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1.
Ophthalmol Sci ; 5(1): 100525, 2025.
Article in English | MEDLINE | ID: mdl-39328823

ABSTRACT

Purpose: To assess the feasibility of a second-generation (44-channel) suprachoroidal retinal prosthesis for provision of functional vision in recipients with end-stage retinitis pigmentosa (RP) over 2.7 years. Design: Prospective, single-arm, unmasked interventional clinical trial. Participants: Four participants, with advanced RP and bare-light perception vision. Methods: The 44-channel suprachoroidal retinal prosthesis was implanted in the worse-seeing eye. Device stability, functionality, and adverse events were investigated at approximately 12-week intervals up to 140 weeks (2.7 years) postdevice activation. Main Outcome Measures: Serious adverse event (SAE) reporting, visual response outcomes, functional vision outcomes, and quality-of-life outcomes. Results: All 4 participants (aged 39-66 years, 3 males) were successfully implanted in 2018, and there were no device-related SAEs over the duration of the study. A mild postoperative subretinal hemorrhage was detected in 2 recipients, which cleared spontaneously within 2 weeks. OCT confirmed device stability and position under the macula. Improvements in localization abilities were demonstrated for all 4 participants in screen-based, tabletop, and orientation and mobility tasks. In addition, 3 of 4 participants recorded improvements in motion discrimination and 2 of 4 participants recorded substantial improvements in spatial discrimination and identification of tabletop objects. Participants reported their unsupervised use of the device included exploring new environments, detecting people, and safely navigating around obstacles. A positive effect of the implant on participants' daily lives in their local environments was confirmed by an orientation and mobility assessor and participant self-report. Emotional well-being was not impacted by device implantation or usage. Conclusions: The completed clinical study demonstrates that the suprachoroidal prosthesis raises no safety concerns and provides improvements in functional vision, activities of daily living, and observer-rated quality of life. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

2.
Ophthalmol Sci ; 5(1): 100589, 2025.
Article in English | MEDLINE | ID: mdl-39328826

ABSTRACT

Purpose: To evaluate the feasibility and safety of intravitreal injection of autologous CD34+ stem cells from bone marrow (BMSCs) in eyes with vision loss from retinitis pigmentosa (RP). Design: Phase I prospective, open-label, single-center study. Participants: Seven eyes (7 patients) with RP with best-corrected visual acuity (BCVA) of 20/60 to 20/400 or visual field constriction to within 10°. Methods: A comprehensive examination with ETDRS BCVA, macular OCT, perimetry, and fluorescein angiography was performed at baseline, 1 to 3 months, and 6 months after study treatment. Bone marrow aspiration, isolation of CD34+ BMSCs under good manufacturing practice conditions, and intravitreal cell injection were performed on the same day. The CD34+ cells were isolated from bone marrow using a Ficoll gradient and the Miltenyi CliniMACS system. Isolated CD34+ cells were released for clinical use if viability, sterility, and purity met the release criteria accepted by the United States Food and Drug Administration for this clinical study. Main Outcome Measures: Number of CD34+ cells isolated for injection and adverse events associated with study treatment during follow-up. Secondary outcome measures are changes in BCVA and perimetry. Results: All isolated CD34+ cells passed the release criteria. A mean of 3.26 ± 0.66 million viable CD34+ cells (range 1.6 to 7.05 million) were injected intravitreally per eye. No adverse event was noted during the study follow-up except for 1 participant who was noted with transient cells in the anterior chamber with mild elevation in intraocular pressure at 18 hours after study injection which normalized by 24 hours. Best-corrected visual acuity remained within 2 lines of baseline or improved in all participants at 6 months follow-up. Perimetry was stable or improved in all eyes during study follow-up except 1 eye with transient improvement at 1 month and worsening of both eyes at 6 months. Conclusions: Intravitreal injection of autologous CD34+ BMSCs is feasible and appears to be well tolerated in eyes with vision loss from RP. A larger randomized prospective study would be needed to evaluate further the safety and potential efficacy of this cell therapy for vision loss associated with RP. Financial Disclosures: Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.

