Format

Send to

Choose Destination
J AAPOS. 2016 Aug;20(4):365-8. doi: 10.1016/j.jaapos.2016.03.015. Epub 2016 Jun 16.

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

Author information

1
Department of Ophthalmology, The Mater Misericordiae Hospital, South Brisbane, Queensland, Australia. Electronic address: tuantran86@gmail.com.
2
Department of Ophthalmology, The Mater Misericordiae Hospital, South Brisbane, Queensland, Australia.

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.

PMID:
27320017
DOI:
10.1016/j.jaapos.2016.03.015
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center