Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood.
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.


METHODS
Descriptive case-report study.


METHODS
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.


CONCLUSIONS
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.
Dollfus
H
H
Service de Génétique Médicale et Service d'Ophtalmologie, H opitaux Universitaires de Strasbourg, 67089 Strasbourg, France.
Häfner
R
R
Hofmann
H M
HM
Russo
R A
RA
Denda
L
L
Gonzales
L D
LD
DeCunto
C
C
Premoli
J
J
Melo-Gomez
J
J
Jorge
J P
JP
Vesely
R
R
Stubna
M
M
Dufier
J L
JL
Prieur
A M
AM
D000015:Abnormalities, Multiple; D000293:Adolescent; D000328:Adult; D000869:Anterior Eye Segment / Q000002:abnormalities; D001168:Arthritis / Q000150:complications* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002908:Chronic Disease; D005124:Eye Abnormalities / Q000150:complications / Q000473:pathology; D005128:Eye Diseases / Q000150:complications* / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008581:Meningitis / Q000150:complications* / Q000473:pathology; D009896:Optic Atrophy / Q000150:complications / Q000473:pathology; D009898:Optic Disk / Q000473:pathology; D010211:Papilledema / Q000150:complications / Q000473:pathology; D012871:Skin Diseases / Q000150:complications* / Q000473:pathology; D013577:Syndrome; D014606:Uveitis, Anterior / Q000150:complications / Q000473:pathology; D014792:Visual Acuity