3.
Arq. bras. oftalmol ; 88(1): e2022, 2025. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1568851

ABSTRACT

ABSTRACT A young woman presented at our clinic with sudden visual loss in the right eye, recurrent vertigo, and right-sided tinnitus. We performed a complete ophthalmological evaluation. This revealed effects of the condition on the small arterioles of the peripheral retina. Susac syndrome is characterized by the clinical triad of retinal arteriolar occlusions, cochleovestibular manifestations, and encephalopathy (which can be identified by neuroimaging abnormalities). Early diagnosis and immunosuppressive therapy improved the patient's visual acuity and the remission of her other symptoms. Hemi-central retinal artery occlusion is an atypical neuro-ophthalmological finding in this disease. However, its identification as a sign of Susac syndrome may facilitate timely diagnosis and accurate treatment.

4.
Biomaterials ; 313: 122770, 2025 Feb.
Article in English | MEDLINE | ID: mdl-39226653

ABSTRACT

Major advances have been made in utilizing human-induced pluripotent stem cells (hiPSCs) for regenerative medicine. Nevertheless, the delivery and integration of hiPSCs into target tissues remain significant challenges, particularly in the context of retinal ganglion cell (RGC) restoration. In this study, we introduce a promising avenue for providing directional guidance to regenerated cells in the retina. First, we developed a technique for construction of gradient interfaces based on functionalized conductive polymers, which could be applied with various functionalized ehthylenedioxythiophene (EDOT) monomers. Using a tree-shaped channel encapsulated with a thin PDMS and a specially designed electrochemical chamber, gradient flow generation could be converted into a functionalized-PEDOT gradient film by cyclic voltammetry. The characteristics of the successfully fabricated gradient flow and surface were analyzed using fluorescent labels, time of flight secondary ion mass spectrometry (TOF-SIMS), and X-ray photoelectron spectroscopy (XPS). Remarkably, hiPSC-RGCs seeded on PEDOT exhibited improvements in neurite outgrowth, axon guidance and neuronal electrophysiology measurements. These results suggest that our novel gradient PEDOT may be used with hiPSC-based technologies as a potential biomedical engineering scaffold for functional restoration of RGCs in retinal degenerative diseases and optic neuropathies.


Subject(s)
Induced Pluripotent Stem Cells , Polymers , Retinal Ganglion Cells , Humans , Retinal Ganglion Cells/metabolism , Retinal Ganglion Cells/cytology , Induced Pluripotent Stem Cells/cytology , Polymers/chemistry , Axon Guidance , Bridged Bicyclo Compounds, Heterocyclic/chemistry , Bridged Bicyclo Compounds, Heterocyclic/pharmacology , Surface Properties , Electric Conductivity , Nerve Growth Factors/metabolism , Axons/metabolism , Axons/physiology
5.
Methods Mol Biol ; 2848: 117-134, 2025.
Article in English | MEDLINE | ID: mdl-39240520

ABSTRACT

Retinal degenerative diseases including age-related macular degeneration and glaucoma are estimated to currently affect more than 14 million people in the United States, with an increased prevalence of retinal degenerations in aged individuals. An expanding aged population who are living longer forecasts an increased prevalence and economic burden of visual impairments. Improvements to visual health and treatment paradigms for progressive retinal degenerations slow vision loss. However, current treatments fail to remedy the root cause of visual impairments caused by retinal degenerations-loss of retinal neurons. Stimulation of retinal regeneration from endogenous cellular sources presents an exciting treatment avenue for replacement of lost retinal cells. In multiple species including zebrafish and Xenopus, Müller glial cells maintain a highly efficient regenerative ability to reconstitute lost cells throughout the organism's lifespan, highlighting potential therapeutic avenues for stimulation of retinal regeneration in humans. Here, we describe how the application of single-cell RNA-sequencing (scRNA-seq) has enhanced our understanding of Müller glial cell-derived retinal regeneration, including the characterization of gene regulatory networks that facilitate/inhibit regenerative responses. Additionally, we provide a validated experimental framework for cellular preparation of mouse retinal cells as input into scRNA-seq experiments, including insights into experimental design and analyses of resulting data.


