Abstract
Retinal imaging has advanced to enable noninvasive in vivo visualization of macular photoreceptors with cellular resolution. Images of retinal structure are best interpreted in the context of visual function, but clinical measures of visual function lack resolution on the scale of individual cells. Combined with cross-sectional measures of retinal structure acquired with optical coherence tomography (OCT), macular photoreceptor function can be evaluated using visual acuity and fundus-guided microperimetry, but the resolution of these measures is limited to relatively large retinal areas. By incorporating adaptive optics correction of aberrations in light entering and exiting the pupil, individual photoreceptors can be visualized and stimulated to assess structure and function. Discrepancy between structural images and visual function can shed light on the origin of visible features and their relation to visual function. Dysflective cones, cones with abnormal waveguiding properties on confocal adaptive optics scanning laser ophthalmoscopy (AOSLO) images and measurable function, provide insight into the visual significance of features in retinal images and may facilitate identification of patients who could benefit from therapies.
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References
Battu R, Khanna A, Hegde B et al (2015) Correlation of structure and function of the macula in patients with retinitis pigmentosa. Eye (Lond) 29:895–901
Birch DG, Wen Y, Locke K et al (2011) Rod sensitivity, cone sensitivity, and photoreceptor layer thickness in retinal degenerative diseases. Invest Ophthalmol Vis Sci 52:7141–7147
Birch DG, Bennett LD, Duncan JL et al (2016) Long-term follow-up of patients with retinitis pigmentosa (RP) receiving intraocular ciliary neurotrophic factor implants. Am J Ophthalmol 170:10–14
Birch DG, Locke KG, Wen Y et al (2013) Spectral-domain optical coherence tomography measures of outer segment layer progression in patients with X-linked retinitis pigmentosa. JAMA Ophthalmol 131:1143–1150
Bittner AK, Iftikhar MH, Dagnelie G (2011a) Test-retest, within-visit variability of Goldmann visual fields in retinitis pigmentosa. Invest Ophthalmol Vis Sci 52:8042–8046
Bittner AK, Ibrahim MA, Haythornthwaite JA et al (2011b) Vision test variability in retinitis pigmentosa and psychosocial factors. Optom Vis Sci 88:1496–1506
Busskamp V, Picaud S, Sahel JA et al (2012) Optogenetic therapy for retinitis pigmentosa. Gene Ther 19:169–175
Choi SS, Doble N, Hardy JL et al (2006) In vivo imaging of the photoreceptor mosaic in retinal dystrophies and correlations with visual function. Invest Ophthalmol Vis Sci 47:2080–2092
Cideciyan AV, Swider M, Aleman TS et al (2012) Macular function in macular degenerations: repeatability of microperimetry as a potential outcome measure for ABCA4-associated retinopathy trials. Invest Ophthalmol Vis Sci 53:841–852
Csaky K, Ferris F 3rd, Chew EY et al (2017) Report from the NEI/FDA endpoints workshop on age-related macular degeneration and inherited retinal diseases. Invest Ophthalmol Vis Sci 58:3456–3463
Duncan JL, Zhang Y, Gandhi J et al (2007) High-resolution imaging with adaptive optics in patients with inherited retinal degeneration. Invest Ophthalmol Vis Sci 48:3283–3291
Duncan JL, Ratnam K, Birch DG et al (2011) Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene. Invest Ophthalmol Vis Sci 52:9614–9623
Foote KG, Loumou P, Griffin S et al (2018) Relationship between foveal cone structure and visual acuity measured with adaptive optics scanning laser ophthalmoscopy in retinal degeneration. Invest Ophthalmol Vis Sci 59:3385–3393
Foote KG, de la Huerta I, Gustafson J et al (2017) Correlation of cone spacing with retinal thickness and microperimetry in patients with inherited retinal degenerations. Invest Ophthalmol Vis Sci 58:ARVO E-Abstract #310
Hood DC, Lazow MA, Locke KG et al (2011a) The transition zone between healthy and diseased retina in patients with retinitis pigmentosa. Invest Ophthalmol Vis Sci 52:101–108
Hood DC, Ramachandran R, Holopigian K et al (2011b) Method for deriving visual field boundaries from OCT scans of patients with retinitis pigmentosa. Biomed Opt Express 2:1106–1114
