Rod Sensitivity, Cone Sensitivity, and Photoreceptor Layer Thickness in Retinal Degenerative Diseases

Birch, David G.; Wen, Yuquan; Locke, Kelly I.; Hood, Donald C.

doi:10.1167/iovs.11-7509

Cited by 79 publications

(79 citation statements)

References 19 publications

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“…Overall, the SD-OCT changes observed in CDSR are nonspecific, and similar changes have been described in achromatopsia, cone dystrophy, cone-rod dystrophy, and ABCA4-related disease. [42][43][44][45] The rod b-wave to low flash strength (DA 0.002) was nonrecordable or markedly delayed; rod b-wave to DA2.29 ERG was high or supernormal as previously reported. 5 Disproportionately large increments in rod b-wave amplitude with small increments in flash strengths (across the range tested) were evident only in a subset; an insufficient number of intermediate strength flashes likely precluded observance of the same in the rest.…”

Section: Discussionsupporting

confidence: 74%

Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic inKCNV2-Related “Cone Dystrophy with Supernormal Rod Electroretinogram”

Vincent

Wright

Garcia-Sanchez

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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Section: Discussionsupporting

confidence: 74%

Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic inKCNV2-Related “Cone Dystrophy with Supernormal Rod Electroretinogram”

Vincent

Wright

Garcia-Sanchez

et al. 2013

Invest. Ophthalmol. Vis. Sci.

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“…S À was measured in NPHP5-LCA patients. The structure-function data from the different genotypes were plotted, and we applied a simple linear model which has been used to describe this relationship in various retinal degenerations (21)(22)(23)(24). The results indicated that central disease due to BBS1, USH2A and RPGR mutations behaved similarly and like pure photoreceptor degenerations.…”

Section: Resultsmentioning

confidence: 99%

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused byNPHP5mutation

et al. 2016

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Ciliary defects can result in severe disorders called ciliopathies. Mutations in NPHP5 cause a ciliopathy characterized by severe childhood onset retinal blindness, Leber congenital amaurosis (LCA), and renal disease. Using the canine NPHP5-LCA model we compared human and canine retinal phenotypes, and examined the early stages of photoreceptor development and degeneration, the kinetics of photoreceptor loss, the progression of degeneration and the expression profiles of selected genes. NPHP5-mutant dogs recapitulate the human phenotype of very early loss of rods, and relative retention of the central retinal cone photoreceptors that lack function. In mutant dogs, rod and cone photoreceptors have a sensory cilium, but develop and function abnormally and then rapidly degenerate; L/M cones are more severely affected than S-cones. The lack of outer segments in mutant cones indicates a ciliary dysfunction. Genes expressed in mutant rod or both rod and cone photoreceptors show significant downregulation, while those expressed only in cones are unchanged. Many genes in celldeath and -survival pathways also are downregulated. The canine disease is a non-syndromic LCA-ciliopathy, with normal renal structures and no CNS abnormalities. Our results identify the critical time points in the pathogenesis of the photoreceptor disease, and bring us closer to defining a potential time window for testing novel therapies for translation to patients. †

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“…11 This may be due to the increase in ellipsoid volume with increasing eccentricity 51 and the absence of rods at the fovea, which also contributes to the intensity of the EZ band. 11,58 To accommodate for the automatic brightness adjustments to SD-OCT images, the ELM and INL were chosen as references. These structures are considered to remain relatively unaltered in early disease.…”

Section: Discussionmentioning

confidence: 99%

Quantitative Analysis of the Ellipsoid Zone Intensity in Phenotypic Variations of Intermediate Age-Related Macular Degeneration

Gin

Chew

et al. 2017

Invest. Ophthalmol. Vis. Sci.

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Citation: Gin TJ, Wu Z, Chew SKH, Guymer RH, Luu CD. Quantitative analysis of the ellipsoid zone intensity in phenotypic variations of intermediate age-related macular degeneration. Invest Ophthalmol Vis Sci. 2017;58:207958: -208658: . DOI:10.1167 PURPOSE. Reduction of the ellipsoid zone (EZ) intensity has been reported in eyes with agerelated macular degeneration (AMD). This study determined whether overall EZ intensity, in retinal locations undisturbed by pathologic features, is associated with the presence of clinical features, which are known important phenotypic risk factors for disease progression, large drusen, reticular pseudodrusen (RPD), and pigmentary abnormalities. METHODS.A horizontal B-scan through the foveola on spectral-domain optical coherence tomography (SD-OCT) was performed in both eyes of 75 participants with bilateral intermediate AMD and 10 age-similar control participants. Eyes with AMD were classified as per the presence of large drusen, RPD, and hyperpigmentary changes. The relative EZ intensity profile, up to an eccentricity of 3400 lm, was averaged over seven 1000-lm retinal segments. The association between relative EZ intensity profile over seven retinal segments and AMD pathologic features was analyzed.RESULTS. The average relative EZ intensities were significantly reduced in eyes with intermediate AMD compared to normal eyes (P 0.025) and with increasing age (P 0.020). On multivariate analyses, only the presence of hyperpigmentary changes and increasing age were significantly associated with reduced overall relative intensities (P 0.024), but not the presence of large drusen or RPD (P ‡ 0.115).CONCLUSIONS. The presence of hyperpigmentary change in the macula in association with large drusen, not large drusen alone, nor large drusen with RPD, was significantly associated with a generalised reduction in EZ intensity. Quantitative assessment of the relative EZ intensity may serve as an effective biomarker of disease severity and progression.

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Rod Sensitivity, Cone Sensitivity, and Photoreceptor Layer Thickness in Retinal Degenerative Diseases

Abstract: Both rods and cones can support an intact IS/OS junction and normal photoreceptor thickness measures. The product of ONL and OS thicknesses is proportional to the sensitivity mediated by the less abnormal type of photoreceptor.

Cited by 79 publications

References 19 publications

Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic inKCNV2-Related “Cone Dystrophy with Supernormal Rod Electroretinogram”

Phenotypic Characteristics Including In Vivo Cone Photoreceptor Mosaic inKCNV2-Related “Cone Dystrophy with Supernormal Rod Electroretinogram”

Overlap of abnormal photoreceptor development and progressive degeneration in Leber congenital amaurosis caused byNPHP5mutation

Quantitative Analysis of the Ellipsoid Zone Intensity in Phenotypic Variations of Intermediate Age-Related Macular Degeneration

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