Early structural anomalies observed by high-resolution imaging in two related cases of autosomal-dominant retinitis pigmentosa

Ophthalmic Surg Lasers Imaging Retina. Sep-Oct 2014;45(5):469-473. doi: 10.3928/23258160-20140908-01.

Abstract

The authors report the use of adaptive-optics scanning laser ophthalmoscopy (AO-SLO) to investigate RHO, D190N autosomal-dominant retinitis pigmentosa in two siblings (11 and 16 years old, respectively). Each patient exhibited distinct hyperautofluorescence patterns in which the outer borders corresponded to inner segment ellipsoid band disruption. Areas within the hyperautofluorescence patterns exhibited normal photoreceptor outer segments and retinal pigment epithelium. However, AO-SLO imaging revealed noticeable spacing irregularities in the cone mosaic. AO-SLO allows researchers to characterize retinal structural abnormalities with precision so that early structural changes in retinitis pigmentosa can be identified and reconciled with genetic findings.

Publication types

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

MeSH terms

  • Adolescent
  • Child
  • Diagnosis, Differential
  • Diagnostic Imaging*
  • Female
  • Fluorescein Angiography / methods*
  • Fundus Oculi
  • Humans
  • Image Processing, Computer-Assisted*
  • Male
  • Ophthalmoscopy / methods*
  • Retinal Cone Photoreceptor Cells / pathology*
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics
  • Siblings
  • Tomography, Optical Coherence / methods*
  • Visual Acuity