Longitudinal structural changes in late-onset retinal degeneration

Catherine Cukras, Jason Flamendorf, Wai T. Wong, Radha Ayyagari, Denise Cunningham, Paul A. Sieving

Research output: Contribution to journalArticlepeer-review

19 Scopus citations


Purpose: 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. Conclusion: 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.

Original languageEnglish (US)
Pages (from-to)2348-2356
Number of pages9
Issue number12
StatePublished - Dec 1 2016
Externally publishedYes


  • fundus autofluorescence
  • late-onset retinal degeneration
  • optical coherence tomography
  • reticular pseudodrusen
  • retinal atrophy

ASJC Scopus subject areas

  • Ophthalmology


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