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PURPOSE: Corneal scars after infectious keratitis lead to insufficient transparency and irregular astigmatism, affecting visual acuity; therefore, they should be accurately evaluated to estimate visual function. This study aimed to quantitatively evaluate corneal irregularity and scarring after infectious keratitis using anterior segment optical coherence tomography (AS-OCT). METHODS: This was an observational clinical study. We included patients who had corneal scarring after treatment of infectious keratitis between 2014 and 2021 at University of Tokyo Hospital. We retrospectively examined best spectacle-corrected visual acuity (BSCVA), average keratometric power, central corneal thickness (CCT), and four components of the Fourier harmonic analysis including spherical and asymmetry components, as well as regular astigmatism and higher-order irregularity. We included anterior and posterior corneal data and compared results with those of contralateral healthy eyes. Additionally, we quantitatively evaluated the densitometry of the cornea obtained using AS-OCT. RESULTS: A total of 122 eyes of 61 patients were examined; male predominance was observed (n = 37), and the mean patient age was 55.3 ± 19.4 years. Comparisons with contralateral healthy eyes showed that BSCVA worsened (0.30 ± 0.83 and 0.93 ± 1.36 logMAR, respectively, P = 0.003), and CCT (531.1 ± 46.2 and 591.8 ± 132.4 µm, respectively, P < 0.001) and corneal densitometry (84.4 ± 11.8 and 111.9 ± 19.2 grayscale units, respectively, P < 0.001) increased significantly in affected eyes. The asymmetry component and higher-order irregularities that were not corrected with spectacles significantly increased (both P < 0.001), and there were no significant differences in the changes among the bacterial, fungal, herpetic, and acanthamoeba types of keratitis. CONCLUSION: Corneal scarring persisted after treatment for infectious keratitis, and the asymmetry and irregularities of corneal astigmatism increased as visual acuity deteriorated. AS-OCT with the Fourier harmonic analysis was useful for evaluating corneal topographic changes in patients with corneal scarring after keratitis.
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Astigmatismo , Lesiones de la Cornea , Queratitis , Humanos , Masculino , Adulto , Persona de Mediana Edad , Anciano , Femenino , Tomografía de Coherencia Óptica/métodos , Cicatriz/patología , Astigmatismo/patología , Estudios Retrospectivos , Córnea/patología , Topografía de la Córnea , Lesiones de la Cornea/patologíaRESUMEN
Fuchs endothelial corneal dystrophy (FECD) is a leading cause of corneal endothelial (CE) degeneration resulting in impaired visual acuity. It is a genetically complex and age-related disorder, with higher incidence in females. In this study, we established a nongenetic FECD animal model based on the physiologic outcome of CE susceptibility to oxidative stress by demonstrating that corneal exposure to ultraviolet A (UVA) recapitulates the morphological and molecular changes of FECD. Targeted irradiation of mouse corneas with UVA induced reactive oxygen species (ROS) production in the aqueous humor, and caused greater CE cell loss, including loss of ZO-1 junctional contacts and corneal edema, in female than male mice, characteristic of late-onset FECD. UVA irradiation caused greater mitochondrial DNA (mtDNA) and nuclear DNA (nDNA) damage in female mice, indicative of the sex-driven differential response of the CE to UVA, thus accounting for more severe phenotype in females. The sex-dependent effect of UVA was driven by the activation of estrogen-metabolizing enzyme CYP1B1 and formation of reactive estrogen metabolites and estrogen-DNA adducts in female but not male mice. Supplementation of N-acetylcysteine (NAC), a scavenger of reactive oxygen species (ROS), diminished the morphological and molecular changes induced by UVA in vivo. This study investigates the molecular mechanisms of environmental factors in FECD pathogenesis and demonstrates a strong link between UVA-induced estrogen metabolism and increased susceptibility of females for FECD development.
