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PURPOSE: We describe three different approaches for lens management in cases of metallic IOFBs involving the posterior segment. METHODS: All consecutive posterior segment metallic IOFB cases from 2012 to 2023 at a single institution were included in this retrospective case series. Surgical outcomes and surgical videos are presented. RESULTS: A total of 25 metallic IOFB cases were included. In 9 cases, there was no significant lens involvement, therefore not requiring lens extraction at the time of IOFB removal. In 8 cases with traumatic cataract, lens extraction sparing the anterior lens capsule was performed with IOFB removal. In 8 cases, both lens extraction and lens capsule removal were required at the time of IOFB removal. CONCLUSION: We demonstrate our algorithm to capsular management in patients who present with IOFB with good visual outcomes in follow-up.
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This retrospective study examines the clinical characteristics and underlying genetic variants that exist in a Leber congenital amaurosis (LCA) patient cohort evaluated at the inherited retinal disease (IRD) clinic at the University of Minnesota (UMN)/M Health System. Our LCA cohort consisted of 33 non-syndromic patients and one patient with Joubert syndrome. We report their relevant history, clinical findings, and genetic testing results. We monitored disease presentation utilizing ocular coherence tomography (OCT) and fundus autofluorescence (FAF). Electroretinogram testing (ERG) was performed in patients when clinically indicated. Next-generation sequencing (NGS) and genetic counseling was offered to all evaluated patients. Advanced photoreceptor loss was noted in 85.7% of the subjects. All patients who underwent FAF had findings of either a ring of macular hypo/hyper AF or peripheral hypo-AF. All patients had abnormal ERG findings. A diagnostic genetic test result was identified in 74.2% of the patients via NGS single-gene testing or panel testing. Two patients in our cohort qualified for Luxturna® and both received treatment at the time of this study. These data will help IRD specialists to understand the genetic variants and clinical presentations that characterize our patient population in the Midwest region of the United States.
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Amaurosis Congénita de Leber , Humanos , Amaurosis Congénita de Leber/genética , Amaurosis Congénita de Leber/terapia , Estudios Retrospectivos , Mutación , Retina/patología , Terapia Genética , LinajeRESUMEN
In this review, we outline our current understanding of the mechanisms involved in the absorption, storage, and transport of dietary vitamin A to the eye, and the trafficking of rhodopsin protein to the photoreceptor outer segments, which encompasses the logistical backbone required for photoreceptor cell function. Two key mechanisms of this process are emphasized in this manuscript: ocular and systemic vitamin A membrane transporters, and rhodopsin transporters. Understanding the complementary mechanisms responsible for the generation and proper transport of the retinylidene protein to the photoreceptor outer segment will eventually shed light on the importance of genes encoded by these proteins, and their relationship on normal visual function and in the pathophysiology of retinal degenerative diseases.
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Rodopsina , Vitamina A , Rodopsina/metabolismo , Rodopsina/genética , Humanos , Vitamina A/metabolismo , Animales , Células Fotorreceptoras de Vertebrados/metabolismo , Células Fotorreceptoras/metabolismo , Transporte BiológicoRESUMEN
PURPOSE: To compare patients with acute endophthalmitis after intravitreal injection of vascular endothelial growth factor (VEGF) inhibitors vs. steroids. METHODS: Retrospective single-center, nonrandomized interventional study from 2013 to 2021.Patients underwent vitreous biopsy before initiating treatment and were divided into the following cohorts: (1) anti-VEGF managed medically (T&I-anti-VEGF), (2) anti-VEGF managed by immediate pars plana vitrectomy (PPV-anti-VEGF), and (3) steroid therapy and managed medically or by pars plana vitrectomy (steroid). RESULTS: A total of 141 patients were analyzed. The steroid cohort demonstrated significantly worse presenting (median = 2.80 logarithm of the minimum angle of resolution [logMAR]; P ≤ 0.01) and final (median = 2.30 logMAR) best-corrected visual acuity compared with T&I-anti-VEGF (presenting: median = 2.00 logMAR; final: median = 0.40 logMAR) and pars plana vitrectomy-anti-VEGF cohorts (presenting: median = 2.30 logMAR; final: median = 0.48 logMAR). There was no significant ( P = 0.33) difference in the final best-corrected visual acuity between T&I-anti-VEGF and pars plana vitrectomy-anti-VEGF cohorts. There were no significant ( P ≥ 0.63) differences among cohorts in best-corrected visual acuity before acute endophthalmitis diagnosis (T&I-anti-VEGF: median = 0.40 logMAR; pars plana vitrectomy-anti-VEGF: median = 0.40 logMAR; steroid: median = 0.44 logMAR). Microbial cultures revealed similar profiles for all cohorts. CONCLUSION: Acute endophthalmitis after intravitreal injection steroid therapy had worse outcomes compared with anti-VEGF therapy.
