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Asymptomatic Unexplained Visual Field Loss Diagnosed as Early Retinitis Pigmentosa without Pigmentation: A Case Report
摘要： Purpose: We report a case of asymptomatic unexplained visual field loss diagnosed as early retinitis pigmentosa (RP) without pigmentation. Case summary: A 33-year-old woman was referred to us with a constricted visual field (C24-2) before laser-assisted in-situ keratomileusis surgery. The visual field test (C30-2) revealed significantly decreased sensitivity between 15 to 25 degrees in both eyes. Close fundus examination revealed a subtle greyish retinal atrophic lesion along the vascular arcade and fluorescein angiography revealed a window defect in accordance with a retinal atrophic lesion in both eyes. Optical coherence tomography showed decreased retinal thickness around the macula. Electroretinogram revealed decreased b waves in rod response. Based on these findings, we diagnosed the patient with early RP without pigmentation. Conclusions: The possibility of early RP without pigmentation presenting as slight atrophy around the macula without significant pigmental degeneration should also be considered if a patient presents with peripheral visual field constriction without other symptoms. The ophthalmologist should ensure that the location of the visual field defect matches the location of the lesion. In addition, a detailed fundus examination with macular optical coherence tomography can be helpful to diagnose such a lesion.
关键词： Constricted central visual field,Electroretinogram,Macular optical coherence tomography,Early retinitis pigmentosa (RP) without pigmentation
更新于2025-09-09 09:28:46
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Argus II retinal prosthesis malrotation and repositioning with intraoperative optical coherence tomography in a posterior staphyloma
摘要： The Argus II retinal prosthesis may improve visual function in patients with severe vision loss from retinitis pigmentosa. Optimal centration of the electrode array over the macula is important to achieve optimal visual results. Argus tack malrotation is a novel entity that may be encountered during placement, especially in patients with posterior staphyloma. Methods: Retrospective case review. Results: During tacking of the electronics array a clockwise rotation occurred resulting in malposition. We hypothesize this was secondary to undue rotation or posterior pressure applied during tack insertion in conjunction with placement over a previously unrecognized posterior staphyloma. Intraoperative optical coherence tomography, because of the cross-sectional images provided, was helpful in visualizing the distance between the electronics array and the retina, which was difficult to assess using the surgical microscope alone. Repositioning was achieved by adjusting the tack without removal. The patient experienced an improvement in vision as a result of the surgery. Conclusion: Malrotation may occur when tacking the Argus II prosthesis, and the presence of a posterior staphyloma may increase this risk. It is important to differentiate malrotation from tack misplacement – the former may be addressed with array unrotation or partial tack withdrawal and the latter may require tack removal and reinsertion. Also, intraoperative optical coherence tomography may be helpful in characterizing electronics array position during surgery.
关键词： retinal tack,retinitis pigmentosa,Argus
更新于2025-09-09 09:28:46
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Progression of Pro23His Retinopathy in a Miniature Swine Model of Retinitis Pigmentosa
摘要： Purpose: We characterize the progression of retinopathy in Filial 1 (F1) progeny of a transgenic (Tg) founder miniswine exhibiting severe Pro23His (P23H) retinopathy. Methods: The F1 TgP23H miniswine progeny were created by crossing TgP23H founder miniswine 53-1 with wild type (WT) inbred miniature swine. Scotopic (rod-driven) and photopic (cone-driven) retinal functions were evaluated in F1 TgP23H and WT littermates using full field electroretinograms (ffERGs) at 1, 2, 3, 6, 9, 12, and 18 months of age, as well as the Tg founder miniswine at 6 years of age. Miniswine were euthanized and their retinas processed for morphologic evaluation at the light and electron microscopic level. Retinal morphology of a 36-month-old Tg miniswine also was examined. Results: Wild type littermates reached mature scotopic and photopic retinal function by 3 months, while TgP23H miniswine showed abnormal scotopic ffERGs at the earliest time point, 1 month, and depressed photopic ffERGs after 2 months. Rod and cone photoreceptors (PR) exhibited morphologic abnormalities and dropout from the outer nuclear layer at 1 month, with only a monolayer of cone PR somata remaining after 2 months. The retinas showed progressive neural remodeling of the outer retina that included dendritic retraction of rod bipolar cells and glial seal formation by M¨uller cells. The TgP23H founder miniswine showed cone PR with relatively intact morphology exclusive to the area centralis. Conclusions: The F1 Tg miniswine and the TgP23H founder miniswine exhibit similar retinopathy. Translational Relevance: TgP23H miniswine are a useful large-eye model to study pathogenesis and preservation cone PRs in humans with retinitis pigmentosa.