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Citocromo P-450 CYP1B1/metabolismo , Aductos de ADN/efectos de la radiación , Daño del ADN/efectos de la radiación , Estrógenos/metabolismo , Distrofia Endotelial de Fuchs/etiología , Rayos Ultravioleta/efectos adversos , Acetilcisteína/administración & dosificación , Animales , Humor Acuoso/efectos de los fármacos , Humor Acuoso/metabolismo , Humor Acuoso/efectos de la radiación , Aductos de ADN/metabolismo , Daño del ADN/efectos de los fármacos , ADN Mitocondrial/metabolismo , ADN Mitocondrial/efectos de la radiación , Modelos Animales de Enfermedad , Endotelio Corneal/efectos de los fármacos , Endotelio Corneal/patología , Endotelio Corneal/efectos de la radiación , Femenino , Depuradores de Radicales Libres/administración & dosificación , Distrofia Endotelial de Fuchs/diagnóstico , Distrofia Endotelial de Fuchs/tratamiento farmacológico , Distrofia Endotelial de Fuchs/patología , Humanos , Masculino , Ratones , Estrés Oxidativo/efectos de la radiación , Especies Reactivas de Oxígeno/metabolismo , Índice de Severidad de la EnfermedadRESUMEN
PURPOSE: To clarify the prognosis of corneal perforation, we compared the etiology and characteristics of patients with traumatic and non-traumatic corneal perforations. METHODS: This retrospective observational study included patients treated for traumatic or non-traumatic corneal perforations at a single tertiary hospital from 1989 to 2019. The variables collected included the primary cause of corneal perforation, final best-corrected visual acuity (BCVA), and treatment administered. The initial treatment administered and treatment success rates were compared between the traumatic and non-traumatic groups. Multivariate linear regression analysis was performed to determine the predictors of final visual acuity. RESULTS: Ninety eyes of 90 patients (mean age, 61.1 ± 19.7 years) were included. Traumatic and non-traumatic corneal perforations occurred in 40 (44.4%) and 50 eyes (55.6%), respectively. Among non-traumatic causes, infection and autoimmune disease were the causes for corneal perforation in 18 (20.0%) and 12 eyes (13.3%), respectively. The success rate for the closure of the perforated site with the initial procedure was significantly higher in traumatic corneal perforations than in non-traumatic corneal perforations (90.0% and 72.2%, respectively; p = 0.038). Patients with traumatic corneal perforation had significantly better final BCVA than those with non-traumatic corneal perforation (0.71 ± 1.18 and 1.52 ± 1.12, respectively; p = 0.0016). On multivariate analysis, older age and non-traumatic corneal perforation were significantly related to the final lower BCVA (p < 0.001 and p = 0.029, respectively). CONCLUSION: Traumatic corneal perforation demonstrated a significantly better prognosis than non-traumatic corneal perforation. It is critical to consider the primary cause of corneal perforation to anticipate prognosis.
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Perforación Corneal , Adulto , Anciano , Anciano de 80 o más Años , Córnea , Perforación Corneal/diagnóstico , Perforación Corneal/epidemiología , Perforación Corneal/etiología , Humanos , Persona de Mediana Edad , Pronóstico , Estudios Retrospectivos , Centros de Atención TerciariaRESUMEN
BACKGROUND: Cytomegalovirus (CMV) has been known to cause unilateral corneal endotheliitis with keratic precipitates and localized corneal edema, iridocyclitis, and secondary glaucoma. CMV endotheliitis is diagnosed based on clinical manifestations and viral examination using qualitative polymerase chain reaction (PCR) of the aqueous humor. CASE PRESENTATION: An 80-year-old woman was referred to our department for bullous keratopathy. Pigmented keratic precipitates were found in the right eye without significant anterior chamber inflammation. After 8 months there was inflammation relapse with mutton fat keratic precipitates and PCR on aqueous humor was performed, with negative results for CMV, herpes simplex virus, and varicella zoster virus. Keratic precipitates disappeared with steroid instillation, and Descemet-stripping automated endothelial keratoplasty (DSAEK) was performed for the right eye. CMV-DNA was positive at 6.0 × 102 copies/ GAPDH 105 copies in real time PCR of corneal endothelial specimen removed during DSAEK with negative results for all the other human herpes viruses. After diagnosis of CMV corneal endotheliitis, treatment with systemic and topical ganciclovir was initiated and there was resolution of symptoms. No recurrence of iridocyclitis or corneal endotheliitis was observed at 6 months follow up. CONCLUSIONS: This case report suggests that PCR should be performed using the endothelium removed during DSAEK for bullous keratopathy of an unknown cause, even if PCR for aqueous humor yields negative results.