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Endoftalmitis , Factor A de Crecimiento Endotelial Vascular , Humanos , Estudios Retrospectivos , Endoftalmitis/tratamiento farmacológico , Endoftalmitis/etiología , Vitrectomía , Factores de Crecimiento Endotelial Vascular , Esteroides/uso terapéutico , Inyecciones IntravítreasRESUMEN
Rods and cones are photoreceptor neurons in the retina that are required for visual sensation in vertebrates, where proper protein localization and compartmentalization are critical for phototransduction and visual function. In human retinal diseases, improper protein transport to the outer segment (OS) or mislocalization of proteins to the inner segment (IS) could lead to impaired visual responses and photoreceptor cell degeneration, causing a loss of visual function. We showed involvement of an unconventional motor protein, MYO1C, in the proper localization of rhodopsin to the OS, where loss of MYO1C in a mammalian model caused mislocalization of rhodopsin to IS and cell bodies, leading to progressively severe retinal phenotypes. In this study, using modeling and docking analysis, we aimed to identify the protein-protein interaction sites between MYO1C and Rhodopsin to establish a hypothesis that a physical interaction between these proteins is necessary for the proper trafficking of rhodopsin and visual function.
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Retina , Rodopsina , Animales , Humanos , Rodopsina/genética , Rodopsina/metabolismo , Retina/metabolismo , Células Fotorreceptoras Retinianas Bastones/metabolismo , Células Fotorreceptoras Retinianas Conos/metabolismo , Transporte de Proteínas/fisiología , Mamíferos/metabolismo , Miosina Tipo I/metabolismoRESUMEN
This retrospective study identifies patients with RP at the Inherited Retinal Disease Clinic at the University of Minnesota (UMN)/M Health System who had genetic testing via next generation sequencing. A database was curated to record history and examination, genetic findings, and ocular imaging. Causative pathogenic and likely pathogenic variants were recorded. Disease status was further characterized by ocular coherence tomography (OCT) and fundus autofluorescence (AF). Our study cohort included a total of 199 patients evaluated between 1 May 2015-5 August 2022. The cohort included 151 patients with non-syndromic RP and 48 with syndromic RP. Presenting symptoms included nyctalopia (85.4%) photosensitivity/hemeralopia (60.5%), and decreased color vision (55.8%). On average, 38.9% had visual acuity of worse than 20/80. Ellipsoid zone band width on OCT scan of less than 1500 µm was noted in 73.6%. Ninety-nine percent had fundus autofluorescence (AF) findings of a hypo- or hyper-fluorescent ring within the macula and/or peripheral hypo-AF. Of the 127 subjects who underwent genetic testing, a diagnostic pathogenic and/or likely pathogenic variant was identified in 67 (52.8%) patients-33.3% of syndromic RP and 66.6% of non-syndromic RP patients had a diagnostic gene variant identified. It was found that 23.6% of the cohort had negative genetic testing results or only variants of uncertain significance identified, which were deemed as non-diagnostic. We concluded that patients with RP often present with advanced disease. In our population, next generation sequencing panels identified a genotype consistent with the exam in just over half the patients. Additional work will be needed to identify the underlying genetic etiology for the remainder.
