Cellular Imaging of Inherited Retinal Diseases Using Adaptive Optics

Overview

Journal Eye (Lond)

Specialty Ophthalmology

Date 2019 Jun 6

PMID 31164730

Citations 16

Authors

Jasdeep S Gill

Mariya Moosajee

Adam M Dubis

Affiliations

Soon will be listed here.

Abstract

Adaptive optics (AO) is an insightful tool that has been increasingly applied to existing imaging systems for viewing the retina at a cellular level. By correcting for individual optical aberrations, AO offers an improvement in transverse resolution from 10-15 μm to ~2 μm, enabling assessment of individual retinal cell types. One of the settings in which its utility has been recognised is that of the inherited retinal diseases (IRDs), the genetic and clinical heterogeneity of which warrants better cellular characterisation. In this review, we provide a summary of the basic principles of AO, its integration into multiple retinal imaging modalities and its clinical applications, focusing primarily on IRDs. Furthermore, we present a comprehensive summary of AO-based cellular findings in IRDs according to their associated disease-causing genes.

Citing Articles

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Adaptive optics retinal imaging in patients with usher syndrome.

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Szewczuk A, Zaleska-Zmijewska A, Dziedziak J, Szaflik J Med Sci Monit. 2023; 29:e941926.

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References

Choi S, Doble N, Hardy J, Jones S, Keltner J, Olivier S . In vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual function. Invest Ophthalmol Vis Sci. 2006; 47(5):2080-92. PMC: 2583223. DOI: 10.1167/iovs.05-0997. View

Kellner U, Kellner S, Weber B, Fiebig B, Weinitz S, Ruether K . Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa. Eye (Lond). 2008; 23(6):1349-59. DOI: 10.1038/eye.2008.280. View

Kay D, Land M, Cooper R, Dubis A, Godara P, Dubra A . Outer retinal structure in best vitelliform macular dystrophy. JAMA Ophthalmol. 2013; 131(9):1207-15. PMC: 3968428. DOI: 10.1001/jamaophthalmol.2013.387. View

Polans J, Keller B, Carrasco-Zevallos O, LaRocca F, Cole E, Whitson H . Wide-field retinal optical coherence tomography with wavefront sensorless adaptive optics for enhanced imaging of targeted regions. Biomed Opt Express. 2017; 8(1):16-37. PMC: 5231289. DOI: 10.1364/BOE.8.000016. View

Berger W, Kloeckener-Gruissem B, Neidhardt J . The molecular basis of human retinal and vitreoretinal diseases. Prog Retin Eye Res. 2010; 29(5):335-75. DOI: 10.1016/j.preteyeres.2010.03.004. View

Milam A, Li Z, Fariss R . Histopathology of the human retina in retinitis pigmentosa. Prog Retin Eye Res. 1998; 17(2):175-205. DOI: 10.1016/s1350-9462(97)00012-8. View

Scoles D, Sulai Y, Cooper R, Higgins B, Johnson R, Carroll J . PHOTORECEPTOR INNER SEGMENT MORPHOLOGY IN BEST VITELLIFORM MACULAR DYSTROPHY. Retina. 2016; 37(4):741-748. PMC: 5362286. DOI: 10.1097/IAE.0000000000001203. View

Viana K, Messias A, Siqueira R, Rodrigues M, Jorge R . Structure-functional correlation using adaptive optics, OCT, and microperimetry in a case of occult macular dystrophy. Arq Bras Oftalmol. 2017; 80(2):118-121. DOI: 10.5935/0004-2749.20170028. View

Song H, Rossi E, Latchney L, Bessette A, Stone E, Hunter J . Cone and rod loss in Stargardt disease revealed by adaptive optics scanning light ophthalmoscopy. JAMA Ophthalmol. 2015; 133(10):1198-203. PMC: 4600048. DOI: 10.1001/jamaophthalmol.2015.2443. View

10.

Ratnam K, Carroll J, Porco T, Duncan J, Roorda A . Relationship between foveal cone structure and clinical measures of visual function in patients with inherited retinal degenerations. Invest Ophthalmol Vis Sci. 2013; 54(8):5836-47. PMC: 3757906. DOI: 10.1167/iovs.13-12557. View

11.

Fleuriet J, Walton M, Ono S, Mustari M . Electrical Microstimulation of the Superior Colliculus in Strabismic Monkeys. Invest Ophthalmol Vis Sci. 2016; 57(7):3168-80. PMC: 4928695. DOI: 10.1167/iovs.16-19488. View

12.

Jonnal R, Rha J, Zhang Y, Cense B, Gao W, Miller D . In vivo functional imaging of human cone photoreceptors. Opt Express. 2009; 15(4):16141-16160. PMC: 2709869. DOI: 10.1364/OE.15.016141. View

13.

Langlo C, Erker L, Parker M, Patterson E, Higgins B, Summerfelt P . REPEATABILITY AND LONGITUDINAL ASSESSMENT OF FOVEAL CONE STRUCTURE IN CNGB3-ASSOCIATED ACHROMATOPSIA. Retina. 2017; 37(10):1956-1966. PMC: 5537050. DOI: 10.1097/IAE.0000000000001434. View

14.

Zhang Y, Rha J, Jonnal R, Miller D . Adaptive optics parallel spectral domain optical coherence tomography for imaging the living retina. Opt Express. 2009; 13(12):4792-811. DOI: 10.1364/opex.13.004792. View

15.

Godara P, Dubis A, Roorda A, Duncan J, Carroll J . Adaptive optics retinal imaging: emerging clinical applications. Optom Vis Sci. 2010; 87(12):930-41. PMC: 3017557. DOI: 10.1097/OPX.0b013e3181ff9a8b. View

16.

Nguyen-Legros J, Hicks D . Renewal of photoreceptor outer segments and their phagocytosis by the retinal pigment epithelium. Int Rev Cytol. 2000; 196:245-313. DOI: 10.1016/s0074-7696(00)96006-6. View

17.

Tojo N, Nakamura T, Ozaki H, Oka M, Oiwake T, Hayashi A . Analysis of macular cone photoreceptors in a case of occult macular dystrophy. Clin Ophthalmol. 2013; 7:859-64. PMC: 3659265. DOI: 10.2147/OPTH.S44446. View

18.

Li K, Tiruveedhula P, Roorda A . Intersubject variability of foveal cone photoreceptor density in relation to eye length. Invest Ophthalmol Vis Sci. 2010; 51(12):6858-67. PMC: 3055782. DOI: 10.1167/iovs.10-5499. View

19.

Kominami A, Ueno S, Kominami T, Nakanishi A, Ito Y, Fujinami K . Case of cone dystrophy with normal fundus appearance associated with biallelic POC1B variants. Ophthalmic Genet. 2017; 39(2):255-262. DOI: 10.1080/13816810.2017.1408846. View

20.

Zawadzki R, Jones S, Olivier S, Zhao M, Bower B, Izatt J . Adaptive-optics optical coherence tomography for high-resolution and high-speed 3D retinal in vivo imaging. Opt Express. 2008; 13(21):8532-8546. PMC: 2605068. DOI: 10.1364/opex.13.008532. View