High-resolution optical coherence tomography, autofluorescence, and infrared reflectance imaging in Sjögren reticular dystrophy

Retina. Nov-Dec 2013;33(10):2118-25. doi: 10.1097/IAE.0b013e3182899274.

Abstract

Purpose: To describe the phenotype of three cases of Sjögren reticular dystrophy in detail, including high-resolution optical coherence tomography, autofluorescence imaging, and near-infrared reflectance imaging.

Methods: Two unrelated teenagers were independently referred for ophthalmologic evaluation. Both underwent a full ophthalmologic workup, including electrophysiologic and extensive imaging with spectral-domain optical coherence tomography, autofluorescence imaging, and near-infrared reflectance imaging. In addition, mutation screening of ABCA4, PRPH2, and the mitochondrial tRNA gene was performed in Patient 1. Subsequently, the teenage sister of Patient 2 was examined.

Results: Strikingly similar phenotypes were present in these three patients. Fundoscopy showed bilateral foveal pigment alterations, and a lobular network of deep retinal, pigmented deposits throughout the posterior pole, tapering toward the midperiphery, with relative sparing of the immediate perifoveal macula and peripapillary area. This network is mildly to moderately hyperautofluorescent on autofluorescence and bright on near-infrared reflectance imaging. Optical coherence tomography showed abnormalities of the retinal pigment epithelium-Bruch membrane complex, photoreceptor outer segments, and photoreceptor inner/outer segment interface. The results of retinal function test were entirely normal. No molecular cause was detected in Patient 1.

Conclusion: Imaging suggested that the lobular network of deep retinal deposits in Sjögren reticular dystrophy is the result of accumulation of both pigment and lipofuscin between photoreceptors and retinal pigment epithelium, as well as within the retinal pigment epithelium.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Child
  • DNA, Mitochondrial / genetics
  • Female
  • Fluorescein Angiography*
  • Humans
  • Infrared Rays
  • Male
  • Mitochondria / genetics
  • Multimodal Imaging*
  • Peripherins / genetics
  • RNA, Transfer / genetics
  • Retinal Dystrophies / genetics
  • Retinal Dystrophies / pathology*
  • Retinal Pigment Epithelium / pathology*
  • Tomography, Optical Coherence*

Substances

  • ABCA4 protein, human
  • ATP-Binding Cassette Transporters
  • DNA, Mitochondrial
  • Peripherins
  • RDS protein, human
  • RNA, Transfer

Supplementary concepts

  • Reticular Dystrophy Of Retinal Pigment Epithelium