title: Congenital retinal dystrophy and corneal opacity in trisomy 8 mosaicism.
abstract: Trisomy 8 mosaicism can present with a wide variety of systemic and ophthalmologic manifestations. We report a patient with an extinguished electroretinogram and diffuse retinal pigment epithelial abnormalities suggestive of a rod-cone dystrophy, which has not been previously reported in association with trisomy 8. A finding that has been described in several patients with trisomy 8 is a central corneal opacity, but there are no data regarding the natural history of this finding; the corneal opacity in our patient spontaneously improved. This case expands the clinical spectrum of this rare entity.
authors.affiliation: Department of Ophthalmology, Dean A. McGee Eye Institute, University of Oklahoma, Oklahoma City 73104, USA.
authors.forename: Donald U
authors.initials: DU
authors.lastname: Stone
authors.forename: R Michael
authors.initials: RM
authors.lastname: Siatkowski
mesh_terms: D002898:Chromosomes, Human, Pair 8; D003318:Corneal Opacity / Q000235:genetics*; D004596:Electroretinography; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D008297:Male; D009030:Mosaicism; D010857:Pigment Epithelium of Eye / Q000473:pathology; D012162:Retinal Degeneration / Q000151:congenital / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D014314:Trisomy