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Ravid Ben-Avi, Antonio Rivera, Karen Hendler, Dror Sharon, Eyal Banin, Claudia Yahalom; The Prevalence of Cystoid Macular Edema in Children with Retinitis Pigmentosa and Leber Congenital Amaurosis. Invest. Ophthalmol. Vis. Sci. 2021;62(8):3205.
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Cystoid macular edema (CME) is a common complication in retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) patients, with a reported prevalence of 11-50% in adults. However, CME prevalence in the pediatric RP population has not been addressed. The aim of our study was to assess the prevalence of CME in pediatric RP/LCA patients detected by optical coherence tomography (OCT).
Medical records of children up to age 18 with a diagnosis of RP/LCA were reviewed retrospectively; only those who performed an OCT scan were included in the study. Diagnosis was based on history of poor vision since birth, nyctalopia, visual field constriction, characteristic fundus findings on clinical examination or electroretinogram (ERG), and/or genetic testing. OCT images were reviewed and assessed for macular cystic changes. Patients with more than one hyporeflective cystic macular space with well-defined boundaries were included.
Of the 51 children (age 4-18 years, mean 10.8±4.0) diagnosed with RP, 16 had CME (31.3%) diagnosed by OCT, 14/16 (87.5%) had bilateral CME and 2 patients (12.5%) had unilateral CME. Among children with CME, 8 had an identified causative gene; among them 7/8 (87.5%) were inherited in an autosomal recessive fashion and 3/8 (37.5%) children had biallelic CRB1 mutations. CME was treated in 11/16 children and 4/11 had some improvement; 1/4 had improved vision (one line gain in vision for distance and near) and 3/4 had reduced central foveal thickness with stable vision.
Our results show that as many as one-third of children with RP/LCA will manifest cystic changes on OCT, comparable to the reported prevalence of CME in adults. Since clinical suspicion of cystic retinal lesions is challenging in children, it is necessary to screen these children by OCT to exclude the presence of CME. Early treatment of CME may potentially lead to better visual outcome. Additional long-term research is needed to assess recommended treatment and its efficacy on CME in pediatric RP/LCA patients.
This is a 2021 ARVO Annual Meeting abstract.
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