Autoinflammatory retinopathy in chronic infantile neurological cutaneous and articular (CINCA) syndrome.
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.
Department of Ophthalmology, The Mater Misericordiae Hospital, South Brisbane, Queensland, Australia. Electronic address: tuantran86@gmail.com.
Tuan
T
Tran
Department of Ophthalmology, The Mater Misericordiae Hospital, South Brisbane, Queensland, Australia.
Thomas
T
Moloney
Department of Ophthalmology, The Mater Misericordiae Hospital, South Brisbane, Queensland, Australia.
Madeleine K
MK
Adams
Department of Ophthalmology, The Mater Misericordiae Hospital, South Brisbane, Queensland, Australia.
Shaheen P
SP
Shah
D056587:Cryopyrin-Associated Periodic Syndromes / Q000235:genetics* / Q000473:pathology; D006801:Humans; D012164:Retinal Diseases; D014430:Twins, Monozygotic