Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism

Wilk, Melissa A.; McAllister, John T.; Cooper, Robert F.; Dubis, Adam M.; Patitucci, Teresa N.; Summerfelt, Phyllis; Anderson, Jennifer L.; Stepien, Kimberly E.; Costakos, Deborah M.; Connor, Thomas B.; Wirostko, William J.; Chiang, Pei Wen; Dubra, Alfredo; Curcio, Christine A.; Brilliant, Murray H.; Summers, C. Gail; Carroll, Joseph

doi:10.1167/iovs.13-13217

Cited by 123 publications

(182 citation statements)

References 59 publications

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“…This is not significantly different ( P > 0.05) from normative values published by Wilk et al, who reported cone density at 43.5 μm (approximately 0.15°) eccentricity to be 115,087 cones/mm 2 (95% CI, ±20,311 cones/mm 2 ). 53 In the subjects with Usher syndrome, mean foveal cone density was 69,305 cones/mm 2 (95% CI, ±5656 cones/mm 2 ; Fig. 6), which was significantly reduced compared with both the normal ( P < 0.01) and RP groups ( P = 0.05).…”

Section: Resultsmentioning

confidence: 86%

“…Horizontal dashed line represents nominally normal foveal sensitivity, 35 dB and above. Vertical dashed lines represent the lowest normal foveal cone density previously reported in the literature 53 : 84,733 cones/mm 2 .…”

Section: Resultsmentioning

confidence: 93%

“…Individual cone density values measured from confocal AOSLO images are provided in Tables 1 and 2. Cone counts were pooled by diagnosis (RP versus Usher syndrome) to generate mean cone densities, SDs, and 95% confidence intervals (CIs), which were then compared with mean cone densities in healthy subjects published by Wilk et al 53 …”

Section: Resultsmentioning

confidence: 99%

“…Two orthogonal imaging axes are used to facilitate alignment with clinical images and to adjust for rotational offsets between AOSLO and other modalities. The temporal and superior axes were chosen because of availability of normative cone density data in these regions, 53 and because (1) in our experience, the thinner retinal nerve fiber layer in the temporal direction provides for better imaging quality, whereas (2) imaging along the superior axis approaches the location of maximal rod density at approximately 12° superior eccentricity. 54 …”

Section: Methodsmentioning

confidence: 99%

“…Cone density measurements were compared with previously published normative values from nine healthy subjects. 53 To assess significance, 1-way analysis of variance (ANOVA) tests were performed for both foveal and parafoveal cone densities to generate an overall P value. Post hoc Tukey-Kramer multiple comparisons tests were then performed to determine the following inter-cohort P values: normal versus RP, normal versus Usher, and RP versus Usher.…”

Section: Methodsmentioning

confidence: 99%

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Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome

Sun

Johnson

Langlo

et al. 2016

Invest. Ophthalmol. Vis. Sci.

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PurposeThe purpose of this study was to examine cone photoreceptor structure in retinitis pigmentosa (RP) and Usher syndrome using confocal and nonconfocal split-detector adaptive optics scanning light ophthalmoscopy (AOSLO).MethodsNineteen subjects (11 RP, 8 Usher syndrome) underwent ophthalmic and genetic testing, spectral-domain optical coherence tomography (SD-OCT), and AOSLO imaging. Split-detector images obtained in 11 subjects (7 RP, 4 Usher syndrome) were used to assess remnant cone structure in areas of altered cone reflectivity on confocal AOSLO.ResultsDespite normal interdigitation zone and ellipsoid zone appearance on OCT, foveal and parafoveal cone densities derived from confocal AOSLO images were significantly lower in Usher syndrome compared with RP. This was due in large part to an increased prevalence of non-waveguiding cones in the Usher syndrome retina. Although significantly correlated to best-corrected visual acuity and foveal sensitivity, cone density can decrease by nearly 38% before visual acuity becomes abnormal. Aberrantly waveguiding cones were noted within the transition zone of all eyes and corresponded to intact inner segment structures. These remnant cones decreased in density and increased in diameter across the transition zone and disappeared with external limiting membrane collapse.ConclusionsFoveal cone density can be decreased in RP and Usher syndrome before visible changes on OCT or a decline in visual function. Thus, AOSLO imaging may allow more sensitive monitoring of disease than current methods. However, confocal AOSLO is limited by dependence on cone waveguiding, whereas split-detector AOSLO offers unambiguous and quantifiable visualization of remnant cone inner segment structure. Confocal and split-detector thus offer complementary insights into retinal pathology.

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Section: Resultsmentioning

confidence: 86%

Section: Resultsmentioning

confidence: 93%

Section: Resultsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

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Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome

Sun

Johnson

Langlo

et al. 2016

Invest. Ophthalmol. Vis. Sci.

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show abstract

Albinism

Summers¹,

Adams²

2020

Cassidy and Allanson's Management of Genetic Syndromes

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Dynamic changes in ocular shape during human development and its implications for retina fovea formation

Rasys,

Wegerski,

Trainor

et al. 2023

BioEssays

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The human fovea is known for its distinctive pit‐like appearance, which results from the displacement of retinal layers superficial to the photoreceptors cells. The photoreceptors are found at high density within the foveal region but not the surrounding retina. Efforts to elucidate the mechanisms responsible for these unique features have ruled out cell death as an explanation for pit formation and changes in cell proliferation as the cause of increased photoreceptor density. These findings have led to speculation that mechanical forces acting within and on the retina during development underly the formation of foveal architecture. Here we review eye morphogenesis and retinal remodeling in human embryonic development. Our meta‐analysis of the literature suggests that fovea formation is a protracted process involving dynamic changes in ocular shape that start early and continue throughout most of human embryonic development. From these observations, we propose a new model for fovea development.

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Relationship Between Foveal Cone Specialization and Pit Morphology in Albinism

Cited by 123 publications

References 59 publications

Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome

Assessing Photoreceptor Structure in Retinitis Pigmentosa and Usher Syndrome

Albinism

Dynamic changes in ocular shape during human development and its implications for retina fovea formation

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