Subject(s)
Ependymoglial Cells , Retina , Single-Cell Analysis , Animals , Mice , Single-Cell Analysis/methods , Retina/metabolism , Ependymoglial Cells/metabolism , Regeneration/genetics , Sequence Analysis, RNA/methods , Retinal Degeneration/genetics , Retinal Degeneration/therapy , RNA-Seq/methods , Disease Models, Animal
6.
Methods Mol Biol ; 2848: 151-167, 2025.
Article in English | MEDLINE | ID: mdl-39240522

ABSTRACT

High-quality imaging of the retina is crucial to the diagnosis and monitoring of disease, as well as for evaluating the success of therapeutics in human patients and in preclinical animal models. Here, we describe the basic principles and methods for in vivo retinal imaging in rodents, including fundus imaging, fluorescein angiography, optical coherence tomography, fundus autofluorescence, and infrared imaging. After providing a concise overview of each method and detailing the retinal diseases and conditions that can be visualized through them, we will proceed to discuss the advantages and disadvantages of each approach. These protocols will facilitate the acquisition of optimal images for subsequent quantification and analysis. Additionally, a brief explanation will be given regarding the potential results and the clinical significance of the detected abnormalities.


Subject(s)
Disease Models, Animal , Fluorescein Angiography , Retina , Retinal Diseases , Tomography, Optical Coherence , Animals , Tomography, Optical Coherence/methods , Retinal Diseases/diagnostic imaging , Retinal Diseases/pathology , Retinal Diseases/diagnosis , Retina/diagnostic imaging , Retina/pathology , Fluorescein Angiography/methods , Mice , Rats , Rodentia , Optical Imaging/methods , Humans , Fundus Oculi
7.
Methods Mol Biol ; 2848: 169-186, 2025.
Article in English | MEDLINE | ID: mdl-39240523

ABSTRACT

The retinal explant culture system is a valuable tool for studying the pharmacological, toxicological, and developmental aspects of the retina. It is also used for translational studies such as gene therapy. While no photoreceptor-like cell lines are available for in vitro studies of photoreceptor cell biology, the retinal explant culture maintains the laminated retinal structure ex vivo for as long as a month. Human and nonhuman primate (NHP) postmortem retinal explants cut into small pieces offer the possibility of testing multiple conditions for safety and adeno-associated viral (AAV) vector optimization. In addition, the cone-enriched foveal area can be studied using the retinal explants. Here, we present a detailed working protocol for retinal explant isolation and culture from mouse, human, and NHP for testing drug efficacy and AAV transduction. Future applications of this protocol include combining live imaging and multiwell retinal explant culture for high-throughput drug screening systems in rodent and human retinal explants to identify new drugs against retinal degeneration.


Subject(s)
Dependovirus , Retina , Animals , Humans , Mice , Retina/cytology , Dependovirus/genetics , Primates , Genetic Vectors/genetics , Tissue Culture Techniques/methods , Transduction, Genetic
8.
Methods Mol Biol ; 2848: 197-214, 2025.
Article in English | MEDLINE | ID: mdl-39240525

ABSTRACT

Retinal pigment epithelium (RPE) cells derived from induced pluripotent stem cells (iPSCs) serve multiple roles, including among others, modeling RPE development in normal and pathological conditions, investigating mechanisms of RPE physiology, modeling retinal diseases involving the RPE, and developing strategies for regenerative therapies. We have developed a simple and efficient protocol to generate RPE tissue from human iPSCs-derived retinal organoids. The RPE tissue present in the retinal organoids is analogous to the native human RPE in differentiation timeline, histological organization, and key features of functional maturation. Building upon this system, we established a method to generate functionally mature, polarized RPE monolayers comparable to human primary RPE. This comprehensive protocol outlines the steps for isolating and culturing RPE tissue using retinal organoids. The outcome is a pure population of cells expressing mature RPE signatures and organized in a characteristic cobblestone monolayer featuring robust ultrastructural polarization. These RPE monolayers also exhibit the functional hallmarks of bona fide mature RPE cells, providing a suitable system to mimic the biology and function of the native human RPE.