关键词： retinal degeneration,swine,retinitis pigmentosa
更新于2025-09-04 15:30:14
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A Novel Method for Quantitative Serial Autofluorescence Analysis in Retinitis Pigmentosa Using Image Characteristics
摘要： Identifying potential biomarkers for disease progression in retinitis pigmentosa (RP) is highly relevant now that gene therapy and other treatments are in clinical trial. Here we report a novel technique for analysis of short-wavelength autofluorescence (AF) imaging to quantify defined regions of AF in RP patients. Methods: Fifty-five–degree AF images were acquired from 12 participants with RP over a 12-month period. Of these, five were identified as having a hyperfluorescent annulus. A standard Cartesian coordinate system was superimposed on images with the fovea as the origin and eight bisecting lines traversing the center at 45 degrees to each other. Spatial extraction software was programmed to highlight pixels corresponding to varying degrees of percentile fluorescence such that the parafoveal AF ring was mapped. Distance between the fovea and midpoint of the AF ring was measured. Percentage of low luminance areas was utilized as a measure of atrophy. Results: The hyperfluorescent ring was most accurately mapped using the 70th percentile of fluorescence. Both the AF ring and peripheral hypofluorescence showed robust repeatability at all time points noted (P ? 0.93). Conclusions: Both a hypofluorescent ring and retinal pigment epithelium atrophy were present on a significant proportion of RP patients and were consistently mapped over a 12-month period. There is potential extrapolation of this methodology to wide-field imaging as well as other retinal dystrophies. This anatomical change may provide a useful anatomical biomarker for assessing treatment end points in RP. Translational Relevance: Spatial extraction software can be a valuable tool in the assessment of ophthalmic imaging data.
关键词： autofluorescence,retinal degeneration,quantification,retinitis pigmentosa
更新于2025-09-04 15:30:14
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Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease
摘要： G protein-coupled receptors (GPCRs) are crucial sensors of extracellular signals in eukaryotes, with multiple GPCR mutations linked to human diseases. With the growing number of sequenced human genomes, determining the pathogenicity of a mutation is challenging, but can be aided by a direct measurement of GPCR-mediated signaling. This is particularly difficult for the visual pigment rhodopsin, a GPCR activated by light, for which hundreds of mutations have been linked to inherited degenerative retinal diseases such as retinitis pigmentosa (RP). In this study, we successfully engineered, for the first time, activation by human rhodopsin of the yeast mating pathway, resulting in signaling via a fluorescent reporter. We combine this novel assay for rhodopsin light-dependent activation with studies of subcellular localization, and the upregulation of the unfolded protein response (UPR) in response to misfolded rhodopsin protein. We use these assays to characterize a panel of rhodopsin mutations with known molecular phenotypes, finding that rhodopsin maintains a similar molecular phenotype in yeast, with some interesting differences. Furthermore, we compare our assays in yeast with clinical phenotypes from patients with novel disease-linked mutations. We demonstrate that our engineered yeast strain can be useful in rhodopsin mutant classification, and in helping to determine the molecular mechanisms underlying their pathogenicity. This approach may also be applied to better understand the clinical relevance of other human GPCR mutations, furthering the use of yeast as a tool for investigating molecular mechanisms relevant to human disease.
关键词： disease model,G protein-coupled receptor,rhodopsin,Visual degenerative disease,retinitis pigmentosa
更新于2025-09-04 15:30:14
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<i>SCAPER</i> -associated nonsyndromic autosomal recessive retinitis pigmentosa
摘要： Mutations in the gene SCAPER (S-phase CyclinA Associated Protein residing in the Endoplasmic Reticulum) have recently been identified as causing syndromic autosomal recessive retinitis pigmentosa with the extraocular manifestations of intellectual disability and attention-deficit/hyperactivity disorder. We present the case of an 11-year-old boy that presented to our clinic with the complaint of decreased night vision. Clinical presentation, family history, and diagnostic imaging were congruent with the diagnosis of autosomal recessive retinitis pigmentosa. Genetic testing of the patient and both parents via whole-exome sequencing revealed the homozygous mutation c.2023-2A>G in SCAPER. Unique to our patient's presentation is the absence of intellectual disability and attention-deficit/hyperactivity disorder, suggesting that SCAPER-associated retinitis pigmentosa can also present without systemic manifestations.
