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

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.

Bilateral Serous Retinal Detachment from Neonatal-Onset Multisystemic Inflammatory Disorder.

PURPOSE: Neonatal-onset Multisystem Inflammatory Disorder (NOMID) is a systemic syndrome characterized by rash, large joint osteoarthropathies and chronic meningitis. Ocular manifestations include optic disc edema, corneal opacities and uveitis. We report the novel finding of serous retinal detachments (RD) in NOMID. METHODS: Case report. RESULTS: An eight-month-old girl was referred to the ED for work-up of optic disc edema. Physical exam revealed flat fontanelles; macrocephaly and frontal bossing; diffuse urticarial rash; and swollen joints; WBC count and inflammatory markers were elevated. Ophthalmology exam revealed decreased visual acuity, optic disc edema and bilateral serous RD. MRI revealed bilateral enhancement of the ocular choroid and enlargement of the third and fourth ventricles secondary to aqueductal webbing. After infectious testing returned negative, the patient was treated with anakinra, an interleukin-1 receptor antagonist. Three months later, the serous RDs resolved. CONCLUSION: Physicians should consider NOMID in infants presenting with diffuse rash, bilateral disc edema and serous retinal detachments.