title: Ocular manifestations of Noonan syndrome in twin siblings: a case report of keratoconus with acute corneal hydrops.
abstract: Ocular manifestations of Noonan syndrome (NS) in a set of healthy 20-year-old African-American fraternal twins are reported with emphasis on a rare finding of keratoconus with acute corneal hydrops in one twin. Both the twins had learning disabilities and attended a special needs school. Evaluation included visual acuity assessment, tonometry and external eye, slit lamp and dilated fundus examinations, topography with Pentacam and external photographs. The first case was more remarkable as keratoconus with acute corneal hydrops was observed. The patient presented with severe cloudy vision that had worsened over a span of 1 month. It improved significantly on follow-up. The second case included a unique constellation of ocular pathology that highlights the diversity of NS manifestations even amongst twins. Conservative treatment of keratoconus with acute corneal hydrops in a NS patient helped largely resolve the patient's condition. We report the diverse spectrum of ocular manifestations associated with this rare congenital disorder.
authors.forename: Anna
authors.initials: A
authors.lastname: Lee
authors.affiliation: Department of Surgery, Mercer University School of Medicine, Middle Georgia Ophthalmology, Medical Center of Central Georgia, Macon, GA, USA.
authors.forename: Monali V
authors.initials: MV
authors.lastname: Sakhalkar
mesh_terms: D000208:Acute Disease; D003315:Cornea / Q000473:pathology*; D015715:Corneal Edema / Q000175:diagnosis / Q000209:etiology*; D019781:Corneal Topography; D004200:Diseases in Twins; D005260:Female; D006801:Humans; D007640:Keratoconus / Q000175:diagnosis / Q000209:etiology*; D009634:Noonan Syndrome / Q000150:complications*; D035781:Siblings; D014792:Visual Acuity; D055815:Young Adult