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Infecciones por Citomegalovirus , Infecciones Virales del Ojo , Anciano de 80 o más Años , Antivirales/uso terapéutico , Humor Acuoso , Citomegalovirus/genética , Infecciones por Citomegalovirus/diagnóstico , Infecciones por Citomegalovirus/tratamiento farmacológico , ADN Viral , Lámina Limitante Posterior , Endotelio Corneal , Infecciones Virales del Ojo/diagnóstico , Infecciones Virales del Ojo/tratamiento farmacológico , Femenino , Ganciclovir/uso terapéutico , Humanos , Resultados Negativos , Reacción en Cadena de la PolimerasaRESUMEN
Corneal endothelium (CE) is a monolayer of mitochondria-rich cells, critical for maintaining corneal transparency compatible with clear vision. Fuchs endothelial corneal dystrophy (FECD) is a heterogeneous, genetically complex disorder, where oxidative stress plays a key role in the rosette formation during the degenerative loss of CE. Increased mitochondrial fragmentation along with excessive mitophagy activation has been detected in FECD; however, the mechanism of aberrant mitochondrial dynamics in CE cell loss is poorly understood. Here, the role of oxidative stress in mitophagy activation in FECD is investigated. Immunoblotting of FECD ex vivo specimens revealed an accumulation of PINK1 and phospho-Parkin (Ser65) along with loss of total Parkin and total Drp1. Similarly, modeling of rosette formation with menadione (MN), led to phospho-Parkin accumulation in fragmented mitochondria resulting in mitophagy-induced mitochondrial clearance, albeit possibly in a PINK1-independent manner. Loss of PINK1, phospho-Drp1, and total Drp1 was prominent after MN-induced oxidative stress, but not after mitochondrial depolarization by carbonyl cyanide m-chlorophenyl hydrazone. Moreover, MN-induced mitophagy led to degradation of Parkin along with sequestration of Drp1 and PINK1 that was rescued by mitophagy inhibition. This study shows that in FECD, intracellular oxidative stress induces Parkin-mediated mitochondrial fragmentation where endogenous Drp1 and PINK1 are sequestered and degraded by mitophagy during degenerative loss of post-mitotic cells of ocular tissue.
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Endotelio Corneal/patología , Distrofia Endotelial de Fuchs/patología , Mitocondrias/patología , Proteínas Mitocondriales/metabolismo , Mitofagia , Proteínas Quinasas/metabolismo , Ubiquitina-Proteína Ligasas/metabolismo , Antifibrinolíticos/farmacología , Endotelio Corneal/efectos de los fármacos , Endotelio Corneal/metabolismo , Distrofia Endotelial de Fuchs/genética , Distrofia Endotelial de Fuchs/metabolismo , Humanos , Mitocondrias/efectos de los fármacos , Mitocondrias/metabolismo , Proteínas Mitocondriales/genética , Estrés Oxidativo , Proteínas Quinasas/genética , Transducción de Señal , Ubiquitina-Proteína Ligasas/genética , Vitamina K 3/farmacologíaRESUMEN
PURPOSE: To determine the characteristics and risk factors of recurrent keratoconus (KC) after penetrating keratoplasty (PK). METHODS: We enrolled patients who had maintained clear grafts for at least 10 years after PK based on their medical records. Patients were divided into the KC group or Others group based on the primary indication for PK. Each case was reviewed for clinically observed corneal ectasia. Steepest keratometric power (Ks), cylinder (CYL), and difference between Ks and minimum keratometric power (MinK) were analyzed in patients that underwent corneal topography more than three times after the 5th postoperative year. RESULTS: One hundred one eyes of 82 patients were enrolled. The KC group comprised 50 eyes and the Others group comprised 51 eyes (herpes [n = 22], corneal leukoma [n = 12], and other [n = 17]). The mean period after PK was 27.2 years in the KC group and 26.0 years in the Others group. Recurrent KCs were observed in 18 eyes of 14 patients (36%), all of whom were in the KC group (p = 0.0001). Six of these eyes underwent PK again and all the grafts showed keratoconic changes histopathologically. The mean Ks during the whole observation period was 52.5 diopters (D) in the KC group and 49.2 D in the Others group (p < 0.0001). Logistic regression analysis revealed the risk factors of recurrent KC with positive Ks change and large CYL with significant p values (p = 0.0102, 0.0318, respectively). CONCLUSIONS: KC progresses even after PK over the long term, requiring re-grafting in some cases. Risk factors for recurrent KC after PK are increasing Ks over time and a large CYL.
