title: Blepharokeratoconjunctivitis in Cockayne syndrome.
abstract: Cockayne syndrome is a multisystemic, autosomal recessive disease resulting from abnormalities of DNA repair. Ocular manifestations are common, particularly congenital cataract and retinal dystrophy. This study describes a previously unreported association of blepharokeratoconjunctivitis (BKC) in Cockayne syndrome. The authors conducted a retrospective case review of patients with Cockayne syndrome between 1997 and 2006. The ocular manifestations were documented. All cases were bilaterally aphakic from congenital cataract surgery. Four cases of BKC with resultant corneal changes were identified. Two other cases of BKC without corneal changes were also noted. There were no cases of corneal ulceration or visually significant scarring. These findings are clinically important because many patients with Cockayne syndrome wear contact lenses for the refractive correction of aphakia with a resultant risk of corneal ulceration.
authors.affiliation: Manchester Royal Eye Hospital, Oxford Road, Manchester M13, United Kingdom.
authors.forename: Rajan
authors.initials: R
authors.lastname: Bhojwani
authors.forename: I Chris
authors.initials: IC
authors.lastname: Lloyd
authors.forename: Suemyaa
authors.initials: S
authors.lastname: Alam
authors.forename: Jane
authors.initials: J
authors.lastname: Ashworth
mesh_terms: D001762:Blepharitis / Q000175:diagnosis / Q000209:etiology*; D003057:Cockayne Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007637:Keratoconjunctivitis / Q000175:diagnosis / Q000209:etiology*; D008297:Male; D012189:Retrospective Studies; D014792:Visual Acuity