关键词： syndromic disorder,autosomal recessive,SCAPER,retinitis pigmentosa
更新于2025-09-04 15:30:14
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A Comparison of Progressive Loss of the Ellipsoid Zone (EZ) Band in Autosomal Dominant and X-Linked Retinitis Pigmentosa
摘要： PURPOSE. In patients with retinitis pigmentosa (RP), the inner segment ellipsoid zone (EZ; also known as the inner segment/outer segment [IS/OS] border) is a marker of the usable visual ?eld at a given point in time and of the progression of the disease over time. Here we compare the change in the width per year of the EZ band in patients with autosomal dominant (ad) and x-linked (xl) RP. METHODS. Using optical coherence tomography (OCT), 9-mm horizontal and vertical line scans through the fovea were obtained for one eye of 26 xlRP patients and 33 adRP patients. Scans were repeated on average 2.0 years later (range, 0.6–4.8 years). Using a manual segmentation procedure, the EZ band was delineated and its horizontal width (HW) and vertical width (VW) were determined. RESULTS. The adRP and xlRP patients had similar initial EZ HW (xlRP: 11.8 6 5.48, adRP: 12.4 6 6.38, P ? 0.69) and VW (xlRP: 8.5 6 4.98, adRP: 11.4 6 7.18, P ? 0.09). However, between visits the absolute loss and percent loss of the EZ width per year was signi?cantly greater for xlRP than adRP for both HW (xlRP: 1.0 6 0.68/y, 9.6 6 5.6%/y; adRP: 0.4 6 0.58/y, 3.4 6 5.4%/y; P < 0.001) and VW (xlRP: 0.8 6 0.88/y, 9.2 6 8.9%/y; adRP: 0.3 6 0.58/y, 4.2 6 6.4%/y; P < 0.01). There was a weak correlation between the loss of EZ width per year and the initial width for xlRP (r2 ? 0.17, P ? 0.036), but no correlation for adRP (r2 ? 0.004, P ? 0.73). The test–retest difference of EZ HW was 0.2 6 0.58. CONCLUSIONS. The OCT data here support a faster rate of loss per year in the case of xlRP. (ClinicalTrials.gov number, NCT00100230.)
关键词： optical coherence tomography,retinitis pigmentosa,progression
更新于2025-09-04 15:30:14
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ADVERSE EVENTS OF THE ARGUS II RETINAL PROSTHESIS
摘要： To analyze and provide an overview of the incidence, management, and prevention of conjunctival erosion in Argus II clinical trial subjects and postapproval patients. This retrospective analysis followed the results of 274 patients treated with the Argus II Retinal Prosthesis System between June 2007 and November 2017, including 30 subjects from the US and European clinical trials, and 244 patients in the postapproval phase. Results were gathered for incidence of a serious adverse event, incidence of conjunctival erosion, occurrence sites, rates of erosion, and erosion timing. Overall, 60% of subjects in the clinical trial subjects versus 83% of patients in the postapproval phase did not experience device- or surgery-related serious adverse events. In the postapproval phase, conjunctival erosion had an incidence rate of 6.2% over 5 years and 11 months. In 55% of conjunctival erosion cases, erosion occurred in the inferotemporal quadrant, 25% in the superotemporal quadrant, and 20% in both. Sixty percent of the erosion events occurred in the first 15 months after implantation, and 85% within the first 2.5 years. Reducing occurrence of conjunctival erosion in patients with the Argus II Retinal Prosthesis requires identification and minimization of risk factors before and during implantation. Implementing inverted sutures at the implant tabs, use of graft material at these locations as well as Mersilene rather than nylon sutures, and accurate Tenon’s and conjunctiva closure are recommended for consideration in all patients.
关键词： conjunctival erosion,retinitis pigmentosa,retinal prosthesis,Argus II,epiretinal implant
更新于2025-09-04 15:30:14
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Müller Cell Regulated Microglial Activation and Migration in Rats With N-Methyl-N-Nitrosourea-Induced Retinal Degeneration
摘要： During the pathogenesis of retinitis pigmentosa (RP), the roles of retinal microglial cells after activation have not been fully elucidated. Herein, experimental RP was induced in Sprague Dawley rats by intraperitoneal injection of N-methyl-N-nitrosourea (MNU) at 50 mg/kg, and the effects of MNU on the retinas were evaluated, respectively, by retinal histology and electroretinography recordings at serial time points. Time-dependent and gradual loss of photoreceptor cells, disrupted arrangement of the outer nuclear layer (ONL), and significant reductions in both a-wave and b-wave amplitudes were observed. Morphology changes were observed in retinal microglial cells; meanwhile, with time, the number of Iba1-positive microglia and their infiltration into the ONL gradually increased. Furthermore, physical interaction of microglial-Müller cell processes following microglial activation was observed after MNU injection. In addition, Müller cells increased CX3CL1 secretion, enhanced microglial cell migration, and upregulated the CX3CR1 expression of the latter. Our observations implied that, during the pathogenesis of RP by MNU, microglial cells exhibit a prominent morphology change and Müller cells can induce activated microglia infiltration by increasing secretion of the chemotaxis factor, CX3CL1, and promoting the migration of retinal microglial cells. This novel finding highlights a potential therapeutic target aimed at regulating the microglial response.
关键词： N-methyl-N-nitrosourea,microglia,retinitis pigmentosa,Müller cells,crosstalk
更新于2025-09-04 15:30:14
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Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa
摘要： Retinitis pigmentosa (RP) is a severe hereditary retinal disorder characterized by progressive degeneration of rod and cone photoreceptors. This study identified a novel frameshift mutation, c.385delC, p.(L129WfsTer148), in the cyclic nucleotide-gated channel beta 1 (CNGB1) gene of a consanguineous Han Chinese family with autosomal recessive RP (arRP). This expands the spectrum of CNGB1 gene variants in RP cases and possibly refines future genetic counseling.
关键词： CNGB1 gene,genetic counseling,Retinitis pigmentosa,frameshift mutation
更新于2025-09-04 15:30:14