title: The characterization of functional disturbances in Chinese patients with Bietti's crystalline dystrophy at different fundus stages.
abstract: OBJECTIVE
  The aim of this study was to characterize the functional and clinical disturbances and screen the optimal functional tests in assessing Bietti's crystalline dystrophy (BCD) patients by a cross-sectional method.
  
  
  METHODS
  The clinical characteristics of BCD were studied in 15 Chinese patients using fundoscopy, fundus fluorescein angiography (FFA), and autofluorescence (AF). The functional features were evaluated by full-field electroretinography (fERG), 85º and 30º perimetry, multifocal ERG (mERG), and chromatic pupillometry.
  
  
  RESULTS
  The 15 patients were separated into three clinical stages according to their fundus features. fERG- and mERG- showed reduced reponses in the early stages. Substages could be further defined according to the fERG results in the intermediate stages. Reduced pupillary light reflex (PLR) activities with blue-and white-light stumili existed in all patients. The most reduced PLR activities were elicited in the advanced stage of patients who had other nonresponsive functional tests.
  
  
  CONCLUSIONS
  This study identified the most sensitive functional methods for assessing BCD patients, and the significance of PLR in the advanced stages. In addition, the defined-substages can help us understand the disease more clearly.
authors: Southwest Hospital, Southwest Eye Hospital, Third Military Medical University, Chongqing 400038, China.
authors: Dan Ning
authors: DN
authors: Liu
authors: Yong
authors: Y
authors: Liu
authors: Xiao Hong
authors: XH
authors: Meng
authors: Zheng Qin
authors: ZQ
authors: Yin
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D003430:Cross-Sectional Studies; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D000072470:Cytochrome P450 Family 4; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009887:Ophthalmoscopy; D011446:Prospective Studies; D012025:Reflex, Pupillary; D012160:Retina / Q000503:physiopathology; D012164:Retinal Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D014792:Visual Acuity / Q000502:physiology; D058609:Visual Field Tests; D014794:Visual Fields / Q000502:physiology
chemical_list: D003577:Cytochrome P-450 Enzyme System; C505357:CYP4V2 protein, human; D000072470:Cytochrome P450 Family 4