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Secuenciación de Nucleótidos de Alto Rendimiento , Retinitis Pigmentosa , Humanos , Estudios Retrospectivos , Retinitis Pigmentosa/diagnóstico por imagen , Retinitis Pigmentosa/genética , Retina/diagnóstico por imagen , Retina/patología , Tomografía de Coherencia Óptica , Imagen Multimodal , MutaciónRESUMEN
Age-related macular degeneration (AMD) is the leading cause of blindness in elderly people, with limited treatment options available for most patients. AMD involves the death of retinal pigment epithelium (RPE) and photoreceptor cells, with mitochondria dysfunction being a critical early event. In the current study, we utilized our unique resource of human donor RPE graded for AMD presence and severity to investigate proteome-wide dysregulation involved in early AMD. Organelle-enriched fractions of RPE were isolated from donors with early AMD (n = 45) and healthy age-matched controls (n = 32) and were analyzed by UHR-IonStar, an integrated proteomics platform enabling reliable and in-depth proteomic quantification in large cohorts. A total of 5941 proteins were quantified with excellent analytical reproducibility, and with further informatics analysis, many biological functions and pathways were found to be significantly dysregulated in donor RPE samples with early AMD. Several of these directly pinpointed changes in mitochondrial functions, e.g., translation, ATP metabolic process, lipid homeostasis, and oxidative stress. These novel findings highlighted the value of our proteomics investigation by allowing a better understanding of the molecular mechanisms underlying early AMD onset and facilitating both treatment development and biomarker discovery.
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Degeneración Macular , Epitelio Pigmentado de la Retina , Humanos , Anciano , Epitelio Pigmentado de la Retina/metabolismo , Proteómica , Reproducibilidad de los Resultados , Degeneración Macular/metabolismo , Estrés OxidativoRESUMEN
PURPOSE: To analyze and provide an overview of the incidence, management, and prevention of conjunctival erosion in Argus II clinical trial subjects and postapproval patients. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
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Conjuntiva/cirugía , Enfermedades de la Conjuntiva/etiología , Complicaciones Posoperatorias/etiología , Implantación de Prótesis/efectos adversos , Retinitis Pigmentosa/cirugía , Prótesis Visuales/efectos adversos , Enfermedades de la Conjuntiva/epidemiología , Enfermedades de la Conjuntiva/prevención & control , Europa (Continente)/epidemiología , Femenino , Humanos , Incidencia , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/prevención & control , Implantación de Prótesis/métodos , Estudios Retrospectivos , Estados Unidos/epidemiologíaRESUMEN
The blood retinal barrier (BRB) closely regulates the retinal microenvironment. Its compromise leads to the accumulation of retinal fluid containing potentially harmful plasma components. While eyes with non-exudative age-related macular degeneration (AMD) were previously felt to have an intact BRB, we propose that the BRB in non-exudative AMD eyes may be subclinically compromised, allowing entry of retina-toxic plasma proteins. We test this hypothesis by measuring retinal levels of abundant plasma proteins that should not cross the intact BRB. Two cohorts of frozen, post mortem neurosensory retinas were studied by Western analysis. One cohort from Alabama had 4 normal controls and 4 eyes with various forms of AMD. Another cohort from Minnesota had 5 intermediate AMD eyes and 5 normals. Both cohorts were age/post mortem interval (PMI) matched. The non-exudative AMD retinas in the Alabama cohort had significantly higher levels of albumin and complement component 9 (C9) than normal controls. The positive control exudative AMD donor retina had higher levels of all but one serum protein. In both macular and peripheral neurosensory retina samples, intermediate AMD retinas in the Minnesota cohort had significantly higher levels of albumin, fibrinogen, IgG, and C9 than controls. Our results suggest that there may be moderate subclinical BRB leakage in non-exudative AMD. Potentially harmful plasma components including complement or iron could enter the neurosensory retina in AMD patients prior to advanced disease. Thus, therapies aiming to stabilize the BRB might have a role in the management of non-exudative AMD.