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Córnea/patología , Predicción , Queratocono/cirugía , Queratoplastia Penetrante/efectos adversos , Refracción Ocular , Adulto , Córnea/cirugía , Topografía de la Córnea , Femenino , Estudios de Seguimiento , Humanos , Queratocono/diagnóstico , Queratocono/fisiopatología , Masculino , Recurrencia , Estudios Retrospectivos , Factores de RiesgoAsunto(s)
Enfermedades de la Córnea/patología , Neoplasias del Ojo/patología , Fibroma/patología , Segmento Anterior del Ojo/diagnóstico por imagen , Enfermedades de la Córnea/diagnóstico por imagen , Enfermedades de la Córnea/cirugía , Neoplasias del Ojo/diagnóstico por imagen , Neoplasias del Ojo/cirugía , Fibroma/diagnóstico por imagen , Fibroma/cirugía , Humanos , Masculino , Persona de Mediana Edad , Tomografía de Coherencia ÓpticaRESUMEN
INTRODUCTION: Traffic trauma can lead to ocular damage. Open globe injuries usually have a poor prognosis, which can be ameliorated by prompt diagnosis and appropriate treatment. Nonetheless, few studies have focused on the visual outcomes of patients following traffic accidents. In this study, we aimed to examine the characteristics and prognosis of ocular complications in patients following traffic accidents at a specialized tertiary eye hospital. METHODS: We classified 44 patients from traffic accidents (88 eyes) into groups with equal or better (better group) and worse (worse group) corrected-distance visual acuity than a logarithm of the minimum angle of resolution 0 at the initial presentation. Final corrected-distance visual acuity, intraocular pressure, corneal injury, presence of traumatic cataracts, and treatment were compared between the groups. In addition, a multivariate linear regression analysis was performed to identify factors associated with the final visual acuity. RESULTS: Globe contusion, orbital blowout fracture, traumatic iritis, and trochlear nerve palsy were observed in 14.8%, 3.4%, 2.3%, and 2.3% of the patients, respectively. Topical instillation and ophthalmological treatment/surgery were performed in 17.0% and 9.1% of the patients, respectively. The better group (68 eyes) had significantly better final visual acuity than the worse group (20 eyes) (P < 0.001). However, there was no between-group difference in demographic characteristics. Multivariate analysis demonstrated that there was a significant correlation between the initial and final visual acuities (P < 0.001). CONCLUSIONS: Assessing visual acuity at the initial presentation is crucial for predicting the final visual acuity. Our findings will help to inform ophthalmologists aiming to improve the prognosis and treatment of ocular trauma in patients following traffic accidents.
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Cataract surgery outcomes in centenarian patients have not previously been explored. This study aimed to examine characteristics and report clinical results of people aged ≥100 years undergoing cataract surgery. This was a retrospective observational study, including patients aged ≥100 years who underwent cataract surgery between 2003 and 2021 at Miyata Eye Hospital in Japan. Medical charts were reviewed for information on cataract severity, surgery type, anesthesia, as well as ocular and medical comorbidities. Using Mann-Whitney test, visual acuity, intraocular pressure, and corneal endothelial cell density were compared before and after surgery. Eight eyes of 5 patients were included in the study (mean age, 101.5â ±â 1.2 years). Seven of these eyes (87.5%) belonged to women. All surgeries were performed under topical anesthesia using phacoemulsification and insertion of the intraocular lens fixed in the bag. All patients had multiple preoperative medical comorbidities; however, there were no intraoperative, postoperative ocular, or general complications. The postoperative best-corrected visual acuity was significantly improved compared to that before surgery (1.18â ±â 0.74 and 0.29â ±â 0.52, respectively, Pâ =â .004). Neither intraocular pressure nor corneal endothelial cell density demonstrated a significant difference postoperatively. Cataract surgery can be safely performed under topical anesthesia in centenarians without complications using proper perioperative medical control and preparation.
