title: Retinal pigment epithelial change and partial lipodystrophy.
abstract: Cuticular drusen and retinal pigment epithelial changes were found incidentally in a 27 year old Lebanese woman during assessment of partial lipodystrophy. Her vision was normal despite involvement of both maculae. The patient had hypocomplementaemia, but serum C3 nephritic factor was absent and renal function was normal. She had impaired glucose tolerance and a continuous infusion of glucose with model assessment (CIGMA) test revealed low normal tissue insulin sensitivity and high normal pancreatic beta cell function. Mild fasting hypertriglyceridaemia (2.0 mmol/l) may have been secondary to impaired insulin sensitivity. Endocrine function was otherwise normal apart from a completely absent growth hormone response to adequate hypoglycaemia. The simultaneous occurrence of partial lipodystrophy and retinal pigmentary epithelial and basement membrane changes appears to be a newly recognized syndrome.
authors.affiliation: Department of Medicine, Royal Postgraduate Medical School, Hammersmith Hospital, London, UK.
authors.forename: T M
authors.initials: TM
authors.lastname: Davis
authors.forename: D R
authors.initials: DR
authors.lastname: Holdright
authors.forename: W E
authors.initials: WE
authors.lastname: Schulenberg
authors.forename: R C
authors.initials: RC
authors.lastname: Turner
authors.forename: G F
authors.initials: GF
authors.lastname: Joplin
mesh_terms: D000328:Adult; D001786:Blood Glucose / Q000378:metabolism; D003178:Complement C3 Nephritic Factor / Q000378:metabolism; D005128:Eye Diseases / Q000150:complications / Q000473:pathology; D005260:Female; D005451:Fluorescein Angiography; D005951:Glucose Tolerance Test; D006801:Humans; D015228:Hypertriglyceridemia / Q000150:complications; D008060:Lipodystrophy / Q000097:blood / Q000150:complications / Q000473:pathology*; D010857:Pigment Epithelium of Eye / Q000473:pathology*
chemical_list: D001786:Blood Glucose; D003178:Complement C3 Nephritic Factor