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Proteínas Sanguíneas/metabolismo , Atrofia Geográfica/sangre , Retina/metabolismo , Anciano , Anciano de 80 o más Años , Barrera Hematorretinal/fisiología , Western Blotting , Complemento C9/metabolismo , Exudados y Transudados , Femenino , Fibrinógeno/metabolismo , Humanos , Inmunoglobulina G/metabolismo , Masculino , Albúmina Sérica/metabolismoRESUMEN
Increased fundus autofluorescence is directly related to increased RPE lipofuscin deposition in the retina and has been observed in eyes with age-related macular degeneration (AMD). Smoking is the most significant modifiable risk factor for the development and progression of AMD, in which one of the main mechanisms is oxidative damage from smoking leading to RPE cell toxicity. The relationship between smoking and autofluorescence is not established and could provide insight into pathogenic mechanism of AMD. Therefore, our objective was to compare quantitative fundus autofluorescence (qAF) in the retinae of healthy non-smokers to smokers. We conducted a cross-sectional study at the 2016 Minnesota State Fair. Participants self-reported past medical and ocular history and underwent eye examination as well as qAF imaging with Spectralis confocal scanning laser ophthalmoscope (cSLO) equipped with an internal fluorescent reference. Two sets of images were obtained per eye. Stepwise multiple mixed effects regression model was used to examine the relationship between mean qAF values and smoking status. We enrolled 105 individuals (54 smokers, 61 females, mean age 41 years with range 18-78 years old). Fundus autofluorescence images were analyzable for 85 of 105 individuals contributing 161 eyes (80 right, 81 left). The repeatability coefficients between the first set and second set of images were ±21% of their mean qAF values. Older age and female gender were independently associated with higher qAF. Positive smoking history tended to result in higher qAF values after adjusting for age and gender but was not statistically significant (0.118, 95%CI -0.003, 0.240, Pâ¯=â¯0.056). Among smokers, the number of pack-years smoked was not significantly associated with higher qAF. Our study's results are consistent with existing literature in which older age is predictive of intensified autofluorescence, while smoking history does not have as important of an impact on autofluorescence as hypothesized. Several large epidemiological studies have shown that smoking is significantly associated with AMD, and qAF is likely not the appropriate modality to clinically assess smoking's impact on retinae.
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Lipofuscina/metabolismo , Degeneración Macular/metabolismo , No Fumadores , Imagen Óptica , Epitelio Pigmentado de la Retina/metabolismo , Fumadores , Adolescente , Adulto , Anciano , Estudios Transversales , Femenino , Angiografía con Fluoresceína/métodos , Fondo de Ojo , Humanos , Masculino , Persona de Mediana Edad , Oftalmoscopía/métodos , Adulto JovenRESUMEN
Age-related macular degeneration (AMD) is a complex and progressive degenerative eye disease resulting in severe loss of central vision. Recent evidence indicates that immune system dysregulation could contribute to the development of AMD. We hypothesize that defective lysosome-mediated clearance causes accumulation of waste products in the retinal pigmented epithelium (RPE), activating the immune system and leading to retinal tissue injury and AMD. We have generated unique genetically engineered mice in which lysosome-mediated clearance (both by phagocytosis and autophagy) in RPE cells is compromised, causing the development of features of early AMD. Our recent data indicate a link between lipocalin-2 (LCN-2) and the inflammatory responses induced in this mouse model. We show that nuclear factor-κB (NF-κB) and STAT-1 may function as a complex in our animal model system, together controlling the upregulation of LCN-2 expression in the retina and stimulating an inflammatory response. This study revealed increased infiltration of LCN-2-positive neutrophils in the choroid and retina of early AMD patients as compared with age-matched controls. Our results demonstrate that, both in our animal model and in human AMD, the AKT2-NF-κB-LCN-2 signalling axis is involved in activating the inflammatory response, making this pathway a potential target for AMD treatment. Copyright © 2016 Pathological Society of Great Britain and Ireland. Published by John Wiley & Sons, Ltd.
