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

• Published in: Investigative ophthalmology & visual science Vol. 60; no. 12; pp. 3752 - 3761
• Main Authors: Paavo, Maarjaliis, Carvalho, Jr, Jose R L, Lee, Winston, Sengillo, Jesse D, Tsang, Stephen H, Sparrow, Janet R
• Format: Journal Article
• Language: English
• Published: United States The Association for Research in Vision and Ophthalmology 03-09-2019
• Subjects: Adolescent; Adult; Aged; Child; Choroideremia - diagnostic imaging; Choroideremia - genetics; Choroideremia - pathology; Female; Fundus Oculi; Heterozygote; Humans; Infrared Rays; Male; Middle Aged; Multimodal Imaging; Optical Imaging; Retina; Retina - pathology; Retinal Pigment Epithelium - diagnostic imaging; Retinal Pigment Epithelium - pathology; Retrospective Studies; Tomography, Optical Coherence; Visual Acuity - physiology
• ISSN: 1552-5783; 0146-0404; 1552-5783
• DOI: 10.1167/iovs.19-27366

To ascertain cellular constituents within islands of preserved retina in choroideremia (CHM) by multimodal imaging.
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.
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.
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.