature of the visual loss in observers with Leber’s congenital amaurosis caused by specific mutations in RPE65. Invest Ophthalmol Vis Sci. 2014;55:6817–6828. DOI: 10.1167/iovs.14-14923 PURPOSE. To characterize visual losses associated with genetic mutations in the RPE65 gene that cause defects in the RPE-specific isomerase, RPE65. RPE65 is an im...
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PURPOSE To describe in detail cases with an initial diagnosis of Leber congenital amaurosis that were later found to have a hemizygous mutation in the CACNA1F gene. METHODS The patients underwent a detailed ophthalmological evaluation and full-field electroretinography (ERG). Selective targeted capture and whole-exome next-generation sequencing (NGS) were used to find the disease-causing muta...
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