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Lipocalina 2/genética , Lisosomas/inmunología , Degeneración Macular/genética , FN-kappa B/genética , Proteínas Proto-Oncogénicas c-akt/genética , Transducción de Señal , Factores de Edad , Animales , Autofagia , Coroides/inmunología , Coroides/metabolismo , Modelos Animales de Enfermedad , Humanos , Inflamación , Lipocalina 2/metabolismo , Lisosomas/metabolismo , Degeneración Macular/inmunología , Degeneración Macular/patología , Ratones , FN-kappa B/metabolismo , Neutrófilos/inmunología , Fagocitosis , Proteínas Proto-Oncogénicas c-akt/metabolismo , Retina/inmunología , Retina/lesiones , Retina/metabolismo , Epitelio Pigmentado de la Retina/inmunología , Epitelio Pigmentado de la Retina/metabolismo , Regulación hacia ArribaRESUMEN
BACKGROUND: Knobloch Syndrome (KS) is a rare congenital syndrome characterized by occipital skull defects and vitreoretinal degeneration. Retinal detachment (RD) often occurs at the end of the first decade of life or later. Aside from occipital skull defects, central nervous system abnormalities are uncommon. CASE PRESENTATIONS: We report on two siblings with KS. The first, a seven month old male, presented with nystagmus and was found to have a serous RD and a tessellated retinal appearance. His sister had a history of multiple visual abnormalities and had a similar retinal appearance although no signs of RD, but retina staphylomas. Genetic testing performed on both siblings showed a mutation in COL18A1, diagnostic of KS. MRI of both siblings demonstrated polymicrogyria but did not show occipital defects. CONCLUSIONS: Although several families with KS have been described previously, our case is noteworthy for several reasons. The RD observed in our first patient occurred at an early age, and we find evidence of only one patient with KS who had an RD identified at an earlier age. The findings of polymicrogyria are not characteristic of KS, and we found only a few previous reports of this association. Additionally, we review potential treatment options for this condition.
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Encefalocele/complicaciones , Polimicrogiria/etiología , Desprendimiento de Retina/congénito , Desprendimiento de Retina/etiología , Adolescente , Anisometropía/etiología , Femenino , Humanos , Lactante , Masculino , Miopía Degenerativa/etiología , Degeneración Retiniana , Desprendimiento de Retina/complicacionesRESUMEN
Age-related macular degeneration (AMD) is the leading cause of blindness among older adults in the developed world. Although the pathological mechanisms have not been definitively elucidated, evidence suggests a key role for mitochondrial (mt) dysfunction. The current study used our unique collection of human retinal samples graded for the donor's stage of AMD to address fundamental questions about mtDNA damage in the retina. To evaluate the distribution of mtDNA damage in the diseased retina, damage in the retinal pigment epithelium (RPE) and neural retina from individual donors were compared. To directly test a long-held belief that the macula is selectively damaged with AMD, RPE mtDNA damage was measured in the macula and peripheral sections from individual donors. Small segments of the entire mt genome were examined to determine whether specific regions are preferentially damaged. Our results show that mtDNA damage is limited to the RPE, equivalent mtDNA damage is found in the macular and peripheral RPE, and sites of damage are localized to regions of the mt genome that may impact mt function. These results provide a scientific basis for targeting the RPE mitochondria with therapies that protect and enhance mt function as a strategy for combating AMD.
