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Chronic Infantile Neurological Cutaneous and Articular/Neonatal Onset Multisystem Inflammatory Disease Syndrome
Ocular Manifestations in a Recently Recognized Chronic Inflammatory Disease of Childhood
Hélène Dollfus, MD;
Renate Häfner, MD;
Hans Martin Hofmann, MD;
Ricardo A. G. Russo, MD;
Leandro Denda, MD;
Luis Diaz Gonzales, MD;
Carmen DeCunto, MD;
Jorge Premoli, MD;
José Melo-Gomez, MD;
José Pedro Jorge, MD;
Richard Vesely, MD;
Michal Stubna, MD;
Jean-Louis Dufier, MD;
Anne-Marie Prieur, MD;
and the International Chronic Infantile Neurological Cutaneous and Articular/Neonatal Onset Multisystem Inflammatory Disease (CINCA/NOMID) Ocular Study Group
Arch Ophthalmol. 2000;118:1386-1392.
Objective To report on the ocular manifestations of the Chronic Infantile Neurological Cutaneous and Articular/Neonatal Onset Multisystem Inflammatory Disease (CINCA/NOMID) syndrome, a rare, recently identified, pediatric multisystem inflammatory disease with chronic cutaneous, neurological, and articular 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 manifestations was 4.5 years. Optic disc changes were the most common feature, occurring 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 (55%). 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, glaucoma, and white iritis were not observed in any patient.
Conclusion Ocular manifestations with potentially sight-threatening complications occur commonly in the CINCA/NOMID syndrome. The distinctive nature of these complications may assist the ophthalmologist in recognizing this rare disorder and distinguishing it from juvenile rheumatoid arthritis.
From the Department of Ophthalmology (Drs Dollfus and Dufier) and Unité d'Immuno-Hématologie Pédiatrique, Hôpital Necker-Enfants Malades, Paris, France; Rheumakinderklinik (Dr Häfner) and Sonnenbergstrasse (Dr Hofmann), Garmisch-Partenkirchen, Germany; Departments of Pediatrics (Dr Russo) and Ophthalmology (Drs Denda and Diaz Gonzales), Hospital de Pediatria J P Garrahan, and Departments of Pediatrics (Dr DeCunto) and Ophthalmology (Dr Premoli), Hospital Italiano, Buenos Aires, Argentina; Department of Pediatrics (Dr Melo-Gomes) and Ophthalmology (Dr Jorge), Hospital Militar Principal, Lisboa, Portugal; and the Departments of Pediatrics (Dr Vesely) and Ophthalmology (Dr Stubna), Faculty Hospital, Kosice, Slovakia.
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