Subject(s)
Cell Culture Techniques , Cell Differentiation , Induced Pluripotent Stem Cells , Organoids , Retinal Pigment Epithelium , Humans , Retinal Pigment Epithelium/cytology , Retinal Pigment Epithelium/metabolism , Organoids/cytology , Organoids/metabolism , Induced Pluripotent Stem Cells/cytology , Induced Pluripotent Stem Cells/metabolism , Cell Culture Techniques/methods , Cells, Cultured
9.
Methods Mol Biol ; 2848: 187-196, 2025.
Article in English | MEDLINE | ID: mdl-39240524

ABSTRACT

In several ocular diseases, degeneration of retinal neurons can lead to permanent blindness. Transplantation of stem cell (SC)-derived RGCs has been proposed as a potential therapy for RGC loss. Although there are reports of successful cases of SC-derived RGC transplantation, achieving long-distance regeneration and functional connectivity remains a challenge. To address these hurdles, retinal organoids are being used to study the regulatory mechanism of stem cell transplantation. Here we present a modified protocol for differentiating human embryonic stem cells (ESCs) into retinal organoids and transplanting organoid-derived RGCs into the murine eyes.


Subject(s)
Cell Differentiation , Human Embryonic Stem Cells , Retinal Ganglion Cells , Humans , Animals , Mice , Human Embryonic Stem Cells/cytology , Retinal Ganglion Cells/cytology , Stem Cell Transplantation/methods , Organoids/cytology , Organoids/transplantation , Cell Culture Techniques/methods , Cell- and Tissue-Based Therapy/methods , Retina/cytology , Embryonic Stem Cells/cytology
10.
Int J Retina Vitreous ; 10(1): 69, 2024 Sep 30.
Article in English | MEDLINE | ID: mdl-39350273

ABSTRACT

OBJECTIVE: To investigate the effects of two laser treatment procedures combined, short pulse grid laser (SP) and subthreshold micropulse laser (MP) (the sandwich grid [SWG] technique), plus intravitreal ranibizumab (IVR) on central subfield thickness (CSFT), best-corrected visual acuity (BCVA) and macular sensitivity in patients with diabetic macular edema (DME). METHODS: Forty-five eyes (of 33 patients) with center-involving DME were treated with the SWG laser technique plus IVR and followed for 12 months. Laser treatment was performed at baseline: SP laser spots were placed in a grid pattern in the macular area (500 µm from the fovea) according to the extension of DME; subsequently, MP laser was delivered up to the edge of the fovea. MP laser re-treatment sessions could be performed every 3 months if DME was present and CSFT was ≥ 300 µm on SD-OCT. IVR injection was performed at baseline and repeated monthly if CSFT > 300µm. Preoperatively and monthly, ophthalmological examination was performed including measurements of BCVA, CSFT, and macular sensitivity. RESULTS: One-year follow-up data is available for 37 eyes of 27 patients. Mean ± SE CSFT (µm) was 509.36 ± 25.14 and 325.76 ± 15.34 at baseline and 12 months, respectively. A significant reduction in mean CSFT was observed at all study visits compared to baseline (p < 0.001). Mean ± SE BCVA (logMAR) was 0.62 ± 0.04 and 0.45 ± 0.04 at baseline and 12 months, respectively. A significant improvement in mean BCVA was observed at all study visits compared to baseline (p < 0.001). Mean ± SE macular sensitivity (dB) was 17.85 ± 0.80 and improved to 19.05 ± 0.59 after one year of follow-up (p = 0.006). The mean number of IVR injections was 8.29 ± 0.63. The mean number of MP laser procedures including the initial SWG laser session was 3.67 ± 0.22. No ocular or systemic adverse effects were observed. CONCLUSION: The SWG laser technique plus IVR was associated with significant improvement in macular edema, BCVA, and macular sensitivity in patients with center-involving DME. CLINICAL TRIAL NUMBER (CAAE): 22969019.4.0000.5440.

