title: LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.
abstract: OBJECTIVE
  To characterize longitudinal structural changes in early stages of late-onset retinal degeneration to investigate pathogenic mechanisms.
  
  
  METHODS
  Two affected siblings, both with a S163R missense mutation in the causative gene C1QTNF5, were followed for 8+ years. Color fundus photos, fundus autofluorescence images, near-infrared reflectance fundus images, and spectral domain optical coherence tomography scans were acquired during follow-up.
  
  
  RESULTS
  Both patients, aged 45 and 50 years, had good visual acuities (>20/20) in the context of prolonged dark adaptation. Baseline color fundus photography demonstrated yellow-white, punctate lesions in the temporal macula that correlated with a reticular pattern on fundus autofluorescence and near-infrared reflectance imaging. Baseline spectral domain optical coherence tomography imaging revealed subretinal deposits that resemble reticular pseudodrusen described in age-related macular degeneration. During follow-up, these affected areas developed confluent thickening of the retinal pigment epithelial layer and disruption of the ellipsoid zone of photoreceptors before progressing to overt retinal pigment epithelium and outer retinal atrophy.
  
  
  CONCLUSIONS
  Structural changes in early stages of late-onset retinal degeneration, revealed by multimodal imaging, resemble those of reticular pseudodrusen observed in age-related macular degeneration and other retinal diseases. Longitudinal follow-up of these lesions helps elucidate their progression to frank atrophy and may lend insight into the pathogenic mechanisms underlying diverse retinal degenerations.
authors.affiliation: *National Eye Institute, National Institutes of Health, Bethesda, Maryland; and †Shiley Eye Institute, University of California San Diego, La Jolla, California.
authors.forename: Catherine
authors.initials: C
authors.lastname: Cukras
authors.forename: Jason
authors.initials: J
authors.lastname: Flamendorf
authors.forename: Wai T
authors.initials: WT
authors.lastname: Wong
authors.forename: Radha
authors.initials: R
authors.lastname: Ayyagari
authors.forename: Denise
authors.initials: D
authors.lastname: Cunningham
authors.forename: Paul A
authors.initials: PA
authors.lastname: Sieving
mesh_terms: D000328:Adult; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D008875:Middle Aged; D064847:Multimodal Imaging; D009887:Ophthalmoscopy; D012162:Retinal Degeneration / Q000473:pathology*; D055213:Retinal Pigment Epithelium / Q000473:pathology; D041623:Tomography, Optical Coherence