Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome - Ocular manifestations in a recentlyrecognized chronic inflammatory disease of childhood

Objective: To report on the ocular manifestations of the Chronic Infantile Neurological Cutaneous and Articular/Neonatal Onset Multisystem Inflammator y Disease (CINCA/NOMID) syndrome, a rare, recently identified, pediatric mu ltisystem inflammatory disease with chronic cutaneous, neurological, and ar ticular manifestations. Design: Descriptive case-report study. Setting: International collaborative study based on a questionnaire. Results: We included 31 patients. The mean age at onset of eye manifestatio ns was 4.5 years. Optic disc changes were the most common feature, occurrin g in 26 patients (83%), including optic disc edema, pseudopapilledema, and optic atrophy. Anterior segment manifestations varying from mild to severe were seen in 13 patients (42%); chronic anterior uveitis, in 17 patients (5 5%). Moderate to severe visual acuity loss in at least 1 eye was seen in 8 patients (26%) as a consequence of the disease. Posterior synechia, glaucom a, and white iritis were not observed in any patient. Conclusion: Ocular manifestations with potentially sight-threatening compli cations occur commonly in the CINCA/NOMID syndrome. The distinctive nature of these complications may assist the ophthalmologist in recognizing this r are disorder and distinguishing it from juvenile rheumatoid arthritis.