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Handbook of Bioelectronics (Directly Interfacing Electronics and Biological Systems) || Photovoltaic retinal prosthesis for restoring sight to the blind
摘要： Age-related macular degeneration (AMD) is one of the leading causes of blindness in the developed world, with an incidence of 1:500 in patients aged 55–64, and 1:8 in patients over 85 [1]. Retinitis pigmentosa (RP) is an inherited disease blinding about 1 in every 4000 individuals much earlier in life [2]. In both of these conditions the photoreceptor layer degenerates, while the inner retinal neurons survive to a large extent [3–5]. Electrically activating these neurons provides an alternative route for visual information and raises hope for the restoration of sight to the blind.
关键词： age-related macular degeneration,restoring sight,Photovoltaic retinal prosthesis,blindness,retinitis pigmentosa
更新于2025-09-12 10:27:22
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Rapid anterior capsule contraction after femtosecond laser–assisted cataract surgery in a patient with retinitis pigmentosa
摘要： We report a case of rapid and extreme capsule contraction after uneventful femtosecond laser–assisted cataract surgery (FLACS) in one eye performed subsequent to uneventful standard phacoemulsification with manual continuous curvilinear capsulorhexis (CCC) creation in the fellow eye. In the setting of retinitis pigmentosa, the rapid and extreme anterior capsule contraction in the FLACS eye compared with the manual CCC eye might have been the result of release of inflammatory mediators from cell death during the laser capsulotomy combined with a structurally weaker CCC edge.
关键词： manual continuous curvilinear capsulorhexis,capsule contraction,femtosecond laser–assisted cataract surgery,retinitis pigmentosa
更新于2025-09-11 14:15:04
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A novel CRX variant (p.R98X) is identified in a Chinese family of Retinitis pigmentosa with atypical and mild manifestations
摘要： Background Retinitis pigmentosa (RP) is the most common form of hereditary retinal degeneration that can cause inherited blindness. RP has extreme genetic and clinical heterogeneity, which brings a major obstacle to obtaining an accurate molecular diagnosis. Objective To analyze the genetic defect in a Chinese family of RP with a few atypical manifestations. Methods Whole-exome sequencing (WES) was applied to identify the disease-associated genes. Sanger sequencing was performed to validate the variants of candidate genes in the patient and his parents. In vitro expression analysis was further conducted to examine the potential biological function of the gene variant. Results A heterozygous nonsense variant c.292C > T (p.R98X) of CRX gene was identified to be present in the affected male. The c.292C > T variant of CRX was absent in all of the searched databases, including the 10,000 Chinese exome database. The nonsense variant was supposed to result in a truncated CRX protein with a destroyed homedomain (HD), which is essential for CRX translation. Interestingly, the following assay showed that the potential truncated protein was not detected, indicating that the variant may cause a loss-of-function mutation of CRX gene. Conclusion We identified a novel heterozygous null mutation in the CRX gene which was the first evidence of a nonsense mutation in the HD domain of CRX. Our finding suggested that the haploinsufficiency mutation of CRX gene contributed to the atypical and mild manifestations of the autosomal dominant RP in the Chinese family.
关键词： Retinitis pigmentosa (RP),Nonsense mutation,Whole exome sequence,CRX
更新于2025-09-11 14:15:04
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Müller glia phagocytose dead photoreceptor cells in a mouse model of retinal degenerative disease
摘要： Retinitis pigmentosa is a devastating, blinding disorder that affects 1 in 4000 people worldwide. During the progression of the disorder, phagocytic clearance of dead photoreceptor cell bodies has a protective role by preventing additional retinal damage from accumulation of cellular debris. However, the cells responsible for the clearance remain unidentified. Taking advantage of a mouse model of retinitis pigmentosa (RhoP23H/P23H), we clarified the roles of M ¨uller glia in the phagocytosis of rod photoreceptor cells. During the early stage of retinal degeneration, M ¨uller glial cells participated in the phagocytosis of dying or dead rod photoreceptors throughout the outer nuclear layer. Nearly 50% of M ¨uller glia engaged in phagocytosis. Among the M ¨uller phagosomes, >90% matured into phagolysosomes. Those observations indicated that M ¨uller glial cells are the primary contributor to phagocytosis. In contrast, macrophages migrate to the inner part of the outer nuclear layer during photoreceptor degeneration, participating in the phagocytosis of a limited population of dying or dead photoreceptor cells. In healthy retinas of wild-type mice, M ¨uller glial cells phagocytosed cell bodies of dead rod photoreceptors albeit at a lower frequency. Taken together, the phagocytic function of M ¨uller glia is responsible for retinal homeostasis and reorganization under normal and pathologic conditions.