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Facoemulsificación , Agudeza Visual , Humanos , Femenino , Estudios Retrospectivos , Anciano de 80 o más Años , Masculino , Facoemulsificación/métodos , Presión Intraocular/fisiología , Catarata , Resultado del Tratamiento , Implantación de Lentes Intraoculares/métodos , Implantación de Lentes Intraoculares/estadística & datos numéricos , Extracción de Catarata/métodos , Extracción de Catarata/estadística & datos numéricos , Japón/epidemiologíaRESUMEN
Introduction: Inflammatory juvenile conjunctival nevus (IJCN) is a rare condition affecting both children and adolescents. It has misleading clinical and histopathological features; therefore, careful assessment is necessary. We present a case of IJCN with a rare pathological type and misleading histopathological features. Case Presentation: A 13-year-old girl with IJCN in the right eye was treated with antiallergic and steroid eye drops but showed no response and was referred to our hospital for excisional biopsy. Slit-lamp examination revealed a nonpigmented juxtalimbal tumor in the right eye. Histopathologically, nevus cells with mild nuclear atypia proliferated within the conjunctival epithelium. Confluent growth of junctional nests, conjunctival cysts, and prominent inflammatory infiltration were also observed. Considering the young age of the patient and immunohistochemical characteristics (HMB-45, SOX10, p16 and Ki-67), the patient was finally diagnosed with IJCN. IJCN has three pathological subtypes - compound, subepithelial, and junctional - depending on the location of the nevus cells. This case was diagnosed as a rare junctional type, as most of the examined sections only showed lesions within the epithelium; no lesions were clearly identified extending beneath the epithelium. Conclusion: The pathological diagnosis of IJCN is difficult because some features of IJCN suggest malignancy. Detailed microscopic examination, immunohistochemical staining, and the patient's young age helped render a final diagnosis.
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Introduction: Corneal graft detachment is a major postoperative complication of Descemet's stripping automated endothelial keratoplasty (DSAEK). When a corneal graft becomes detached, corneal endothelial function generally fails, and repeat corneal transplantation is required. Herein, we report a rare case in which a transparent cornea was maintained after the removal of a dislocated DSAEK graft. Case Presentation: A 79-year-old woman with a residual lens cortex who had undergone cataract surgery was referred to our hospital. The cortex was removed, and bullous keratopathy progressed. Six months after the initial surgery, DSAEK was performed under topical anesthesia without any complications. Although the corneal graft had attached fairly well, it detached from the host cornea 3 weeks later. Two months after DSAEK, an air tamponade was used to treat the anterior chamber with single interrupted suturing; however, the graft detached again, except for the suture site. Because the detached cornea became cloudy in the anterior chamber, it was surgically removed 8 months after DSAEK. Accordingly, the host cornea transparency improved to a best-corrected visual acuity of 0.8 with a rigid gas permeable lens and a central corneal thickness of 580 µm. The corneal endothelial cell density was 995 cells/mm2. Conclusion: Removal of the corneal graft from the dislocated cloudy graft improved the visual acuity of this patient after DSAEK. The condition of the cornea should be carefully monitored after corneal endothelial transplantation, even after the graft has been dislocated.
