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W. D. Newman, A. Kumar, V. Raja, L. J. McCann; Successful Treatment of Optic Neuropathy in Chronic Infantile Neurological Cutaneous and Articular Syndrome. Invest. Ophthalmol. Vis. Sci. 2010;51(13):5273.
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Chronic Infantile Neurological Cutaneous and Articular Syndrome(CINCA) syndrome is a rare congenital disease with the following characteristic features: rash from birth, early onset joint disease and neurological and ocular abnormalities. Ocular involvement includes uveitis and optic disc changes including papilloedema. It is associated with mis-sense mutations within the CIAS1 gene.We present two cases were ocular findings of uveitis and optic neuropathy were important findings in the diagnosis of CINCA. Both children were treated with the IL1 receptor antagonist Anakinra and responded favourably with resolution of systemic and ocular signs and symptoms.
Retrospective non-comparative case note analysis of 2 patients referred to our unit with onset of ocular symptoms. Both patients were under ongoing investigation for chronic multisystem disease, transient rash, sensorineural deafness, and juvenile chronic arthritis prior to review in our eye unit.
Two females aged 9 and 13 presented with symptoms of headaches, chronic bilateral red eyes and blurring of vision. Ocular examination revealed bilateral anterior uveitis and an optic neuropathy with elevated pale optic discs. Investigations revealed abnormal VEP and constriction of the visual fields. The ocular findings combined with systemic history of chronic inflammatory disease raised the suspicion of an underlying diagnosis of CINCA, which was confirmed with genetic testing. Both cases were treated successfully with Anakinra.
CINCA can be difficult to diagnose because it is a rare condition with multisystem involvement with variable degree of severity. The early recognition of anterior uveitis and optic disc swelling in children with a history of other chronic systemic inflammatory disease since birth should alert ophthalmologists to the possibility of CINCA. Treatment with Anakinra modifies both the symptoms and clinical signs of the disease and appears to result in longterm resolution of both uveitis and optic disc swelling.
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