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Envejecimiento/metabolismo , Sistemas de Liberación de Medicamentos , Marcación de Gen , Degeneración Macular/metabolismo , Mitocondrias/metabolismo , Epitelio Pigmentado de la Retina/metabolismo , Anciano , Anciano de 80 o más Años , Envejecimiento/patología , ADN Mitocondrial/metabolismo , Sistemas de Liberación de Medicamentos/tendencias , Femenino , Marcación de Gen/tendencias , Humanos , Degeneración Macular/patología , Masculino , Persona de Mediana Edad , Mitocondrias/patología , Epitelio Pigmentado de la Retina/patologíaRESUMEN
Age-related macular degeneration (AMD) is a major cause of blindness among the elderly in the developed world. Genetic analysis of AMD has identified 34 high-risk loci associated with AMD. The genes at these high risk loci belong to diverse biological pathways, suggesting different mechanisms leading to AMD pathogenesis. Thus, therapies targeting a single pathway for all AMD patients will likely not be universally effective. Recent evidence suggests defects in mitochondria (mt) of the retinal pigment epithelium (RPE) may constitute a key pathogenic event in some AMD patients. The purpose of this study is to determine if individuals with a specific genetic background have a greater propensity for mtDNA damage. We used human eyebank tissues from 76 donors with AMD and 42 age-matched controls to determine the extent of mtDNA damage in the RPE that was harvested from the macula using a long extension polymerase chain reaction assay. Genotype analyses were performed for ten common AMD-associated nuclear risk alleles (ARMS2, TNFRSF10A, CFH, C2, C3, APOE, CETP, LIPC, VEGF and COL10A1) and mtDNA haplogroups. Sufficient samples were available for genotype association with mtDNA damage for TNFRSF10A, CFH, CETP, VEGFA, and COL10A1. Our results show that AMD donors carrying the high risk allele for CFH (C) had significantly more mtDNA damage compared with donors having the wild-type genetic profile. The data from an additional 39 donors (12 controls and 27 AMD) genotyped for CFH alleles further supported these findings. Taken together, these studies provide the rationale for a more personalized approach for treating AMD by uncovering a significant correlation between the CFH high risk allele and accelerated mtDNA damage. Patients harboring this genetic risk factor may benefit from therapies that stabilize and protect the mt in the RPE.
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Factor H de Complemento/genética , Daño del ADN/fisiología , ADN Mitocondrial , Degeneración Macular/genética , Epitelio Pigmentado de la Retina , Anciano , Anciano de 80 o más Años , Alelos , Estudios de Casos y Controles , Femenino , Predisposición Genética a la Enfermedad , Genotipo , Humanos , Degeneración Macular/metabolismo , Degeneración Macular/fisiopatología , Masculino , Persona de Mediana Edad , Reacción en Cadena de la PolimerasaRESUMEN
BACKGROUND: Post-operative endophthalmitis is a serious complication of intraocular surgery which may present acutely or chronically. Chronic post-operative endophthalmitis is characterized by decreased visual acuity, mild pain, and low-grade uveitis several weeks or months after intraocular surgery which may be responsive to corticosteroids, but recur upon tapering. Low virulence organisms such as Propionibacterium acnes are the most common culprit organisms, and treatment most often consists of both intravitreal antibiotic injections and surgery. Aniridia is a condition defined by total or partial loss of the iris and leads to decreased visual quality marked by glare and photophobia. Treatment of complex or severe cases of traumatic aniridia in which surgical repair is difficult may consist of implantation of iris prostheses, devices designed to reduce symptoms of aniridia. Though chronic, post-operative endophthalmitis has been associated with most intraocular surgeries including intraocular lens implantation after cataract removal, it has never been described in a patient with an iris prosthesis. CASE PRESENTATION: In this case report, we describe the case of a 49 year old, male construction worker with traumatic aniridia who experienced chronic, recurrent low-grade intraocular inflammation and irritation for months after implantation of the Ophtec 311 prosthetic iris. Symptoms and signs of inflammation improved temporarily with sub-Tenon's capsule triamcinolone injections. Ultimately after more than 2 post-operative years, the iris prosthesis was explanted, and intravitreal cultures showed P. acnes growth after 5 days. Intravitreal antibiotics treated the infection successfully. CONCLUSIONS: To our knowledge, this is the first reported case of chronic, post-operative endophthalmitis in a patient with an iris prosthesis. Chronic, post-operative endophthalmitis may be a difficult to identify in the context of traumatic aniridia and iris prosthesis implantation due to other potential etiologies of chronic intraocular inflammation such as implant-induced chafing. Clinicians should suspect chronic, post-operative endophthalmitis in any case of recurrent, low-grade intraocular inflammation.
