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Inherited Retinal Disease

Cystoid macular edema prevalence higher in Usher syndrome

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A new analysis that sought to determine the prevalence of Cystoid macular edema (CME) in children with early onset retinal dystrophies (EORD) found that nearly half of patients with Usher syndrome had CME.

In this consecutive, retrospective case series, the medical records of 102 children diagnosed with EORD were analyzed. Of the 102 children included, optic coherence tomography was performed in 60 of them. The presence of CME on OCT scans was found in 31.7% (19/60).

The disease-causing gene was identified in 13 of the children with CME. Amongst those with an identified genotype, autosomal-recessive inheritance was found in 88.3%.

CME was found in 44.4% of children with Usher syndrome.

The study authors noted that the early treatment of CME resulted in variable responses.

Reference
Ben-Avi R, Rivera A, Hendler K, et al. Prevalence and associated factors of cystoid macular edema in children with early onset inherited retinal dystrophies. Eur J Ophthalmol. 2022;11206721221136318. doi: 10.1177/11206721221136318. Epub ahead of print. PMID: 36317312.

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