ABSTRACT
PURPOSE: To compare near-infrared autofluorescence (NIR-AF) and short-wavelength (SW) AF in retinitis pigmentosa (RP) and assess their relationships to underlying retinal structure and visual function. METHODS: SW-AF, NIR-AF, and spectral domain optical coherence tomography (SD-OCT) images were acquired from 31 patients (31 eyes) with RP and registered to each other. Microperimetry was performed on a subset of 12 patients. For both SW-AF and NIR-AF images, three independent observers measured the area enclosed by the outer border of the hyperautofluorescent ring and the distance from the fovea to the outer and inner border of the ring. For SD-OCT images, the distance from the fovea to the location where the inner segment ellipsoid (ISe) band became undetectable was measured. RESULTS: All eyes had a hyperautofluorescent ring on both SW-AF and NIR-AF. The position of the outer border of the ring was similar for both modalities. On NIR-AF the signal outside the ring was lower than inside the ring, resulting in a high contrast between the two areas. Also, the inner border of the ring was closer to the fovea on NIR-AF than SW-AF, corresponding to a location on SD-OCT where the ISe band was at least partially intact. Visual sensitivity was relatively preserved within the ring, reduced across the ring, and markedly decreased or nonrecordable outside the ring. CONCLUSIONS: SW-AF and NIR-AF are both useful for monitoring disease progression in RP; however, NIR-AF may have advantages clinically and could unveil a process that precedes the formation of fluorophores that emit the SW-AF signal.
Subject(s)
Fluorescein Angiography/methods , Fovea Centralis/pathology , Retinitis Pigmentosa/physiopathology , Visual Fields/physiology , Adolescent , Adult , Aged , Child , Cross-Sectional Studies , Electroretinography , Female , Fundus Oculi , Humans , Male , Middle Aged , Retinitis Pigmentosa/pathology , Tomography, Optical Coherence/methods , Visual Field Tests , Young AdultABSTRACT
Rhodopsin is the G protein-coupled receptor in charge of initiating signal transduction in rod photoreceptor cells upon the arrival of the photon. D190N (Rho(D190n)), a missense mutation in rhodopsin, causes autosomal-dominant retinitis pigmentosa (adRP) in humans. Affected patients present hyperfluorescent retinal rings and progressive rod photoreceptor degeneration. Studies in humans cannot reveal the molecular processes causing the earliest stages of the condition, thus necessitating the creation of an appropriate animal model. A knock-in mouse model with the D190N mutation was engineered to study the pathogenesis of the disease. Electrophysiological and histological findings in the mouse were similar to those observed in human patients, and the hyperfluorescence pattern was analogous to that seen in humans, confirming that the D190N mouse is an accurate model for the study of adRP.