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Aniridia , Endoftalmitis/etiología , Infecciones por Bacterias Grampositivas/etiología , Implantación de Prótesis/efectos adversos , Aniridia/etiología , Aniridia/cirugía , Remoción de Dispositivos , Lesiones Oculares/cirugía , Humanos , Iris/cirugía , Masculino , Persona de Mediana Edad , Complicaciones Posoperatorias/microbiología , Propionibacterium acnes/aislamiento & purificaciónRESUMEN
CASE SUMMARY: The patient is a 42-year-old female who presented with a de novo missense variant in the PRPS1 gene. Her phenotype includes asymmetric retinal dystrophy with sensory esotropia, congenital sensorineural hearing loss, neuropathy, and severe tremors with recent-onset ataxia. This contributes a new presentation of ophthalmic and neurological findings to the literature.
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OBJECTIVE: To quantitatively evaluate visual evoked potentials (VEPs) in prosthetic vision and simulated visual reduction. METHODS AND ANALYSIS: Four blind patients implanted with the Argus II retinal prosthesis and seven sighted controls participated. VEPs were recorded with pattern-reversal stimuli (2 cycles of a horizontal square wave grating, 0.1 cycle/degree) at 1.07 reversals per second (rps) for Argus II subjects and 3.37 rps for controls. Argus II patients had both eyes patched, viewing the pattern solely through their implant. Controls viewed the pattern monocularly, either with their best-corrected vision or with simulated visual reduction (field restriction, added blur or reduced display contrast). RESULTS: VEPs recorded in Argus II patients displayed a similar shape to normal VEPs when controls viewed the pattern without simulated visual reduction. In sighted controls, adding blur significantly delayed the P100 peak time by 8.7 ms, 95% CI (0.9, 16.6). Reducing stimulus contrast to 32% and 6% of full display contrast significantly decreased P100 amplitude to 55% (37%, 82%) and 20% (13%, 31%), respectively. Restriction on the field of view had no impact on either the amplitude or the peak latency of P100. CONCLUSION: The early visual cortex in retinal prosthesis users remains responsive to retinal input, showing a similar response profile to that of sighted controls. Pattern-reversal VEP offers valuable insights for objectively evaluating artificial vision therapy systems (AVTSs) when selecting, fitting and training implant users, but the uncertainties in the exact timing and location of electrode stimulation must be considered when interpreting the results.