关键词： retinitis pigmentosa,phagocytosis,rod photoreceptors,rhodopsin
更新于2025-09-10 09:29:36
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Photobiomodulation for the treatment of retinal diseases: a review
摘要： Photobiomodulation (PBM), also known as low level laser therapy, has recently risen to the attention of the ophthalmology community as a promising new approach to treat a variety of retinal conditions including age-related macular degeneration, retinopathy of prematurity, diabetic retinopathy, Leber's hereditary optic neuropathy, amblyopia, methanol-induced retinal damage, and possibly others. This review evaluates the existing research pertaining to PBM applications in the retina, with a focus on the mechanisms of action and clinical outcomes. All available literature until April 2015 was reviewed using PubMed and the following keywords: 'photobiomodulation AND retina', 'low level light therapy AND retina', 'low level laser therapy AND retina', and 'FR/NIR therapy AND retina'. In addition, the relevant references listed within the papers identified through PubMed were incorporated. The literature supports the conclusion that the low-cost and non-invasive nature of PBM, coupled with the first promising clinical reports and the numerous preclinical-studies in animal models, make PBM well-poised to become an important player in the treatment of a wide range of retinal disorders. Nevertheless, large-scale clinical trials will be necessary to establish the PBM therapeutic ranges for the various retinal diseases, as well as to gain a deeper understanding of its mechanisms of action.
关键词： low level laser therapy,age-related macular degeneration,retinopathy of prematurity,photobiomodulation,retinal degeneration,amblyopia,far-red to near-infrared,methanol toxicity,retinitis pigmentosa
更新于2025-09-10 09:29:36
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Repeatability of Cone Spacing Measures in Eyes With Inherited Retinal Degenerations
摘要： PURPOSE. To determine short-term variability of adaptive optics scanning laser ophthalmoscopy (AOSLO)–derived cone spacing measures in eyes with inherited retinal degenerations (IRD) and in normal eyes. METHODS. Twenty IRD patients and 10 visually normal subjects underwent AOSLO imaging at two visits separated by no more than 1 month (NCT00254605). Cone spacing was measured in multiple macular regions in each image by three independent graders. Variability of cone spacing measures between visits, between graders, and between eyes was determined and correlated with standard clinical measures. RESULTS. Cone spacing was measured in 2905 regions. Interobserver agreement was high both in normal eyes and eyes with IRD (mean intraclass correlation coef?cient [ICC] ? 0.838 for normal and 0.892 for eyes with IRD). Cone spacing measures were closely correlated between visits (ICC > 0.869 for both study groups). Mean relative intervisit spacing difference (absolute difference in measures divided by the mean at each region) was 4.0% for normal eyes and 4.9% for eyes with IRD. Cone spacing measures from fellow eyes of the same subject showed strong agreement for all subjects (ICC > 0.85 for both study groups). CONCLUSIONS. Adaptive optics scanning laser ophthalmoscopy–derived macular cone spacing measures were correlated between observers, visits, and fellow eyes of the same subject in normal eyes and in eyes with IRD. This information may help establish the role of cone spacing measures derived from images of the cone mosaic obtained with AOSLO as a sensitive biomarker for longitudinal tracking of photoreceptor loss during disease progression and in response to treatment. (ClinicalTrials.gov number, NCT00254605.)
关键词： retinal,adaptive optics,photoreceptor,imaging,retinitis pigmentosa,retinal degeneration
更新于2025-09-10 09:29:36
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Clinical Correlation between Retinal Sensitivity and Foveal Thickness in Retinitis Pigmentosa Patients
摘要： Purpose: To investigate the relationship between retinal structure and retinal sensitivity comparing data obtained using spectral-domain optical coherence tomography (SD-OCT) and microperimetry in retinitis pigmentosa (RP) and healthy patients. Methods: A total of 49 patients (98 eyes) with RP were divided into 4 groups according to the OCT findings: group A, patients with no macular changes; group B, patients with cystoid macular edema (CME); group C, patients with vitreomacular traction (VMT); group D, patients with retinal thinning. As a control group, we enrolled 27 healthy subjects. All subjects underwent a complete ophthalmologic examination, including SD-OCT and microperimetry. For the statistical analysis, Pearson correlation test and linear regression analysis were used. A p value <0.05 was considered statistically significant. Results: We did not find any significant difference in best-corrected visual acuity (BCVA), foveal thickness, or retinal sensitivity between group A and the healthy subjects (p>0.05). In group B, linear regression of logMAR versus foveal thickness and retinal sensitivity versus foveal thickness gave r values of 0.931 and 0.786, respectively. In group C, r values were 0.786 and 0.842, respectively, while in group D they were 0.816 and 0.795. Conclusions: This article shows the first application of the new microperimeter MP3 in patients with RP, which has proven to be very sensitive in detecting functional abnormalities in all the patients. Future studies should investigate the relationships among photoreceptor cell loss, retinal sensitivity, and fixation in patients with RP.
