title: Flecked retina associated with ring 17 chromosome.
abstract: We report the case of a mentally retarded male with a ring 17 chromosome who had subretinal drusen-like deposits in each eye. This is the second report of flecked retina in a patient with ring 17 chromosome, suggesting that there may be a causal relationship between abnormalities of chromosome 17 and retinal pigment epithelial or photoreceptor dysfunction.
authors.affiliation: Department of Ophthalmology, Addenbrooke's Hospital, Cambridge.
authors.forename: S J
authors.initials: SJ
authors.lastname: Charles
authors.forename: A T
authors.initials: AT
authors.lastname: Moore
authors.forename: B C
authors.initials: BC
authors.lastname: Davison
authors.forename: H M
authors.initials: HM
authors.lastname: Dyson
authors.forename: L
authors.initials: L
authors.lastname: Willatt
mesh_terms: D000328:Adult; D002886:Chromosomes, Human, Pair 17; D005451:Fluorescein Angiography; D006130:Growth Disorders / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D008548:Melanosis / Q000235:genetics; D012160:Retina / Q000473:pathology; D015593:Retinal Drusen / Q000235:genetics* / Q000473:pathology; D012303:Ring Chromosomes