Langlo CS, Patterson EJ, Higgins BP et al (2016) Residual foveal cone structure in CNGB3-associated achromatopsia. Invest Ophthalmol Vis Sci 57:3984–3995
Li KY, Tiruveedhula P, Roorda A (2010) Intersubject variability of foveal cone photoreceptor density in relation to eye length. Invest Ophthalmol Vis Sci 51:6858–6867
Midena E, Vujosevic S, Convento E et al (2007) Microperimetry and fundus autofluorescence in patients with early age-related macular degeneration. Br J Ophthalmol 91:1499–1503
Miloudi C, Rossant F, Bloch I et al (2015) The negative cone mosaic: a new manifestation of the optical stiles-crawford effect in normal eyes. Invest Ophthalmol Vis Sci 56:7043–7050
Morgan JI (2016) The fundus photo has met its match: optical coherence tomography and adaptive optics ophthalmoscopy are here to stay. Ophthalmic Physiol Opt 36:218–239
Morgan JI, Han G, Klinman E et al (2014) High-resolution adaptive optics retinal imaging of cellular structure in choroideremia. Invest Ophthalmol Vis Sci 55:6381–6397
Pilotto E, Guidolin F, Convento E et al (2013) Fundus autofluorescence and microperimetry in progressing geographic atrophy secondary to age-related macular degeneration. Br J Ophthalmol 97:622–626
Ratnam K, Carroll J, Porco TC et al (2013) Relationship between foveal cone structure and clinical measures of visual function in patients with inherited retinal degenerations. Invest Ophthalmol Vis Sci 54:5836–5847
Roorda A, Duncan JL (2015) Adaptive optics ophthalmoscopy. Ann Rev Vis Sci 1:19–50
Roorda A, Romero-Borja F, Donnelly W III et al (2002) Adaptive optics scanning laser ophthalmoscopy. Opt Express 10:405–412
Schmitz-Valckenberg S, Bultmann S, Dreyhaupt J et al (2004) Fundus autofluorescence and fundus perimetry in the junctional zone of geographic atrophy in patients with age-related macular degeneration. Invest Ophthalmol Vis Sci 45:4470–4476
Scholl HP, Bellmann C, Dandekar SS et al (2004) Photopic and scotopic fine matrix mapping of retinal areas of increased fundus autofluorescence in patients with age-related maculopathy. Invest Ophthalmol Vis Sci 45:574–583
Schonbach EM, Wolfson Y, Strauss RW et al (2017) Macular sensitivity measured with microperimetry in Stargardt disease in the progression of atrophy secondary to Stargardt disease (ProgStar) study: report no. 7. JAMA Ophthalmol 135:696–703
Scoles D, Sulai YN, Langlo CS et al (2014) In vivo imaging of human cone photoreceptor inner segments. Invest Ophthalmol Vis Sci 55:4244–4251
Scoles D, Flatter JA, Cooper RF et al (2016) Assessing photoreceptor structure associated with ellipsoid zone disruptions visualized with optical coherence tomography. Retina 36:91–103
Testa F, Rossi S, Sodi A et al (2012) Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy. Invest Ophthalmol Vis Sci 53:4409–4415
Tu JH, Foote KG, Lujan BJ et al (2017) Dysflective cones: visual function and cone reflectivity in long-term follow-up of acute bilateral foveolitis. Am J Ophthalmol Case Rep 7:14–19
Tuten WS, Tiruveedhula P, Roorda A (2012) Adaptive optics scanning laser ophthalmoscope-based microperimetry. Optometry Vis Sci 89:563–574
Wang Q, Tuten WS, Lujan BJ et al (2015) Adaptive optics microperimetry and OCT images show preserved function and recovery of cone visibility in macular telangiectasia type 2 retinal lesions. Invest Ophthalmol Vis Sci 56:778–786
Wilk MA, Dubis AM, Cooper RF et al (2017) Assessing the spatial relationship between fixation and foveal specializations. Vis Res 132:53–61
Wolfing JI, Chung M, Carroll J et al (2006) High-resolution retinal imaging of cone-rod dystrophy. Ophthalmology 113:1014–1019
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Duncan, J.L., Roorda, A. (2019). Dysflective Cones. In: Bowes Rickman, C., Grimm, C., Anderson, R., Ash, J., LaVail, M., Hollyfield, J. (eds) Retinal Degenerative Diseases. Advances in Experimental Medicine and Biology, vol 1185. Springer, Cham. https://doi.org/10.1007/978-3-030-27378-1_22
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DOI: https://doi.org/10.1007/978-3-030-27378-1_22
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