VERY EARLY DISEASE MANIFESTATIONS OF MACULAR TELANGIECTASIA TYPE 2

P. Charbel Issa, T.F. Heeren, E.H. Kupitz, F.G. Holz, T.T. Berendschot

Research output: Contribution to journalArticleAcademicpeer-review

3 Citations (Scopus)

Abstract

BACKGROUND: To report very early morphologic and functional alterations in patients with macular telangiectasia type 2. METHODS: Patients with asymmetric disease manifestations, in whom retinal alterations characteristic for macular telangiectasia type 2 were present in one but not in the apparently unaffected fellow eye, underwent multimodal imaging and functional testing (microperimetry, visual acuity, reading ability, Amsler test). RESULTS: Fellow eyes not allowing the diagnosis of macular telangiectasia type 2 based on hitherto diagnostic standards consistently showed a severely reduced directional cone reflectance (Stiles-Crawford effect). Optical coherence tomography revealed an asymmetric configuration of the foveal pit with focal temporal thinning most pronounced at 1 degrees eccentricity. Topographically related, macular pigment optical density was reduced in a small wedge-shaped temporal paracentral sector, resulting in an increased signal on fundus autofluorescence and fluorescein angiography imaging. No functional deficits were detectable in fellow eyes. Haidinger brushes were perceived in the fellow eye but not in the affected index eye with pronounced loss of macular pigment. CONCLUSION: Specific morphologic alterations precede vascular alterations and functional deficits in macular telangiectasia type 2. The described alterations indicate a primarily degenerative process with a secondary retinal vascular phenotype, and may be helpful for early identification of patients and affected family members.
Original languageEnglish
Pages (from-to)524–534
Number of pages11
JournalRetina-The Journal of Retinal and Vitreous Diseases
Volume36
Issue number3
Early online date1 Jan 2015
DOIs
Publication statusPublished - Mar 2016

Keywords

  • asymmetry
  • disease staging
  • early changes
  • fundus autofluorescence
  • juxtafoveolar telangiectasis
  • macular pigment
  • macular telangiectasia type 2
  • optical coherence tomography
  • reflectometry
  • OPTICAL COHERENCE TOMOGRAPHY
  • JUXTAFOVEOLAR RETINAL TELANGIECTASIS
  • CONE-PHOTORECEPTOR DIRECTIONALITY
  • FUNDUS REFLECTOMETRY
  • FIBER LAYER
  • DENSITY
  • STILES
  • REFLECTANCE
  • RECOVERY
  • IMAGES

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