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Ceguera , Potenciales Evocados Visuales , Prótesis Visuales , Humanos , Potenciales Evocados Visuales/fisiología , Masculino , Femenino , Ceguera/fisiopatología , Persona de Mediana Edad , Anciano , Agudeza Visual/fisiología , AdultoRESUMEN
Background: The path of rehabilitation of an eye after open globe injury (OGI) may require multiple additional secondary surgeries after the initial repair. Although much has been studied regarding the outcomes of secondary surgeries after open globe repair, it can be challenging to understand the possible implications of the surgical rehabilitative process. This retrospective study considers the benefits of the required additional secondary surgeries for a consecutive series of OGI patients. Methods: OGI patients who had at least one additional surgery after the initial open globe repair (OGR) were studied retrospectively. Additional inclusion criteria included: follow up of at least 12 months since the initial injury and at least 3 months since their most recent surgery, and no additional planned interventions. Preoperative visual acuity was compared to final visual acuity. Additionally, the odds of achieving ambulatory vision (≥20/800) and reading vision (≥20/40) were calculated after each indicated consecutive surgery. Results: A cohort of 74 eyes from 73 patients met our inclusion criteria. These patients underwent a mean of two additional surgeries. The mean logMAR VA improved from 2.3 (HM) at presentation to 1.4 (20/150), or a 9-line Snellen equivalent improvement. Upon reaching their final visit status, 50% of patients had achieved ambulatory vision and 30% of patients had achieved reading vision. The odds of achieving ambulatory vision after completion of all the rehabilitative surgical process compared to the vision prior to the secondary rehabilitative surgery were higher (OR: 19.1, 95% CI: 7.9 - 30.4, p = 0.0008) as were the odds of achieving reading vision (OR: 4.6, 95% CI: 0.2 - 9.0, p = 0.04). With subsequent second, third, and fourth additional surgeries, the odds of achieving either ambulatory or reading vision at the final visit compared to their preoperative visual acuities were not significant (p > 0.05) but the visual acuity continued to trend toward visual improvement. Conclusion: Approximately 50% of individuals who required additional surgery at UMN achieved ambulatory vision and 30% achieved reading vision. The odds of visual improvement through the surgical rehabilitative process were very high, with the greatest gains generally achieved after the first surgery.
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DNA methylation provides a crucial epigenetic mark linking genetic variations to environmental influence. We have analyzed array-based DNA methylation profiles of 160 human retinas with co-measured RNA-seq and >8 million genetic variants, uncovering sites of genetic regulation in cis (37,453 methylation quantitative trait loci and 12,505 expression quantitative trait loci) and 13,747 DNA methylation loci affecting gene expression, with over one-third specific to the retina. Methylation and expression quantitative trait loci show non-random distribution and enrichment of biological processes related to synapse, mitochondria, and catabolism. Summary data-based Mendelian randomization and colocalization analyses identify 87 target genes where methylation and gene-expression changes likely mediate the genotype effect on age-related macular degeneration. Integrated pathway analysis reveals epigenetic regulation of immune response and metabolism including the glutathione pathway and glycolysis. Our study thus defines key roles of genetic variations driving methylation changes, prioritizes epigenetic control of gene expression, and suggests frameworks for regulation of macular degeneration pathology by genotype-environment interaction in retina.
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Metilación de ADN , Degeneración Macular , Humanos , Metilación de ADN/genética , Epigénesis Genética , Epigenoma , Degeneración Macular/genética , RetinaRESUMEN
PURPOSE: To highlight a case of chorioretinitis sclopetaria, with concomitant macular hole formation and orbital emphysema, caused by a commercial-grade pressure washer. METHODS: This is a retrospective case report. RESULTS: A 19-year-old man presented to the emergency department with a left eye injury, incurred after being sprayed with a commercial-grade pressure washer. He endorsed ipsilateral blurred vision, pain, and linear floaters. Left eye visual acuity was 20/40. Dilated fundus examination showed inferior vitreous hemorrhage, retinal whitening, and preretinal, intraretinal, and subretinal hemorrhages, consistent with chorioretinitis sclopetaria. Optical coherence tomography revealed a full-thickness macular hole. Computed tomography scan of the orbits showed subcutaneous and postseptal orbital emphysema. Two months after injury, vitreous and retinal hemorrhages and macular hole resolved. Five months after injury, visual acuity improved to 20/20. CONCLUSION: Chorioretinitis sclopetaria is defined as a full-thickness chorioretinal disruption resulting from a high-velocity projectile passing adjacent to or into the orbit without penetrating the globe. Chorioretinal deformation and ocular comorbidities are influenced by the velocity of the missile and its spatial relationship to the orbit. Although this pattern of injury is typically associated with indirect trauma to the globe by a BB or a bullet, this is the first report of chorioretinitis sclopetaria precipitated by a high-velocity liquid missile.