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Fluorescence Adaptive Optics Scanning Laser Ophthalmoscope for Detection of Reduced Cones and Hypoautofluorescent Spots in Fundus Albipunctatus

Fluorescence Adaptive Optics Scanning Laser Ophthalmoscope for Detection of Reduced Cones and... ImportanceFundus albipunctatus (FA) is a form of congenital stationary night blindness characterized by yellow-white spots, which were classically described as subretinal. Although night blindness and delayed dark adaptation are hallmarks of this condition, recent studies have described a macular phenotype, particularly among older patients. Using a fluorescence adaptive optics scanning laser ophthalmoscope (FAOSLO), this study provides in vivo morphologic data at the cellular level in FA. ObjectiveTo study the cone photoreceptors and the albipunctate spots in FA at single-cell resolution. Design, Setting, and ParticipantA woman in her 30s with FA underwent a complete ophthalmic examination, including conventional imaging tests, at the University of Rochester. A FAOSLO was used to obtain infrared reflectance images of the cone mosaic at the central fovea and along the superior and temporal meridians to 10° eccentricity. Cone density was measured at the foveal center, and cone spacing was calculated in sampling windows eccentrically. In the area of the albipunctate spots, autofluorescence FAOSLO images (excitation, 561 nm; emission, 624 Δ 40 nm) were simultaneously obtained. Main Outcomes and MeasuresStructural appearance of cones, cone density and spacing, and reflectance and autofluorescence of albipunctate spots. ResultsCone density was reduced to 70% of the lower limit of the normal range at the foveal center (78.7 × 103 cones/mm2; mean [SD] reference range, 199 [87] × 103 cones/mm2), and cone spacing was increased eccentrically to 10° (sign test, P = .045). Individual cone central core reflectances appeared dim, suggesting loss of photoreceptor outer segments. The albipunctate spots were hypoautofluorescent. No photoreceptors or retinal pigment epithelium cells were identified at the locations of the albipunctate spots. Conclusions and RelevanceAlthough the predominant clinical symptom of night blindness and the electroretinography results suggest a primary rod dysfunction, examination with a FAOSLO demonstrates that cone density is also reduced. This finding may represent an early sign of progression to macular phenotype in FA. The hypoautofluorescence suggests that the albipunctate spots do not represent lipofuscin. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png JAMA Ophthalmology American Medical Association

Fluorescence Adaptive Optics Scanning Laser Ophthalmoscope for Detection of Reduced Cones and Hypoautofluorescent Spots in Fundus Albipunctatus

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References (39)

Publisher
American Medical Association
Copyright
Copyright 2014 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.
ISSN
2168-6165
eISSN
2168-6173
DOI
10.1001/jamaophthalmol.2014.1079
pmid
24922193
Publisher site
See Article on Publisher Site

Abstract

ImportanceFundus albipunctatus (FA) is a form of congenital stationary night blindness characterized by yellow-white spots, which were classically described as subretinal. Although night blindness and delayed dark adaptation are hallmarks of this condition, recent studies have described a macular phenotype, particularly among older patients. Using a fluorescence adaptive optics scanning laser ophthalmoscope (FAOSLO), this study provides in vivo morphologic data at the cellular level in FA. ObjectiveTo study the cone photoreceptors and the albipunctate spots in FA at single-cell resolution. Design, Setting, and ParticipantA woman in her 30s with FA underwent a complete ophthalmic examination, including conventional imaging tests, at the University of Rochester. A FAOSLO was used to obtain infrared reflectance images of the cone mosaic at the central fovea and along the superior and temporal meridians to 10° eccentricity. Cone density was measured at the foveal center, and cone spacing was calculated in sampling windows eccentrically. In the area of the albipunctate spots, autofluorescence FAOSLO images (excitation, 561 nm; emission, 624 Δ 40 nm) were simultaneously obtained. Main Outcomes and MeasuresStructural appearance of cones, cone density and spacing, and reflectance and autofluorescence of albipunctate spots. ResultsCone density was reduced to 70% of the lower limit of the normal range at the foveal center (78.7 × 103 cones/mm2; mean [SD] reference range, 199 [87] × 103 cones/mm2), and cone spacing was increased eccentrically to 10° (sign test, P = .045). Individual cone central core reflectances appeared dim, suggesting loss of photoreceptor outer segments. The albipunctate spots were hypoautofluorescent. No photoreceptors or retinal pigment epithelium cells were identified at the locations of the albipunctate spots. Conclusions and RelevanceAlthough the predominant clinical symptom of night blindness and the electroretinography results suggest a primary rod dysfunction, examination with a FAOSLO demonstrates that cone density is also reduced. This finding may represent an early sign of progression to macular phenotype in FA. The hypoautofluorescence suggests that the albipunctate spots do not represent lipofuscin.

Journal

JAMA Ophthalmology – American Medical Association

Published: Sep 1, 2014

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