title: UTILIZATION OF FUNDUS AUTOFLUORESCENCE, SPECTRAL DOMAIN OPTICAL COHERENCE TOMOGRAPHY, AND ENHANCED DEPTH IMAGING IN THE CHARACTERIZATION OF BIETTI CRYSTALLINE DYSTROPHY IN DIFFERENT STAGES.
abstract: OBJECTIVE
  To characterize Bietti crystalline dystrophy (BCD) in different stages using multiple imaging modalities.
  
  
  METHODS
  Sixteen participants clinically diagnosed as BCD were included in the retrospective study and were categorized into 3 stages according to fundus photography. Eleven patients were genetically confirmed. Fundus autofluorescence, spectral domain optical coherence tomography, and enhanced depth imaging features of BCD were analyzed.
  
  
  RESULTS
  On fundus autofluorescence, the abnormal autofluorescence was shown to enlarge in area and decrease in intensity with stages. Using spectral domain optical coherence tomography, the abnormalities in Stage 1 were observed to localize in outer retinal layers, whereas in Stage 2 and Stage 3, more extensive retinal atrophy was seen. In enhanced depth imaging, the subfoveal choroidal layers were delineated clearly in Stage 1; in Stage 2, destructions were primarily found in the choriocapillaris with associated alterations in the outer vessels; Stage 3 BCD displayed severe choroidal thinning. Choroidal neovascularization and macular edema were exhibited with high incidence. IVS6-8del17bp/inGC of the CYP4V2 gene was the most common mutant allele.
  
  
  CONCLUSIONS
  Noninvasive fundus autofluorescence, spectral domain optical coherence tomography, and enhanced depth imaging may help to characterize the chorioretinal pathology of BCD at different degrees, and therefore, we propose staging of BCD depending on those methods. Physicians should be cautious of the vision-threatening complications of the disease.
authors.affiliation: *Department of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology & Visual Sciences Key Lab, Beijing, China; and †Beijing Institute of Ophthalmology, Beijing Tongren Eye Center, Beijing Tongren Hospital, Capital Medical University, Beijing Ophthalmology and Visual Science Key Lab, Beijing, China.
authors.forename: Qian
authors.initials: Q
authors.lastname: Li
authors.forename: Yang
authors.initials: Y
authors.lastname: Li
authors.forename: Xiaohui
authors.initials: X
authors.lastname: Zhang
authors.forename: Zhangxing
authors.initials: Z
authors.lastname: Xu
authors.forename: Xiaoqing
authors.initials: X
authors.lastname: Zhu
authors.forename: Kai
authors.initials: K
authors.lastname: Ma
authors.forename: Haicheng
authors.initials: H
authors.lastname: She
authors.forename: Xiaoyan
authors.initials: X
authors.lastname: Peng
mesh_terms: D000328:Adult; D001284:Atrophy; D020256:Choroidal Neovascularization / Q000473:pathology; D003317:Corneal Dystrophies, Hereditary / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics; D003577:Cytochrome P-450 Enzyme System / Q000235:genetics; D000072470:Cytochrome P450 Family 4; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D064847:Multimodal Imaging; D061848:Optical Imaging; D012160:Retina / Q000473:pathology; D012164:Retinal Diseases / Q000145:classification* / Q000175:diagnosis* / Q000235:genetics; D015593:Retinal Drusen / Q000473:pathology; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D055815:Young Adult
chemical_list: D003577:Cytochrome P-450 Enzyme System; C505357:CYP4V2 protein, human; D000072470:Cytochrome P450 Family 4