title: Bilateral maculopathy associated with Pierre Robin sequence.
abstract: Pierre Robin sequence has been associated with a number of ocular complications, including myopia, strabismus, Möbius syndrome, nasolacrimal duct obstruction, glaucoma, cataract, microphthalmos, coloboma of choroid, and retinal detachment. We report a 10-day-old boy who presented with micrognathia, glossoptosis, and cleft palate as well as multiple congenital anomalies. Ophthalmic examination was notable for bilateral maculopathy, with focal areas of retinal and retinal pigment epithelial atrophy. The association of Pierre Robin sequence and maculopathy has been reported only twice previously.
authors.affiliation: Department of Ophthalmology, Weill Cornell Medical College, New York, NY, USA.
authors.forename: Matthew T
authors.initials: MT
authors.lastname: Witmer
authors.forename: Ryan
authors.initials: R
authors.lastname: Vasan
authors.forename: Richard
authors.initials: R
authors.lastname: Levy
authors.forename: Jessica
authors.initials: J
authors.lastname: Davis
authors.forename: R V Paul
authors.initials: RV
authors.lastname: Chan
mesh_terms: D001284:Atrophy; D017809:Fatal Outcome; D006801:Humans; D007231:Infant, Newborn; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D010855:Pierre Robin Syndrome / Q000150:complications* / Q000175:diagnosis; D012164:Retinal Diseases / Q000175:diagnosis / Q000209:etiology*; D055213:Retinal Pigment Epithelium / Q000473:pathology