Evaluation of multimodal imaging in carriers of X-linked retinitis pigmentosa

Exp Eye Res. 2013 Aug:113:41-8. doi: 10.1016/j.exer.2013.05.003. Epub 2013 May 10.

Abstract

The aim of this study was to investigate visualization of the tapetal-like reflex using current imaging modalities and evaluate SD-OCT changes in known carriers of X-linked retinitis pigmentosa (XLRP); the objective being the development of an optimal protocol for clinicians to identify carriers. Ten XLRP carriers (19 eyes) were examined using color fundus photography, 488 nm reflectance (488-R), near-infrared reflectance (NIR-R), autofluorescence (AF) and spectral domain optical coherence tomography (SD-OCT) imaging (Spectralis SLO-OCT, Heidelberg). Horizontal line scans through the fovea were acquired in all subjects and in a group of 10 age-similar controls. Peripheral SD-OCT scans (extending to 27.5° eccentricity) were also acquired in both eyes of 7 carriers. MP-1 microperimetery (10-2 pattern; Nidek) was performed in one eye of each carrier. For the XLRP carriers, a tapetal reflex was observed with all imaging modalities in 8 of 19 eyes. It had the same retinal location on color fundus, 488-R and NIR-R imaging but a different location on AF. The tapetal reflex was most easily detected in 488-R images. The horizontal foveal SD-OCT scans were qualitatively normal, but measurements showed significant outer retinal layer thinning in all eyes. Additionally, the 14 eyes with peripheral SD-OCTs demonstrated patchy loss of the inner segment ellipsoid band. Microperimetry exhibited patchy visual sensitivity loss in 9 eyes. Full field ERGs were variable, ranging from normal to severely abnormal rod and cone responses. Our findings suggest that an optimal protocol for identifying carriers of XLRP should include 488-R imaging in a multimodal approach. Peripheral SD-OCT imaging and central retinal layer quantification revealed significant structural abnormalities.

Keywords: X-linked retinitis pigmentosa; microperimetry; scanning laser ophthalmoscope; spectral domain optical coherence tomograph; tapetal-like reflex.

Publication types

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

MeSH terms

  • Adult
  • Diagnostic Techniques, Ophthalmological*
  • Electroretinography
  • Eye Proteins / genetics
  • Female
  • Fundus Oculi
  • Genetic Carrier Screening*
  • Genetic Diseases, X-Linked / diagnosis*
  • Genetic Diseases, X-Linked / genetics
  • Humans
  • Middle Aged
  • Ophthalmoscopy
  • Pedigree
  • Retina / pathology*
  • Retinitis Pigmentosa / diagnosis*
  • Retinitis Pigmentosa / genetics
  • Tomography, Optical Coherence*
  • Visual Field Tests

Substances

  • Eye Proteins
  • RPGR protein, human