Dataset Information

Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.

ABSTRACT: Inherited retinal diseases can result from various genetic defects and are one of the leading causes for blindness in the working-age population. The present study aims to provide a comprehensive description of changes in retinal structure associated with phenotypic disease entities and underlying genetic mutations. Full macular spectral domain optical coherence tomography scans were obtained and manually segmented in 16 patients with retinitis pigmentosa, 7 patients with cone−rod dystrophy, and 7 patients with Stargardt disease, as well as 23 age- and sex-matched controls without retinal disease, to assess retinal layer thicknesses. As indicated by generalized least squares models, all IRDs were associated with retinal thinning (p < 0.001), especially of the outer nuclear layer (ONL, p < 0.001). Except for the retinal nerve fiber layer, such thinning was associated with a reduced visual acuity (p < 0.001). These advances in our understanding of ultrastructural retinal changes are important for the development of gene-, cell-, and optogenetic therapy. Longitudinal studies are warranted to describe the temporal component of those changes.

SUBMITTER: Gersch J

PROVIDER: S-EPMC9788460 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature

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Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.

Gersch Julia J Hufendiek Katerina K Delarocque Julien J Framme Carsten C Jacobsen Christina C Stöhr Heidi H Kellner Ulrich U Hufendiek Karsten K

International journal of molecular sciences 20221216 24

Inherited retinal diseases can result from various genetic defects and are one of the leading causes for blindness in the working-age population. The present study aims to provide a comprehensive description of changes in retinal structure associated with phenotypic disease entities and underlying genetic mutations. Full macular spectral domain optical coherence tomography scans were obtained and manually segmented in 16 patients with retinitis pigmentosa, 7 patients with cone−rod dystrophy, and ...[more]

PMID: 36555650

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Project description:Neurodegenerative and neuroinflammatory diseases regularly cause optic nerve and retinal damage. Evaluating retinal changes using optical coherence tomography (OCT) in diseases like multiple sclerosis has thus become increasingly relevant. However, intraretinal segmentation, a necessary step for interpreting retinal changes in the context of these diseases, is not standardized and often requires manual correction. Here we present a semi-automatic intraretinal layer segmentation pipeline and establish normative values for retinal layer thicknesses at the macula, including dependencies on age, sex, and refractive error. Spectral domain OCT macular 3D volume scans were obtained from healthy participants using a Heidelberg Engineering Spectralis OCT. A semi-automated segmentation tool (SAMIRIX) based on an interchangeable third-party segmentation algorithm was developed and employed for segmentation, correction, and thickness computation of intraretinal layers. Normative data is reported from a 6 mm Early Treatment Diabetic Retinopathy Study (ETDRS) circle around the fovea. An interactive toolbox for the normative database allows surveying for additional normative data. We cross-sectionally evaluated data from 218 healthy volunteers (144 females/74 males, age 36.5 ± 12.3 years, range 18-69 years). Average macular thickness (MT) was 313.70 ± 12.02 μm, macular retinal nerve fiber layer thickness (mRNFL) 39.53 ± 3.57 μm, ganglion cell and inner plexiform layer thickness (GCIPL) 70.81 ± 4.87 μm, and inner nuclear layer thickness (INL) 35.93 ± 2.34 μm. All retinal layer thicknesses decreased with age. MT and GCIPL were associated with sex, with males showing higher thicknesses. Layer thicknesses were also positively associated with each other. Repeated-measurement reliability for the manual correction of automatic intraretinal segmentation results was excellent, with an intra-class correlation coefficient >0.99 for all layers. The SAMIRIX toolbox can simplify intraretinal segmentation in research applications, and the normative data application may serve as an expandable reference for studies, in which normative data cannot be otherwise obtained.

Project description:The aims of this study were 1) To evaluate retinal nerve fiber layer (fRNFL) thickness and ganglion cell layer plus inner plexiform layer (GCIPL) thickness at the fovea in eyes affected with traumatic optic neuropathy (TON) compared with contralateral normal eyes, 2) to further evaluate these thicknesses within 3 weeks following trauma (defined as "early TON"), and 3) to investigate the relationship between these retinal layer thicknesses and visual function in TON eyes. Twenty-nine patients with unilateral TON were included. Horizontal and vertical spectral-domain optical coherence tomography (SD-OCT) scans of the fovea were taken in patients with unilateral TON. The main outcome measure was thickness of the entire retina, fRNFL, and GCIPL in eight areas. Thickness of each retinal layer was compared between affected and unaffected eyes. The correlation between the thickness of each retinal layer and visual function parameters, including best corrected visual acuity, color vision, P100 latency, and P100 amplitude in visual evoked potential (VEP), mean deviation (MD) and visual field index (VFI) in Humphrey visual field analysis in TON eyes was analyzed. Thicknesses of the entire retina, fRNFL, and GCIPL in SD-OCT were significantly thinner (3-36%) in all measurement areas of TON eyes compared to those in healthy eyes (all p<0.05). Whereas, only GCIPL in the outer nasal, superior, and inferior areas was significantly thinner (5-10%) in the early TON eyes than that in the control eyes (all p<0.01). A significant correlation was detected between retinal layer thicknesses and visual function parameters including color vision, P100 latency and P100 amplitude in VEP, MD, and VFI (particularly P100 latency, MD, and VFI) (r = -0.70 to 0.84). Among the retinal layers analyzed in this study, GCIPL (particularly in the superior and inferior areas) was most correlated with these five visual function parameters (r = -0.70 to 0.71). Therefore, evaluation of morphological change of each retinal layer using SD-OCT can help in understanding TON pathophysiology and indirectly assessing visual function. Moreover, evaluation of the morphological change of the GCIPL in TON eyes may be useful to assess visual function in patients with early TON.

Dataset Information

Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.

Publications

Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations.

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