11.
Int J Retina Vitreous ; 10(1): 68, 2024 Sep 30.
Article in English | MEDLINE | ID: mdl-39350305

ABSTRACT

BACKGROUND: This study aims to examine vessel density changes in the optic nerve and macula following silicone oil removal (SOR) surgery in eyes with rhegmatogenous retinal detachment (RRD) at different time points by Optical Coherence Tomography Angiography (OCTA) in compared to the contralateral eye. METHODS: A total of 43 eyes from 43 patients with silicone oil in their eyes for 3-9 months underwent OCT-A using AngioVue and optic disc-associated vessel density (VD) and thickness, macular-associated VD and thickness, Foveal avascular zone (FAZ) area, FAZ perimeter (PERIM), Acircularity index (AI), vessel density within a 300 µm wide region of the FAZ were compared between eyes. OCTA scans were performed one week before SOR and one month and three months after SOR. RESULTS: The mean age of participants was 52.8 years (SD = 15.85) and a median visual acuity was 0.8 (range: 0.5-1.0). Notably, male participants constituted 67.4% of the sample. The preoperative mean value BCVA (logMAR) of patients was 0.73, and 3 months post-oil removal was 0.7727. Regarding optic disc parameters, RNFL thickness and vessel density (VD) measurements Peripapillary, whole disc, inside disc, and Disc Angio (superior, Nasal, inferior, temporal) did not change. In analyzing macular thickness parameters, all of them (Whole and Fovea, parafoveal, and Perifovea) remained unchanged. Examining macular vessel density parameters revealed no significant changes across superficial and deep retinal layers. Finally, the comparison of the foveal avascular zone (FAZ) area and flow density (FD) parameters demonstrated consistent measurements with non-significant alterations observed in FAZ size (p = 0.6) and FD values (p = 0.49) over the monitored duration. CONCLUSION: There was no change in peripapillary VD and macular vessel density of the superficial capillary plexus (SCP) and deep capillary plexus (DCP) after silicone oil removal. FAZ and full retinal thickness  remained stable 3 month after SOR.  Clinical trial number: Not applicable.

12.
Am J Ophthalmol Case Rep ; 36: 102166, 2024 Dec.
Article in English | MEDLINE | ID: mdl-39351584

ABSTRACT

Purpose: To describe the clinical, laboratory and multimodal imaging findings in paraneoplastic autoimmune retinopathy (p-AIR) associated with anti-pyruvate kinase M2 antibody (anti-PKM2) and occult pancreatic adenocarcinoma. Observations: A 70 year old male with blurred vision, nyctalopia and concurrent difficulty with glucose control had retinal vascular attenuation and diffuse punctate pigment clumping in both eyes. Multimodal imaging demonstrated corresponding stippled hypofluorescence on fluorescein angiography, stippled hyperautofluorescence and a hyperautoflourescent macular ring with fundus autofluorescence, and focal hyperreflectivity at the level of the RPE-Bruch's membrane complex with diffuse loss of outer retinal layers on ocular coherence tomography. In addition, diffuse ganglion cell loss and severe visual field constriction were present. Genetic testing for retinitis pigmentosa was normal. Screening for anti-retinal antibodies was positive for only anti-PKM2. Systemic evaluation revealed previously undiagnosed adenocarcinoma of the pancreas. Conclusions and importance: Anti-PKM2 in the setting of autoimmune retinopathy may be associated with occult pancreatic cancer. The diagnosis of pAIR should be considered and systemic investigation for occult malignancy initiated even in the absence of more commonly associated anti-retinal antibodies.

13.
J Int Med Res ; 52(10): 3000605241284931, 2024 Oct.
Article in English | MEDLINE | ID: mdl-39351991

ABSTRACT

We report here, a case of branch retinal artery occlusion (BRAO) in the left eye of a 76-year-old man that involved three arteries which was considered to be related to a COVID-19 infection due to high levels of blood cytokines and coagulation factors. Although the patient had hypertension and atherosclerosis, his hypertension had been well controlled for the past five years by regular antihypertensive medication. Twenty-five days after starting treatment with anti-inflammatory, anticoagulant and conservative therapy, the patient's biomarkers of inflammation and coagulation returned to normal and his vision improved. However, some visual field defects remained and were probably a consequence of low oxygen saturation.