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PURPOSE: To investigate the influence of cycloplegia with topical atropine on higher-order aberrations (HOAs) of the eye in children. DESIGN: Prospective, noncomparative study. PARTICIPANTS: Twenty-three eyes of 23 subjects (11 boys and 12 girls) with hyperopia, ranging in age from 3 to 12 years (average, 5.74 years), were enrolled in this study. METHODS: Refraction and wavefront aberration were evaluated before and after cycloplegia with topical instillation of 1% atropine solution administered twice daily for 1 week. Ocular and corneal HOAs were measured simultaneously, and individual Zernike components were analyzed for a 6-mm pupil up to the 6th order. All these parameters were compared before and after cycloplegia. MAIN OUTCOME MEASURES: Ocular and corneal HOAs before and after cycloplegia. RESULTS: Cycloplegia with topical atropine significantly increased spherical equivalent refraction from +1.92±1.53 diopters (D) to +3.10±1.61 D (P<0.01, paired t test). Ocular HOAs significantly increased from 0.282±0.086 µm to 0.316±0.087 µm for coma-like aberrations (P=0.02), from 0.169±0.058 µm to 0.192±0.076 µm for spherical-like aberrations (P=0.02), and from 0.333±0.093 µm to 0.377±0.095 µm for total HOAs (P=0.01). Corneal HOAs did not change after cycloplegia. As for individual Zernike components, significant changes were found in C3(1) and C4(0) after cycloplegia (P<0.05). The induced changes in C4(0) were correlated significantly with those in spherical equivalent refraction (Pearson's correlation coefficient, R=0.45; P=0.03). CONCLUSIONS: Cycloplegia with atropine induced significant hyperopic shift and increases in ocular HOAs in children, leading to reduction in optical quality of the eye. It may be that physiologic tonic accommodation plays a role in improving retinal image quality by decreasing HOAs and refractive errors. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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Acomodación Ocular/efectos de los fármacos , Atropina/administración & dosificación , Aberración de Frente de Onda Corneal/fisiopatología , Hiperopía/fisiopatología , Midriáticos/administración & dosificación , Aberrometría , Administración Tópica , Niño , Preescolar , Femenino , Humanos , Masculino , Estudios Prospectivos , Pupila/efectos de los fármacos , Refracción Ocular/fisiología , Agudeza Visual/fisiologíaRESUMEN
Purpose: This report aimed to present a case of corneal fibrosis with prolonged atopic blepharitis caused by psychological resistance to steroid treatment. Observations: A 49-year-old woman presented with atopic dermatitis and a history of panic attack and autism spectrum disorder. The upper and lower eyelid margins of her right eye became adherent, and the eyelid remained closed for several years due to refusal of steroid treatment and aggravation of blepharitis. During the initial examination, a lesion with elevated white opacity on the corneal surface was observed. Subsequently, superficial keratectomy was performed. The histopathological findings were indicative of corneal keloid. Conclusions and Importance: Persistent atopic ocular surface inflammation and prolonged eyelid closure resulted in the formation of a corneal keloid.
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Toxicity of Paederus species to eyes has scarcely been reported. This report presents a case of chemical blepharokeratoconjunctivitis with delayed re-epithelialization caused by Paederus fuscipes in a patient with dry eye after laser-assisted in situ keratomileusis (LASIK). A 47-year-old woman who had undergone LASIK for myopia 10 years prior experienced visual disturbance and pain in her left eye after being hit by a P. fuscipes insect in her eye 1 day prior to evaluation. At the initial presentation, dermatitis around the patient's left eye, eyelid oedema, conjunctival chemosis, corneal epithelial defects, and a best corrected visual acuity (BCVA) of 20/200 were noted. No gram-positive/negative bacteria or indication of cellulitis/elevated inflammation was detected. Administration of topical steroids (betamethasone) and antibiotics (topical: cefmenoxime and levofloxacin; intravenous: ceftriaxone) improved the non-infectious chemical blepharokeratoconjunctivitis; however, the large corneal epithelial defect remained for 10 days. Switching from betamethasone to a preservative-free form facilitated re-epithelialization, and the patient's BCVA improved to 20/16 after 2 months. Ophthalmologists should consider the toxicity of the Paederus species on the ocular surface and eyelid.
