Retinopathy in a Full-Term Infant with Cri-du-Chat Syndrome

Abstract

Cri-du-chat (CdC) is a 5p chromosomal deletion syndrome. CdC has numerous systemic associations but only a few ocular manifestations have been documented. In this report we present novel ocular findings of peripheral avascular retina and retinal hemorrhages in a full-term female infant, born to non-consanguineous parents, who had clinical features of cri-du-chat syndrome and genetic confirmation. The retinal hemorrhages resolved. However, the temporal avascular retina in our full-term patient remained. Further analysis of the 5p locus showed 3 genes: CTNND2, SEMA5A and SLC6A18 that not only fit our patient's external phenotype and ophthalmoscopic findings of retinal hemorrhages, but were also key in proper ocular development and neurogenesis, suggesting a genetic contribution by the short-arm of chromosome 5 to proper retinal maturation. Given these findings and their association with cri-du-chat, special attention on screening examinations should include a thorough evaluation of retinal vascularization in CdC patients, even in full-term neonates.

Keywords: avascular retina; cri-du-chat; retinal hemorrhages.