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LONGITUDINAL STRUCTURAL CHANGES IN LATE-ONSET RETINAL DEGENERATION.

Catherine Cukras1, Jason Flamendorf, Wai T Wong

  • 1*National Eye Institute, National Institutes of Health, Bethesda, Maryland; and †Shiley Eye Institute, University of California San Diego, La Jolla, California.

Retina (Philadelphia, Pa.)
|July 9, 2016
PubMed
Summary
This summary is machine-generated.

Structural changes in early-onset retinal degeneration, similar to age-related macular degeneration, were observed in patients with a C1QTNF5 gene mutation. Multimodal imaging revealed progression from subretinal deposits to retinal atrophy over time.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Retinal Imaging

Background:

  • Late-onset retinal degeneration (LORD) is a group of inherited conditions affecting photoreceptors.
  • Understanding the early pathogenic mechanisms of LORD is crucial for developing effective treatments.
  • Genetic mutations, such as in the C1QTNF5 gene, are implicated in specific forms of LORD.

Observation:

  • Two siblings with C1QTNF5 S163R mutation followed for 8+ years.
  • Multimodal imaging (color fundus photos, autofluorescence, NIR, SD-OCT) used for characterization.
  • Initial findings: punctate lesions, reticular patterns, subretinal deposits resembling reticular pseudodrusen.

Findings:

  • Longitudinal changes included retinal pigment epithelial thickening and photoreceptor ellipsoid zone disruption.
  • Progression to overt retinal pigment epithelium and outer retinal atrophy observed.
  • Early structural changes mimic those seen in age-related macular degeneration (AMD).

Implications:

  • Multimodal imaging is crucial for characterizing early retinal degeneration.
  • Understanding lesion progression provides insight into pathogenic mechanisms of retinal diseases.
  • Findings may inform therapeutic strategies for inherited retinal degenerations and AMD.