Subject(s)
COVID-19 , Retinal Artery Occlusion , SARS-CoV-2 , Humans , Retinal Artery Occlusion/etiology , Retinal Artery Occlusion/diagnosis , COVID-19/complications , COVID-19/diagnosis , COVID-19/blood , Male , Aged , SARS-CoV-2/isolation & purification , Anticoagulants/therapeutic use , Hypertension/complications
14.
Semin Ophthalmol ; : 1-6, 2024 Oct 01.
Article in English | MEDLINE | ID: mdl-39350691

ABSTRACT

PURPOSE: To quantify the risk of posterior capsule rupture (PCR) in fellow-eye phacoemulsification surgery and to determine risk factors. METHODS: We pooled data from 8 United Kingdom sites for patients undergoing bilateral non-simultaneous phacoemulsification. Main outcome measures were the incidence and risk factors of the development of PCR during the fellow-eye phacoemulsification. RESULTS: We included 66,288 patients with a mean age of 75.3 ± 10.2 years. PCR during phacoemulsification occurred in the first eye in 932 patients (1.4%) and the fellow eye in 1039 patients (1.5%). The risk of fellow eye developing PCR in patients with PCR in the first eye was significantly higher than in patients without first eye PCR: 30 patients (3.2%) vs. 1009 (1.5%), respectively (odds ratio (OR) = 1.7, 95% confidence interval (CI) = 1.1-2.7). Other risk factors for fellow-eye PCR included zonular dialysis (OR = 5.4, CI = 3.3-7.8) and advanced cataract (OR = 2.8, CI = 2.1-3.7). CONCLUSIONS: History of PCR in the first-operated eye is an independent risk factor for PCR in the fellow eye.

15.
Ann Burns Fire Disasters ; 37(3): 238-241, 2024 Sep.
Article in English | MEDLINE | ID: mdl-39350887

ABSTRACT

Photic retinopathy (PR) is due to retinal phototoxicity, especially affecting the macula, resulting from exposure to sun, welding devices and lasers. It leads to oxidative damage to the retinal pigment epithelium (RPE) and the surrounding photoreceptors. Early recognition of this visual threatening condition, follow-up lesion evolution, and prevention of prolonged ocular exposure to lights is warranted. We herein report the three principal types of retinal burns due to solar retinopathy, laser pointer-induced maculopathy and arc welding maculopathy.


La rétinopathie photique (RP) est secondaire à une phototoxicité rétinienne, affectant particulièrement la macula, résultant de l'exposition au soleil, aux appareils de soudure et aux lasers. Elle entraîne un dommage oxydatif de l'épithélium pigmentaire de la rétine (EPR) et des photorécepteurs. Il s'avère primordial de reconnaître précocement cette affection menaçant la vision, de suivre l'évolution des lésions et de prévenir une exposition oculaire prolongée aux lumières. Nous rapportons ici les trois principaux types de brûlures rétiniennes, dues à la rétinopathie solaire, à la maculopathie induite par un pointeur laser et à la maculopathie de soudure à l'arc.

16.
J. optom. (Internet) ; 17(3): [100490], jul.-sept2024. ilus, graf, tab
Article in English | IBECS | ID: ibc-231868

ABSTRACT

Purpose: To evaluate the efficacy of anti-suppression exercises in children with small-angle esotropia in achieving binocular vision. Methods: A retrospective review of patients aged 3–8 years who underwent anti-suppression exercises for either monocular or alternate suppression between January 2016 and December 2021 was conducted. Patients with esotropia less than 15 prism diopters (PD) and visual acuity ≥ 6/12 were included. Patients with previous intra-ocular surgery or less than three-month follow-up were excluded. Success was defined as the development of binocular single vision (BSV) for distance, near, or both (measured clinically with either the 4 prism base out test or Worth four dot test) and maintained at two consecutive visits. Qualified success was defined as the presence of diplopia response for both distance and near. Additionally, improvement in near stereo acuity was measured using the Stereo Fly test. Results: Eighteen patients with a mean age of 5.4 ± 1.38 years (range 3–8 years) at the time of initiation of exercises were included in the study. The male female ratio was 10:8. The mean best corrected visual acuity was 0.18 LogMAR unit(s) and the mean spherical equivalent was +3.8 ± 0.14 diopters (D). The etiology of the esotropia was fully accommodative refractive esotropia (8), microtropia (1), post–operative infantile esotropia (4), partially accommodative esotropia (1), and post-operative partially accommodative esotropia (4). Patients received either office-based, home-based, or both modes of treatment for an average duration of 4.8 months (range 3–8). After therapy, BSV was achieved for either distance or near in 66.6 % of patients (95 % CI = 40.03–93.31 %). Binocular single vision for both distance and near was seen in 50 % of children. Qualified success was observed in 38.46% of patients. Persistence of suppression was observed in one patient (5.5 %)... (AU)


