Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers

Show full item record



Permalink

http://hdl.handle.net/10138/306580

Citation

Paavo , M , Carvalho , J R L , Lee , W , Sengillo , J D , Tsang , S H & Sparrow , J R 2019 , ' Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers ' , Investigative Ophthalmology & Visual Science , vol. 60 , no. 12 , pp. 3752-3761 . https://doi.org/10.1167/iovs.19-27366

Title: Patterns and Intensities of Near-Infrared and Short-Wavelength Fundus Autofluorescence in Choroideremia Probands and Carriers
Author: Paavo, Maarjaliis; Carvalho, Jose R. L.; Lee, Winston; Sengillo, Jesse D.; Tsang, Stephen H.; Sparrow, Janet R.
Contributor: University of Helsinki, Silmäklinikka
Date: 2019-09
Language: eng
Number of pages: 10
Belongs to series: Investigative Ophthalmology & Visual Science
ISSN: 0146-0404
URI: http://hdl.handle.net/10138/306580
Abstract: PURPOSE. To ascertain cellular constituents within islands of preserved retina in choroideremia (CHM) by multimodal imaging. METHODS. CHM probands (16) and female carriers (9) of CHM were studied. Near-infrared autofluorescence (NIR-AF; 787-nm excitation; emission, > 830 nm), short-wavelength autofluorescence (SW-AF; 488-nm excitation, 500-to 680-nm emission), and spectral-domain optical coherence tomography (SD-OCT) images were acquired with a confocal scanning laser ophthalmoscope. SW-AF intensities were measured by quantitative fundus autofluorescence (qAF), and NIR-AF intensity profiles were analyzed. Retinal thicknesses and visual acuity were measured. RESULTS. In 19 of 31 eyes of affected males, islands of preserved NIR-AF signal were also visible as fluorescence signal in SW-AF images. Notable in 12 eyes were areas of speckled SW-AF that was hypoautofluorescent in the NIR-AF image. Islands of preserved NIR-AF and SW-AF signal were often associated with the presence of visible but thinned outer nuclear layer and discontinuous interdigitation zone, ellipsoid zone, and external limiting membrane. NIR-AF profiles revealed that even in areas of preserved retina, the NIR-AF signal from retinal pigment epithelium (RPE) melanin is greatly reduced. qAF was reduced overall. The fundus of carriers was characterized by a mosaicism in which patches of reduced NIR-AF colocalized with reduced SW-AF. CONCLUSIONS. In CHM-affected males, the presence of RPE was indicated by an NIR-AF signal and the absence of hypertransmission of OCT signal into the choroid. RPE preservation was associated with better visual acuity. In carriers, patches of reduced SW-AF colocalized with decreased NIR-AF and qAF was severely reduced.
Subject: X-linked choroideremia
quantitative fundus autofluorescence
near-infrared autofluorescence
RETINAL-PIGMENT EPITHELIUM
KNOCKOUT MOUSE MODELS
NATURAL-HISTORY
GENE-THERAPY
RAB GTPASES
PHOTORECEPTORS
DEGENERATION
MUTATIONS
3125 Otorhinolaryngology, ophthalmology
Rights:


Files in this item

Total number of downloads: Loading...

Files Size Format View
i1552_5783_60_12_3752_1_.pdf 1.618Mb PDF View/Open

This item appears in the following Collection(s)

Show full item record