Sex-related differences in the progressive retinal degeneration of the rd10 mouse

Li, Baoqin; Gografe, Sylvia; Munchow, Alcira H.; López‐Toledano, Miguel A.; Pan, Zhuo‐Hua; Shen, Wen‐Hui

doi:10.1016/j.exer.2019.107773

Cited by 20 publications

(18 citation statements)

References 26 publications

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“…Interestingly, gender disbalance was recently also reported in ABCA4-retinopathy, an autosomal recessive disease—where there were significantly more females with mild alleles in the patient cohort [ 44 ]. Another study, performed on rd10 mice (a model of autosomal recessive RP), reported an earlier onset of and faster rate of rod degeneration in female mice [ 45 ].…”

Section: Discussionmentioning

confidence: 99%

“…Modifying genetic and external factors may affect disease expression and the identification of these could have a potential value in developing novel treatments. One of the factors could be gender and thus the existence x-linked genetic modifiers or hormonal influence is possible [ 45 ]. Interestingly, CME was seen only in patients from one family, suggesting that the susceptibility to this frequent complication of RP could have a genetic background.…”

Section: Discussionmentioning

confidence: 99%

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Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene

Kobal

Krašovec

Šuštar

et al. 2021

IJMS

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Mutations in rhodopsin gene (RHO) are a frequent cause of retinitis pigmentosa (RP) and less often, congenital stationary night blindness (CSNB). Mutation p.G90D has previously been associated with CSNB based on the examination of one family. This study screened 60 patients. Out of these 60 patients, 32 were affected and a full characterization was conducted in 15 patients. We described the clinical characteristics of these 15 patients (12 male, median age 42 years, range 8–71) from three families including visual field (Campus Goldmann), fundus autofluorescence (FAF), optical coherence tomography (OCT) and electrophysiology. Phenotypes were classified into four categories: CSNB (N = 3, 20%) sector RP (N = 3, 20%), pericentral RP (N = 1, 6.7%) and classic RP (N = 8, 53.3% (8/15)). The phenotypes were not associated with family, sex or age (Kruskal–Wallis, p > 0.05), however, cystoid macular edema (CME) was observed only in one family. Among the subjects reporting nyctalopia, 69% (22/32) were male. The clinical characteristics of the largest p.G90D cohort so far showed a large frequency of progressive retinal degeneration with 53.3% developing RP, contrary to the previous report.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene

Kobal

Krašovec

Šuštar

et al. 2021

IJMS

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“…In cyclic-light reared Pde6brd10 mice, the same genetic mutation is reported to be processed in a sex-specific manner. 69 More work is needed to identify why the N5MB drug combination appears sex-specific. In addition, the present results are reminiscent of a prior study that found the need for a multi-pronged approach to protect cone photoreceptors in cyclic light-reared Pde6brd10 mice.…”

Section: Discussionmentioning

confidence: 99%

Rod Photoreceptor Neuroprotection in Dark-RearedPde6brd10Mice

Berkowitz

Podolsky

Childers

et al. 2020

Invest. Ophthalmol. Vis. Sci.

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The purpose of this study was to test the hypothesis that anti-oxidant and / or anti-inflammation drugs that suppress rod death in cyclic light-reared Pde6brd10 mice are also effective in dark-reared Pde6brd10 mice. METHODS. In untreated dark-reared Pde6brd10 mice at post-natal (P) days 23 to 24, we measured the outer nuclear layer (ONL) thickness (histology) and dark-light thickness difference in external limiting membrane-retinal pigment epithelium (ELM-RPE) (optical coherence tomography [OCT]), retina layer oxidative stress (QUEnch-assiSTed [QUEST] magnetic resonance imaging [MRI]); and microglia/macrophage-driven inflammation (immunohistology). In dark-reared P50 Pde6brd10 mice, ONL thickness was measured (OCT) in groups given normal chow or chow admixed with methylene blue (MB) + Norgestrel (anti-oxidant, anti-inflammatory), or MB or Norgestrel separately. RESULTS. P24 Pde6brd10 mice showed no significant dark-light ELM-RPE response in superior and inferior retina consistent with high cGMP levels. Norgestrel did not significantly suppress the oxidative stress of Pde6brd10 mice that is only found in superior central outer retina of males at P23. Overt rod degeneration with microglia/macrophage activation was observed but only in the far peripheral superior retina in male and female P23 Pde6brd10 mice. Significant rod protection was measured in female P50 Pde6brd10 mice given 5 mg/kg/day MB + Norgestrel diet; no significant benefit was seen with MB chow or Norgestrel chow alone, nor in similarly treated male mice. CONCLUSIONS. In early rod degeneration in dark-reared Pde6brd10 mice, little evidence is found in central retina for spatial associations among biomarkers of the PDE6B mutation, oxidative stress, and rod death; neuroprotection at P50 was limited to a combination of anti-oxidant/anti-inflammation treatment in a sex-specific manner.

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“…The non-stationary and multi-frequency characteristics of biomedical signals confirm the need for a time-frequency domain method for analysis. The time-frequency analysis provides simultaneous interpretations in both time and frequency domains enabling explanation, presentation, and interpretation of ERG signals [60].…”

Section: E Time-frequency Analysismentioning

confidence: 99%

Feature Extraction Methods for Electroretinogram Signal Analysis: A Review

2021

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Feature extraction is an essential aspect of Electroretinogram (ERG) signal analysis. The extracted features are beneficial to analyze the signal further and compress the signal for storage or transmission purposes. Various methods have been widely employed to extract the characteristics of ERG signals. Methods based on the time-domain, frequency-domain, time-frequency domain and nonlinear and chaotic feature extraction techniques have been used to extract features that characterize ERG signals. This paper reviews several feature extraction methods applied to ERG and compares their performance under different conditions to provide guidance to select the most appropriate feature extraction method based on the performance.

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Sex-related differences in the progressive retinal degeneration of the rd10 mouse

Cited by 20 publications

References 26 publications

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene

Stationary and Progressive Phenotypes Caused by the p.G90D Mutation in Rhodopsin Gene

Rod Photoreceptor Neuroprotection in Dark-RearedPde6brd10Mice

Feature Extraction Methods for Electroretinogram Signal Analysis: A Review

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