Shared Features in Retinal Disorders With Involvement of Retinal Pigment Epithelium

Invest Ophthalmol Vis Sci. 2021 Jun 1;62(7):15. doi: 10.1167/iovs.62.7.15.

Abstract

When using spectral domain optical coherence tomography (SD-OCT) to inform the status of outer retina, we have noted discrete hyperreflective lesions extending through photoreceptor-attributable bands that have a similar presentation in multiple retinal diseases. These lesions present as either corrugated thickenings of interdigitation zone and ellipsoid zone bands or in later stages as rectangular or pyramidal shaped foci that extend radially through photoreceptor cell-attributable bands. In ABCA4-related and peripherin-2/RDS-disease (PRPH2/RDS), monogenic forms of retinopathy caused by mutations in proteins expressed in photoreceptor cells, these punctate lesions colocalize with fundus flecks in en face images. In fundus albipunctatus and retinitis punctata albescens, diseases caused by mutations in genes (retinol dehydrogenase 5, RDH5; and retinaldehyde-binding protein 1, RLBP1) encoding proteins of the visual cycle, these lesions manifest as white dot-like puncta. Similar aberrations in photoreceptor cell-attributable SD-OCT reflectivity layers manifest as reticular pseudodrusen (RPD) in short-wavelength fundus autofluorescence and near-infrared fundus autofluorescence fundus images and are linked to age-related macular degeneration a complex disease. Despite differences in the etiologies of retinal diseases presenting as fundus flecks, dots and RPD, underlying degenerative processes in photoreceptor cells are signified in SD-OCT scans by the loss of structural features that would otherwise define healthy photoreceptor cells at these foci.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics*
  • Adolescent
  • Alcohol Oxidoreductases / genetics*
  • Carrier Proteins / genetics*
  • Correlation of Data
  • Diagnosis, Differential
  • Disease Progression
  • Female
  • Fundus Oculi
  • Humans
  • Male
  • Mutation
  • Optical Imaging / methods*
  • Retinal Diseases* / diagnostic imaging
  • Retinal Diseases* / genetics
  • Retinal Diseases* / physiopathology
  • Retinal Drusen / pathology
  • Retinal Drusen / physiopathology
  • Retinal Pigment Epithelium* / pathology
  • Retinal Pigment Epithelium* / physiopathology
  • Tomography, Optical Coherence / methods

Substances

  • 11-cis-retinal-binding protein
  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • Carrier Proteins
  • Alcohol Oxidoreductases
  • retinol dehydrogenase 5