title: Keratoconus in an adult with 22q11.2 deletion syndrome.
abstract: 22q11.2 Deletion syndrome is one of the most common microdeletional syndromes, with an incidence of 1:4000 live-births, and potentially affects every organ in the body. More than 180 associated clinical features have been reported and not one phenotypic feature is present in 100% of cases. Ocular manifestations reported based on early childhood examinations include eyelid hooding, strabismus, posterior embryotoxon, retinal vessel tortuosity and refractive errors. Keratoconus has been reported once before in association with 22q11.2 deletion syndrome in a young adult. We report the second case of keratoconus in association with 22q11.2 deletion syndrome.
authors.affiliation: Department of Ophthalmology, St John's Episcopal Hospital, Far Rockaway, New York, USA.
authors.forename: Norman
authors.initials: N
authors.lastname: Saffra
authors.affiliation: Department of Ophthalmology, St John's Episcopal Hospital, Far Rockaway, New York, USA.
authors.forename: Benjamin
authors.initials: B
authors.lastname: Reinherz
mesh_terms: D000328:Adult; D017668:Age of Onset; D004062:DiGeorge Syndrome / Q000235:genetics / Q000503:physiopathology*; D005817:Genetic Counseling; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007640:Keratoconus / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008403:Mass Screening; D011788:Quality of Life