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South Brisbane, Australia

Tran T.,The Materials Misericordiae Hospital | Moloney T.,The Materials Misericordiae Hospital | Adams M.K.,The Materials Misericordiae Hospital | Shah S.P.,The Materials Misericordiae Hospital
Journal of AAPOS | Year: 2016

Chronic infantile neurological cutaneous and articular (CINCA) syndrome is a rare autosomal dominant autoinflammatory disease. We report the cases of monozygotic twins with CINCA syndrome whose predominant ocular manifestation was inflammatory rod-cone retinal dystrophy. Atypically, there were significant differences between twins in phenotype severity, suggestive of epigenetic differences and/or involvement of environmental factors. © 2016 American Association for Pediatric Ophthalmology and Strabismus.

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