Subject(s)
Humans , Child , Suppression , Vision, Binocular , Esotropia , Visual Acuity , Therapeutics
17.
Am J Ophthalmol ; 2024 Sep 18.
Article in English | MEDLINE | ID: mdl-39303928

ABSTRACT

PURPOSE: Inherited retinal dystrophies (IRDs) lead to significant vision impairment. Refractive errors (RE) are also associated with vision impairment and an increased risk of ocular comorbidities and may compound impairment caused by IRDs. Identifying the pattern of RE in IRDs may assist in the better management of patients with IRD and provide insights into understanding genetic associations with RE. The aim of this study was to investigate the patterns of RE in patients with IRD from three academic ophthalmology referral centers. DESIGN: Retrospective tri-center cohort study. METHODS: Chart review of clinically and molecularly confirmed IRD cases seen at the University of California San Diego, Oregon Health & Science University, and Children's Hospital Los Angeles. Data retrieved included: demographics, disease phenotype, genotype, best-corrected visual acuity, objective, and/or subjective refraction. RESULTS: A total of 1942 patient notes were reviewed, of these 634 patients (1255 eyes) had refractive data. For genes associated with myopia, NYX (n=14 [1%]) was associated with the highest SER of myopia (mean -9.26 diopters (D) [95% CI -11.867, -6.651], P<0.001) followed by IMPG2 (n=16 [1.1%]) (mean -4.062 D [95% CI -6.254, -1.871], P=0.002), then RPGR (n=104 [7.2%]) (mean -2.664 D [95% CI [-3.618, -1.710], P=0.016) and for genes associated with hyperopia, BEST1 (n= 38 [2.6%]) had the highest SER for hyperopia (mean 2.996 D [95% CI 1.830, 4.162], P<0.001) followed by RS1 (n=26 [1.8%]) (mean 2.562 D [95% CI 1.454, 3.671], P<0.001), then CNGA3 (n=28 [1.9%]) (mean 0.603 D [(95% CI -0.48, 1.686]), P=0.009). Overall patients with IRD were significantly more myopic than age matched population controls. (n=eyes) CONCLUSION: By combining genetic testing with refraction data from a large cohort of patients, we identify IRD genes associated with myopia and hyperopia. However, we find that the pattern of ametropia varies widely not only by gene but also within a gene cohort. The genes identified to be associated with RE are candidates for further in-depth investigation to understand their functional role in RE.

18.
BMC Ophthalmol ; 24(1): 412, 2024 Sep 20.
Article in English | MEDLINE | ID: mdl-39304858

ABSTRACT

BACKGROUND: This study aimed to precisely predict the size and silicone oil injection of a foldable capsular vitreous body (FCVB) via computerized three-dimensional (3D) ocular reconstruction in the treatment of severe retinal detachment in China. METHODS: The 3D software Unigraphics NX was applied to determine the volume of the inner cavity with 16-30 mm axial length, assigning the anterior and posterior chambers, the FCVB sizes, and the silicone oil injection volume, and modeling the data between the axial length and the FCVB size. In clinical practice, IOL Master was applied to accurately measure the axial length of the contralateral healthy eye to anchor the anterior-posterior and horizontal diameters of the operated eye in horizontal position CT, and compared with the model to recommend the FCVB size and silicone oil amount, and the clinical effect was validated in cases across five hospitals in China. RESULTS: For the axial length of 16-30 mm, the volume of the inner cavity is 1.2 ml-8.4 ml. FCVB size and silicone oil volume were recommended based on this volume of the inner cavity. Of 253 cases, we noted 11 cases implanted with AV-10P and 1.05 ± 0.21 ml of silicone oil, 41 with AV-12P and 1.58 ± 0.18 ml of silicone oil, 163 with AV-13.5P and 2.48 ± 0.29 ml of silicone oil, 31 with AV-15P and 3.57 ± 0.39 ml of silicone oil, and 7 with AV-17P and 5.71 ± 0.81 ml of silicone oil. There was no significant difference in postoperative visual acuity scores compared with preoperative (P = 0.097), postoperative IOP(10.29 ± 0.57mmHg)was slightly higher than preoperative IOP (9.76 ± 0.48 mmHg), but there was still no statistically significant difference between the two comparisons (P = 0.405). CONCLUSION: Three-dimensional reconstruction prediction is a good solution for eyeballs with obvious individualized changes in severe retinal detachment, and this method helps doctors standardize FCVB size selection and the silicone oil amount for patients.


