Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome - Journal of American Association for Pediatric Ophthalmology and Strabismus {JAAPOS}

Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome - Journal of American Association for Pediatric Ophthalmology and Strabismus {JAAPOS}

Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome

Tuan Tran, MBBSCorrespondence information about the author MBBS Tuan TranEmail the author MBBS Tuan Tran

, 

Thomas Moloney, MBBS

, 

Madeleine K. Adams, MRCOphth

, 

Shaheen P. Shah, FRCOphth

Department of Ophthalmology, The Mater Misericordiae Hospital, South Brisbane, Queensland, Australia

DOI: http://dx.doi.org/10.1016/j.jaapos.2016.03.015

Article Info

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.