Colobomata associated with Noonan's syndrome.
A patient with Noonan's syndrome and fundal colobomata in both eyes is described. To our knowledge, this is the first report of the association of colobomata with Noonan's syndrome. Although the patient had poor sight since early childhood and dyspnea on exertion as a teenager, the diagnosis of Noonan's syndrome was not made until early adulthood. We hope this report will encourage recognition of this syndrome and its implications at an earlier stage.
Kleanthous
L
L
University College Hospital, London, UK.
Cruz
D
D
D'Graham
E
E
Efthimiou
J
J
D000328:Adult; D003103:Coloboma / Q000150:complications* / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D009634:Noonan Syndrome / Q000150:complications*; D009898:Optic Disk / Q000002:abnormalities* / Q000473:pathology