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.