Subject(s)
Imaging, Three-Dimensional , Retinal Detachment , Silicone Oils , Vitreous Body , Humans , Retinal Detachment/surgery , Silicone Oils/administration & dosage , Middle Aged , Male , Female , Adult , Vitreous Body/pathology , Vitreous Body/diagnostic imaging , Vitrectomy/methods , Aged , Young Adult , Endotamponade/methods , Adolescent , Visual Acuity/physiology
19.
Zhongguo Zhong Yao Za Zhi ; 49(16): 4521-4531, 2024 Aug.
Article in Chinese | MEDLINE | ID: mdl-39307788

ABSTRACT

The multivariate statistical analysis was performed to compare the therapeutic effects of Lycii Fructus from different origins on the retinal degenerative diseases(RDD) in mice. The mouse model of RDD was established by intraperitoneal injection of NaIO_3, and the visual function and retinal apoptosis were assessed by dark-light transition and TUNEL assay. Retinal thickness was measured by fundus optical coherence tomography(OCT), and the levels of antioxidant, inflammatory, and angiogenic markers in the serum and eyeball were determined. The therapeutic effects were compared by hierarchical cluster analysis, principal component analysis, and partial least squares-discriminant analysis. The results showed that the extracts of Lycii Fructus from different origins reversed NaIO_3-induced visual damage and retinal apoptosis, reduced oxidative stress, and restored the expression of inflammatory mediators and angiogenic markers in mice. The multivariate statistical analysis based on 17 pharmacodynamic indices suggested that the extract of Lycii Fructus from Ningxia demonstrated better therapeutic effects on RDD than the samples from the other four origins. The results of this study provide a scientific basis for the selection of the advantageous production region of Lycii Fructus for the prevention and treatment of RDD.


Subject(s)
Drugs, Chinese Herbal , Lycium , Animals , Mice , Lycium/chemistry , Drugs, Chinese Herbal/administration & dosage , Drugs, Chinese Herbal/chemistry , Drugs, Chinese Herbal/pharmacology , Multivariate Analysis , Male , Retinal Degeneration/drug therapy , Fruit/chemistry , Retina/drug effects , Oxidative Stress/drug effects , Humans , Disease Models, Animal , Apoptosis/drug effects
20.
Eur J Ophthalmol ; : 11206721241286125, 2024 Sep 23.
Article in English | MEDLINE | ID: mdl-39308451

ABSTRACT

PURPOSE: To assess the prevalence of fovea plana in patients with rhegmatogenous retinal detachment and compare characteristics of the detachment between patients with and without fovea plana. METHODS: This retrospective, cross-sectional, case-control study included individuals with rhegmatogenous retinal detachment. We collected demographics and data on the operated eye, spherical equivalent, best-corrected visual acuity, lens status, macula status, number of retinal holes or tears, and presence of intravitreal hemorrhage, macular hole, epiretinal membrane, posterior vitreous detachment and proliferative vitreoretinopathy. The type of surgery, the tamponade, and cataract surgery following retinal surgery were also recorded. Spectral-domain optical coherence tomography macular cubes were used to evaluate the fovea by using the Spectralis HRA-OCT device (Heidelberg Engineering, Germany). Images were graded by two different investigators and a third investigator in case of disagreement. RESULTS: We included 204 individuals; 35 (17.2%) had fovea plana, a proportion significantly higher than in the general population (p = 0.041). Individuals with and without fovea plana did not differ in any of the characteristics mentioned above apart from posterior vitreous detachment, which was more frequent in those with than without fovea plana (p = 0.038). CONCLUSION: The prevalence of fovea plana is higher in patients with rhegmatogenous retinal detachment, which suggests an association between fovea plana and potential vitreoretinal interface changes.

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