Buphthalmos in neurofibromatosis: is it an expression of regional giantism?
A case of buphthalmos and regional giantism in neurofibromatosis with the characteristics of the Francois syndrome is reported. Difficulties of early diagnosis are emphasized. A discussion of the mechanisms which may produce buphthalmos in neurofibromatosis is presented. We propose that buphthalmos in neurofibromatosis may be primarily an expression of regional giantism rather than a consequence of uncontrolled intraocular pressure.
D000328:Adult; D005123:Eye / Q000473:pathology; D005260:Female; D005877:Gigantism / Q000150:complications* / Q000473:pathology; D006801:Humans; D006871:Hydrophthalmos / Q000209:etiology* / Q000473:pathology; D006965:Hyperplasia; D007231:Infant, Newborn; D008297:Male; D009456:Neurofibromatosis 1 / Q000150:complications* / Q000473:pathology; D009900:Optic Nerve / Q000473:pathology; D009915:Orbit / Q000002:abnormalities; D011247:Pregnancy