| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 4013235 | Journal of American Association for Pediatric Ophthalmology and Strabismus | 2016 | 4 Pages |
Abstract
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.
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Authors
Tuan Tran, Thomas Moloney, Madeleine K. Adams, Shaheen P. Shah,