关键词： MP3,Microperimetry,Retinitis pigmentosa,Optical coherence tomography,Retinal sensitivity,Foveal thickness
更新于2025-09-10 09:29:36
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[Essentials in Ophthalmology] Advances in Vision Research, Volume II (Genetic Eye Research in Asia and the Pacific) || The Genetics of Inherited Retinal Diseases in the Israeli and Palestinian Populations: A Lesson from Populations with High Rates of Consanguinity
摘要： Inherited retinal diseases (IRDs) are disorders that cause visual loss mainly due to photoreceptor degeneration. The prevalence of IRDs in the Israeli and Palestinian populations was reported to be higher compared to other studied populations. The structures of the Israeli and Palestinian populations are unique mainly because of the large number of ethnic groups. In addition, high rates of consanguinity and intra-community marriages resulted in a high proportion of families with autosomal recessive inheritance patterns. The study of Israeli and Palestinian IRD families resulted so far in the identification of mutations in 74 IRD genes, including 23 novel genes that were identified mainly using the homozygosity mapping and whole exome sequencing techniques. The history and tradition of these populations led to common founder mutations that are usually subpopulation-specific. Such mutations allow a more efficient genetic analysis in searching for the causative gene. However, some founder mutations are shared among different ethnicities and are likely to be the result of a common origin of these ethnic groups, which may have an estimated divergence time of a few thousand years. There is a large variability of retinal phenotypes among patients, while mutations in the same gene can result either in the same phenotype or variable phenotypes that are usually mutation-dependent. There is currently no cure for the vast majority of IRD types; however recent advances bring new hope for curing or at least delaying the degeneration process in the near future.
关键词： Population,Genotype-phenotype correlation,Heterogeneous disease,Mutation,Consanguinity,Retinitis pigmentosa,Gene,Homozygosity mapping
更新于2025-09-10 09:29:36
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High Symmetry of Visual Acuity and Visual Fields in <i>RPGR</i> -Linked Retinitis Pigmentosa
摘要： PURPOSE. Mutations in retinitis pigmentosa GTPase regulator (RPGR) cause 70% to 90% of X-linked retinitis pigmentosa (XLRP3) cases, making this gene a high-yield target for gene therapy. This study analyzed the utility of relevant clinical biomarkers to assess symmetry and rate of progression in XLRP3. METHODS. A retrospective, cross-sectional analysis of 50 XLRP3 patients extracted clinical data including visual acuity (VA), visual fields (I4e and III4e targets), foveal thickness, and ERG data points alongside molecular genetic data. Symmetry was assessed by using linear regression analysis. Kaplan-Meier survival curves (KMCs) and generalized linear mixed model calculations were used to describe disease progression. RESULTS. Ninety-six percent of patients exhibited a rod–cone phenotype, and 4% a cone–rod phenotype. Open reading frame 15 (ORF15) was confirmed as a mutational hotspot within RPGR harboring 73% of exonic mutations. Significant variability, but no clear genotype–phenotype relationship, could be shown between mutations located in exons 1–14 versus ORF15. All biomarkers suggested a high degree of symmetry between eyes but demonstrated different estimates of disease progression. VA and foveal thickness, followed by perimetry III4e, were the most useful endpoints to evaluate progression. KMC estimates predicted a loss of 6/6 vision at a mean of 34 years (62.9; 95% confidence interval). CONCLUSIONS. XLRP3 affects retinal structure and function symmetrically, supporting the use of the fellow eye as an internal control in interventional trials. VA and kinetic visual fields (III4e) seem promising functional outcome measures to assess disease progression. KMC analysis predicted the most severe decline in vision between the third and fourth decade of life.
关键词： gene therapy,retinitis pigmentosa GTPase regulator (RPGR),retinitis pigmentosa,disease progression
更新于2025-09-09 09:28:46
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Photoreceptor actin dysregulation in syndromic and non-syndromic retinitis pigmentosa
摘要： Retinitis pigmentosa (RP) is the leading cause of inherited blindness. RP is a genetically heterogeneous disorder, with more than 100 different causal genes identified in patients. Central to disease pathogenesis is the progressive loss of retinal photoreceptors. Photoreceptors are specialised sensory neurons that exhibit a complex and highly dynamic morphology. The highly polarised and elaborated architecture of photoreceptors requires precise regulation of numerous cytoskeletal elements. In recent years, significant work has been placed on investigating the role of microtubules (specifically, the acetylated microtubular axoneme of the photoreceptor connecting cilium) and their role in normal photoreceptor function. This has been driven by the emerging field of ciliopathies, human diseases arising from mutations in genes required for cilia formation or function, of which RP is a frequently reported phenotype. Recent studies have highlighted an intimate relationship between cilia and the actin cytoskeleton. This review will focus on the role of actin in photoreceptors, examining the connection between actin dysregulation in RP.
关键词： Espin,RP2,Myosin VIIa,photoreceptor,CRB1,cytoskeleton,actin,Retinitis pigmentosa,Whirlin,FSCN2,cilia,RPGR,PROM1
更新于2025-09-09 09:28:46