title: Pathologic Changes of Cone Photoreceptors in Eyes With Occult Macular Dystrophy.
abstract: OBJECTIVE
  Occult macular dystrophy (OMD) is an inherited retinal disease characterized by a progressive decrease of vision and appearance of normal fundus. To determine the pathologic features of OMD, we investigated the alternation of the photoreceptors using quantitative image analysis.
  
  
  METHODS
  We studied 22 eyes of 11 OMD patients. Three of them had a mutation (R45W) in RP1L1. The relative intensities of the ellipsoid zone in the spectral-domain optical coherence tomography (SD-OCT) images and the density of the cone photoreceptors in the adaptive optics (AO) fundus images of the OMD patients were compared to those of normal controls.
  
  
  RESULTS
  The relative intensities of the ellipsoid zone in the SD-OCT images of patients with OMD were significantly lower (P < 0.001) by an average of 16% compared to that of the normal controls. Normal cone mosaics were not observed in the AO images of the macula in the eyes with OMD. The mean ± SD of cone density of the 9 OMD patients was 1970 ± 884 cells/mm2 at 2°, 1124 ± 483 cells/mm2 at 3°, and 1288 ± 715 cells/mm2 at 4° nasal to the fovea. The cone densities at 2°, 3°, and 4° nasal to the fovea of OMD were significantly lower than those of the normal controls (P < 0.001).
  
  
  CONCLUSIONS
  A sparse array of cone photoreceptors with significantly reduced density of the macula is one of the morphologic features of OMD.
authors.affiliation: Department of Ophthalmology Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Ayami
authors.initials: A
authors.lastname: Nakanishi
authors.affiliation: Department of Ophthalmology Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Shinji
authors.initials: S
authors.lastname: Ueno
authors.affiliation: Department of Ophthalmology Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Kenichi
authors.initials: K
authors.lastname: Kawano
authors.affiliation: Department of Ophthalmology Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Yasuki
authors.initials: Y
authors.lastname: Ito
authors.affiliation: Department of Ophthalmology Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Taro
authors.initials: T
authors.lastname: Kominami
authors.affiliation: Department of Ophthalmology Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Shunsuke
authors.initials: S
authors.lastname: Yasuda
authors.affiliation: Department of Ophthalmology, Mie University Graduate School of Medicine, Tsu, Japan.
authors.forename: Mineo
authors.initials: M
authors.lastname: Kondo
authors.affiliation: National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
authors.forename: Kazushige
authors.initials: K
authors.lastname: Tsunoda
authors.affiliation: National Institute of Sensory Organs, National Hospital Organization Tokyo Medical Center, Tokyo, Japan.
authors.forename: Takeshi
authors.initials: T
authors.lastname: Iwata
authors.affiliation: Department of Ophthalmology Nagoya University Graduate School of Medicine, Nagoya, Japan.
authors.forename: Hiroko
authors.initials: H
authors.lastname: Terasaki
mesh_terms: D000328:Adult; D000368:Aged; D018450:Disease Progression; D004596:Electroretinography; D005260:Female; D005451:Fluorescein Angiography; D005654:Fundus Oculi; D006801:Humans; D008268:Macular Degeneration / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009887:Ophthalmoscopy; D017949:Retinal Cone Photoreceptor Cells / Q000473:pathology*; D012189:Retrospective Studies; D041623:Tomography, Optical Coherence; D014792:Visual Acuity; D055815:Young Adult