Retinal Pigment Epithelium Cell Density and Bruch’s Membrane Thickness in Secondary versus Primary High Myopia and Emmetropia

Jonas, Jost B.; Dong, Li; Holbach, Leonard M.; Panda‐Jonas, Songhomitra

doi:10.1038/s41598-020-62096-7

Cited by 15 publications

(6 citation statements)

References 12 publications

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“…PM is characterised by increased AL, accompanied by pathological or degenerative changes in the neurosensory retina, RPE, choroid and sclera, resulting in the progression of myopic maculopathy and subsequent visual impairment. Previous studies showed that decreased density of the RPE might be associated with the pathogenesis of PM 29. In this study, PSMD3 was found highly expressed in the HRPE layer.…”

Section: Discussionsupporting

confidence: 62%

PSMD3gene mutations cause pathological myopia

et al. 2023

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PurposeGenetic factors play a prominent role in the pathogenesis of pathological myopia (PM). However, the exact genetic mechanism of PM remains unclear. This study aimed to determine the candidate mutation of PM in a Chinese family and explore the potential mechanism.MethodsWe performed exome sequencing and Sanger sequencing in a Chinese family and 179 sporadic PM cases. The gene expression in human tissue was investigated by RT-quantitative real-time PCR (RT-qPCR) and immunofluorescence. Cell apoptotic rates were tested by annexin V-APC/7AAD and flow cytometry.Psmd3knock-in mice with point mutation were generated for measuring myopia-related parameters.ResultsWe screened a novelPSMD3variant (c.689T>C; p.F230S) in a Chinese family with PM, and another rare mutation (c.1015C>A; p.L339M) was identified in 179 unrelated cases with PM. RT-qPCR and immunofluorescence confirmed the expression of PSMD3 in human eye tissue. Mutation ofPSMD3decreased the mRNA and protein expression, causing apoptosis of human retinal pigment epithelial cells. In in vivo experiments, the axial length (AL) of mutant mice increased significantly compared with that of wild-type mice (p<0.001).ConclusionsA new potential pathogenic gene,PSMD3, in a PM family was identified, and it may be involved in the elongation of AL and the development of PM.

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Section: Discussionsupporting

confidence: 62%

PSMD3gene mutations cause pathological myopia

et al. 2023

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“…It holds true in particular for regional differences in the decrease of the photoreceptor density with longer axial length. The thickness of the whole retina was examined in a previous small-scaled histological study in which the retinal inner nuclear layer and outer nuclear layer, assessed at the equator and in the midperiphery, decreased in thickness with longer axial length 7 , 20 . The RPE cell density in relationship to axial length has recently been addressed in another study which as the present investigation found that the RPE cell density decreased with longer axial length in the midperiphery and at the equator, while in that study, the RPE cell density measured in the ora serrata region was not significantly correlated with axial length 8 .…”

Section: Discussionmentioning

confidence: 99%

Photoreceptor density in relation to axial length and retinal location in human eyes

Panda‐Jonas

Jonas

2022

Sci Rep

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The purpose of the study was to examine the density of retinal photoreceptors and retinal pigment epithelium (RPE) cells in relation to myopic axial elongation in human eyes. Using light microscopy, we assessed the density of photoreceptors and RPE cells at the ora serrata, equator, and midperiphery (equator/posterior pole midpoint), and the RPE cell density additionally at the posterior pole, in enucleated human globes. The study included 78 eyes (mean age: 59.2 ± 15.6 years; range: 32–85 years) with a mean axial length of 27.3 ± 3.6 mm (range: 21.5–37.0 mm). Close to the ora serrata, at the equator and midperiphery, photoreceptor and RPE cell density was 246 ± 183, 605 ± 299 and 1089 ± 441 photoreceptors/mm and 56.1 ± 13.7, 45.2 ± 15.1, and 48.8 ± 15.6 RPE cells/mm, respectively. Densities of both cell types in all three regions were positively correlated with each other (all P < 0.001) and decreased with longer axial length (all P < 0.001) and longer distance between the ora serrata and the posterior pole (all P < 0.001), most marked at the midperiphery and least marked close to the ora serrata. The PRE cell density at the posterior pole was not significantly (P = 0.35) related to axial length. The photoreceptor density at the ora serrata (beta:− 0.33) and equator (beta: − 0.27) and RPE cell density at the ora serrata (beta: − 0.27) decreased additionally with the presence of glaucoma. The findings suggest that the axial elongation-related decrease in photoreceptor and RPE cell density is most marked at the midperiphery, followed by the equator and finally the ora serrata region. It suggests that the axial elongation-related enlargement of the eye wall predominantly takes place in the retro-equatorial region, followed by the equatorial region.

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“…Interestingly, in the fundus periphery in the retro-equatorial and equatorial region, the density of the RPE and the thickness of the retina decreased with longer axial length [16,17]. Again, in contrast to globes with primary myopia, eyes with secondary high myopia due congenital glaucoma showed a decreasing density of the macular RPE cells with longer axial length [14,18].…”

Section: Bruch's Membranementioning

confidence: 96%

Advances in myopia research anatomical findings in highly myopic eyes

et al. 2020

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Background: The goal of this review is to summarize structural and anatomical changes associated with high myopia. Main text: Axial elongation in myopic eyes is associated with retinal thinning and a reduced density of retinal pigment epithelium (RPE) cells in the equatorial region. Thickness of the retina and choriocapillaris and RPE cell density in the macula are independent of axial length. Choroidal and scleral thickness decrease with longer axial length in the posterior hemisphere of the eye, most marked at the posterior pole. In any eye region, thickness of Bruch's membrane (BM) is independent of axial length. BM opening, as the inner layer of the optic nerve head layers, is shifted in temporal direction in moderately elongated eyes (axial length <26.5 mm). It leads to an overhanging of BM into the intrapapillary compartment at the nasal optic disc side, and to an absence of BM at the temporal disc border. The lack of BM at the temporal disc side is the histological equivalent of parapapillary gamma zone. Gamma zone is defined as the parapapillary region without BM. In highly myopic eyes (axial length >26.5 mm), BM opening enlarges with longer axial length. It leads to a circular gamma zone. In a parallel manner, the peripapillary scleral flange and the lamina cribrosa get longer and thinner with longer axial length in highly myopic eyes. The elongated peripapillary scleral flange forms the equivalent of parapapillary delta zone, and the elongated lamina cribrosa is the equivalent of the myopic secondary macrodisc. The prevalence of BM defects in the macular region increases with longer axial length in highly myopic eyes. Scleral staphylomas are characterized by marked scleral thinning and spatially correlated BM defects, while thickness and density of the choriocapillaris, RPE and BM do not differ markedly between staphylomatous versus non-staphylomatous eyes in the respective regions. Conclusions: High axial myopia is associated with a thinning of the sclera and choroid posteriorly and thinning of the retina and RPE density in the equatorial region, while BM thickness is independent of axial length. The histological changes may point towards BM having a role in the process of axial elongation.

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Retinal Pigment Epithelium Cell Density and Bruch’s Membrane Thickness in Secondary versus Primary High Myopia and Emmetropia

Cited by 15 publications

References 12 publications

PSMD3gene mutations cause pathological myopia

PSMD3gene mutations cause pathological myopia

Photoreceptor density in relation to axial length and retinal location in human eyes

Advances in myopia research anatomical findings in highly myopic eyes

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