title: CHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS.
abstract: OBJECTIVE
  To compare atrophy of the choroid and retina between Bietti crystalline dystrophy (BCD) patients and EYS-related retinitis pigmentosa (RP) patients with a similar degree of central visual field defects, age, and axial length (AL).
  
  
  METHODS
  Nine eyes of nine BCD patients with CYP4V2 mutations (BCD group) were examined. Moreover, we selected 10 eyes of 10 RP patients with EYS mutations matched for age, axial length, and mean deviation (measured with the 10-2 SITA standard program; EYS-RP group), and 10 eyes of 10 normal volunteers matched for age and axial length (control group). Macular thicknesses of the choroid and retina were measured via swept-source optical coherence tomography.
  
  
  RESULTS
  The macular choroid was significantly thinner in the BCD group than in the EYS-RP and control groups, although the thickness did not significantly differ between the EYS-RP and control groups. The macular retina was significantly thinner in the BCD and EYS-RP groups than in the control group, although the thickness did not significantly differ between the BCD and EYS-RP groups at most sites.
  
  
  CONCLUSIONS
  Bietti crystalline dystrophy patients with CYP4V2 mutations showed more severe macular choroid atrophy as compared to EYS-related RP patients. These different damage patterns suggest differences in choroidal expression between CYP4V2 and EYS.
authors.affiliation: Department of Ophthalmology and Visual Sciences, Kyoto University Graduate School of Medicine, Kyoto, Japan.
authors.forename: Manabu
authors.initials: M
authors.lastname: Miyata
authors.forename: Masayuki
authors.initials: M
authors.lastname: Hata
authors.forename: Sotaro
authors.initials: S
authors.lastname: Ooto
authors.forename: Ken
authors.initials: K
authors.lastname: Ogino
authors.forename: Norimoto
authors.initials: N
authors.lastname: Gotoh
authors.forename: Satoshi
authors.initials: S
authors.lastname: Morooka
authors.forename: Tomoko
authors.initials: T
authors.lastname: Hasegawa
authors.forename: Takako
authors.initials: T
authors.lastname: Hirashima
authors.forename: Masako
authors.initials: M
authors.lastname: Sugahara
authors.forename: Yoshimasa
authors.initials: Y
authors.lastname: Kuroda
authors.forename: Kenji
authors.initials: K
authors.lastname: Yamashiro
authors.forename: Nagahisa
authors.initials: N
authors.lastname: Yoshimura
mesh_terms: D000015:Abnormalities, Multiple; D000328:Adult; D000368:Aged; D001284:Atrophy / Q000473:pathology; D016570:Bruch Membrane / Q000473:pathology; D002829:Choroid / Q000473:pathology*; D003317:Corneal Dystrophies, Hereditary / Q000175:diagnosis / Q000235:genetics*; D000072470:Cytochrome P450 Family 4 / Q000235:genetics* / Q000378:metabolism; D004247:DNA / Q000235:genetics; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics* / Q000378:metabolism; D005260:Female; D006801:Humans; D008266:Macula Lutea / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D012164:Retinal Diseases / Q000175:diagnosis / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000175:diagnosis / Q000235:genetics*; D041623:Tomography, Optical Coherence
chemical_list: C533105:EYS protein, human; D005136:Eye Proteins; D004247:DNA; C505357:CYP4V2 protein, human; D000072470:Cytochrome P450 Family 4