title: High-Resolution Adaptive Optics Retinal Image Analysis at Early Stage Central Areolar Choroidal Dystrophy With PRPH2 Mutation.
abstract: To report the clinical features of Japanese patients at Stage 1 and 2 of central areolar choroidal dystrophy (CACD).
  
  
  
  Five family members had comprehensive ophthalmic examinations including adaptive optics (AO) retinal imaging. Mutation analysis of the PRPH2 gene was performed by Sanger sequencing. The protocol conformed to the tenets of the Declaration of Helsinki and was approved by the institutional review board of The Jikei University School of Medicine.
  
  
  
  Four family members had a heterozygous PRPH2 mutation, p.R172Q; however, one member with a mutation did not show any ophthalmological abnormalities. Two patients had mild parafoveal retinal dystrophy and a reduction of cone density determined by AO analysis.
  
  
  
  The results indicate that the parafoveal cone photoreceptors can be affected even at the early stage of CACD. [Ophthalmic Surg Lasers Imaging Retina. 2016;47:1115-1126.].
authors.forename: Kiyoko
authors.initials: K
authors.lastname: Gocho
authors.forename: Keiichiro
authors.initials: K
authors.lastname: Akeo
authors.forename: Naoko
authors.initials: N
authors.lastname: Itoh
authors.forename: Shuhei
authors.initials: S
authors.lastname: Kameya
authors.forename: Takaaki
authors.initials: T
authors.lastname: Hayashi
authors.forename: Satoshi
authors.initials: S
authors.lastname: Katagiri
authors.forename: Tamaki
authors.initials: T
authors.lastname: Gekka
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Ohkuma
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Tsuneoka
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Takahashi
mesh_terms: D000328:Adult; D015862:Choroid Diseases / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism; D018450:Disease Progression; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography / Q000295:instrumentation*; D005654:Fundus Oculi; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D019721:Ophthalmoscopes; D055095:Optics and Photonics; D010375:Pedigree; D064531:Peripherins / Q000235:genetics* / Q000378:metabolism; D012160:Retina / Q000473:pathology* / Q000503:physiopathology; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology; D041623:Tomography, Optical Coherence / Q000295:instrumentation*; D055815:Young Adult
chemical_list: C578997:PRPH2 protein, human; D064531:Peripherins