Dataset Information

Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.

ABSTRACT: Purpose:To determine the relationship between the macular curvature and the causative genes of retinitis pigmentosa (RP). Methods:We examined the medical records of the right eyes of 65 cases with RP (31 men and 34 women; average age, 47.6 years). There were 31 cases with the EYS variants, 11 cases with the USH2A variants, six cases with the RPGR variants, 13 cases with the RP1 variants, and four cases with the RP1L1 variants. The mean curvature of Bruch's membrane was calculated within 6 mm of the fovea as the mean macular curvature index (MMCI, 1/µm). We used multiple linear regression analysis to determine the independence of the causative genes contributing to the MMCIs after adjustments for age, sex, axial length, and width of the ellipsoid zone. Results:The median MMCI was -31.2 × 10-5/µm for the RPGR eyes, -16.5 × 10-5/µm for the RP1L1 eyes, -13.0 × 10-5/µm for the RP1 eyes, -9.8 × 10-5/µm for the EYS eyes, and -9.0 × 10-5/µm for the USH2A eyes. Compared with the EYS gene as the reference gene, the RPGR gene was significantly related to the MMCI values after adjusting for the other parameters (P = 5.30 × 10-6). In contrast, the effects of the other genes, USH2A, RP1, and RP1L1, were not significantly different from that of the EYS gene (P = 0.26, P = 0.49, and P = 0.92, respectively). Conclusions:The RPGR gene had a stronger effect on the steep macular curvature than the other ciliopathy-related genes.

SUBMITTER: Koyanagi Y

PROVIDER: S-EPMC7441377 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature

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Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.

Koyanagi Yoshito Y Ueno Shinji S Ito Yasuki Y Kominami Taro T Komori Shiori S Akiyama Masato M Murakami Yusuke Y Ikeda Yasuhiro Y Sonoda Koh-Hei KH Terasaki Hiroko H

Investigative ophthalmology & visual science 20200801 10

<h4>Purpose</h4>To determine the relationship between the macular curvature and the causative genes of retinitis pigmentosa (RP).<h4>Methods</h4>We examined the medical records of the right eyes of 65 cases with RP (31 men and 34 women; average age, 47.6 years). There were 31 cases with the EYS variants, 11 cases with the USH2A variants, six cases with the RPGR variants, 13 cases with the RP1 variants, and four cases with the RP1L1 variants. The mean curvature of Bruch's membrane was calculated ...[more]

PMID: 32749464

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Project description:PURPOSE:Primary objective-to investigate the effect of retinal vessel oxygen saturation (SO2) on macular oedema (ME) in retinitis pigmentosa (RP) patients. Secondary objective-to link the presence of ME to metabolic (oxygen saturation of retinal vessels, SO2), functional (multifocal electroretinography, mfERG) and structural (Spectral Domain Optical Coherent Tomography, SD-OCT) alterations in RP. DESIGN:Prospective, cross-sectional, non-interventional study. SUBJECTS:Patients with typical RP (N = 37) and controls (N = 19), who underwent retinal vessel Oximetry (RO), SD-OCT and mfERG, were included. METHODS:A computer-based program of the retinal vessel analyser unit (IMEDOS Systems UG, Jena, Germany) was used to measure SO2. We evaluated the mean SO2, in all major retinal arterioles (oxygen saturation in retinal arterioles, A-SO2, %) and venules (oxygen saturation in retinal venules, V-SO2, %). MfERG responses were averaged in zones (zone 1 (0-3°), zone 2 (3-8°) and zone 3 (8-15°)) and compared to corresponding areas of the OCT. The effect of ME on SO2 was evaluated dividing the RP in two subgroups: with clinical appearance of ME (ME-RP) and without it (no-ME-RP). MAIN OUTCOME MEASURES:Parallel recording and juxtaposition of metabolic (SO2) to structural (OCT) and functional-(mfERG) measures. Mean ( ± SD) A-SO2 and V-SO2 were higher in no-ME-RP (96.77% (±6.31) and 59.93% (±7.76)) and even higher in the ME-RP (99.82% (±6.21) and 65.63% (±7.63)), compared to controls (93.15% (±3.76) and 53.77% (±3.70), p ≤ 0.006). RESULTS:The subgroup ME-RP differed significantly from the subgroup no-ME-RP by increased A-SO2 and V-SO2, p ≤ 0.026. The presence of ME confirmed a different relationship between the altered SO2 and the vessel diameters, against the functional and structural parameters. CONCLUSION:Based on our results, the presence of macular oedema indicates a tendency toward greater alteration of the metabolic function in RP patients.

Dataset Information

Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.

Publications

Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.

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