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Background: Epikeratophakia is a refractive surgical procedure used to correct aphakic eyes, hyperopia, and keratoconus and is often performed in children. In this report, we present the long-term effects of epikeratophakia on the progression of keratoconus in a patient who underwent surgery. Case Presentation. The patient was a 17-year-old boy with keratoconus who had difficulty wearing hard contact lenses. As a solution, he underwent right eye epikeratophakia with a plano-powered lenticule. We followed up the patient for 30 years. Although the progression of keratoconus ceased in the operated eye, it continued in the nonoperated left eye and resulted in acute hydrops 9 years and 10 months after surgery. Subsequently, 20 years after the operation, anterior-segment optical coherence tomography was performed, which revealed that the progression of keratoconus had been interrupted in the right eye but had continued in the left eye, as evidenced by the parameters of the average and maximum keratometry and thinnest corneal thickness. Conclusions: Herein, we reported the longest follow-up to date of a case of keratoconus, in which one eye was treated with epikeratophakia. The progression of keratoconus was halted in the treated eye but continued in the nonoperated contralateral eye.
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PURPOSE: We aimed to identify pathogenic variations in the UbiA prenyltransferase domain-containing protein 1 (UBIAD1) gene in a Japanese family with Schnyder corneal dystrophy (SCD). STUDY DESIGN: Clinical study METHODS: Three clinically diagnosed SCD patients from a single pedigree participated. Patients 1 and 2 were 69- and 65-year-old sisters, and patient 3 was the 42-year-old daughter of patient 1. Blood samples from the patients were obtained for genetic analysis. Mutation screening of the two UBIAD1 exons was performed using polymerase chain reaction (PCR)-based DNA sequencing. RESULTS: All participants were found to be heterozygous for the pathogenic missense variation c.695 A > G (p.Asn232Ser) in exon 2 of UBIAD1. CONCLUSION: This is the first report on the pathogenic UBIAD1 variation c.695 A > G (p.Asn232Ser) in a Japanese population. SCD is a rare corneal dystrophy, and further research on additional cases will aid in the elucidation of disease mechanisms and development of therapeutic strategies.
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Distrofias Hereditarias de la Córnea , Dimetilaliltranstransferasa , Humanos , Adulto , Dimetilaliltranstransferasa/genética , Dimetilaliltranstransferasa/metabolismo , Pueblos del Este de Asia , Distrofias Hereditarias de la Córnea/diagnóstico , Distrofias Hereditarias de la Córnea/genética , Mutación , LinajeRESUMEN
The adverse effects of hard contact lenses (HCL) on the corneal endothelium have been studied in the short term; however, long-term effects remain still unclear. In this study, we analyzed the effect of long-term HCL use on corneal endothelial cell density (ECD) and morphology in healthy Japanese individuals. This cross-sectional observational study included individuals using HCL for refractive errors examined at a single specialty eye hospital. Patient age, duration of HCL usage, ECD, coefficient of variation of the cell area (CV), and rate of appearance of hexagonal cells (6A) obtained via non-contact specular microscopy were assessed. We analyzed 8604 eyes (mean age: 35.6 ± 10.0 years, 837 males, 3465 females). The mean duration of HCL usage was 14.7 ± 9.1 (range, 1-50) years. Multivariate analysis revealed that ECD significantly correlated with age (P < 0.001) but not with duration of usage; however, CV and 6A significantly correlated with both factors (P < 0.001). Univariate analysis revealed that CV and 6A correlated with duration of usage (all, P < 0.001). According to our results, CV and 6A correlated with the duration of HCL usage in ophthalmologically healthy Japanese individuals. Therefore, it is important to monitor corneal endothelial morphology in long-term HCL wearers.
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Lentes de Contacto , Masculino , Femenino , Humanos , Adulto , Persona de Mediana Edad , Estudios Transversales , Japón , Recuento de Células , Lentes de Contacto/efectos adversos , Endotelio Corneal , Células EndotelialesRESUMEN
PURPOSE: The aim of this study was to investigate the sectorized corneal thickness of eyes with corneal endothelial dysfunction using anterior-segment optical coherence tomography. METHODS: We retrospectively collected anterior-segment optical coherence tomography data conducted before endothelial keratoplasty on 53 eyes of 53 patients with corneal endothelial dysfunctions including Fuchs endothelial corneal dystrophy, bullous keratopathy (BK) after trabeculectomy, and BK after laser iridotomy and from 18 normal eyes of 18 subjects. The imaging points were divided into 17 sectors. The mean for each sector was calculated and compared with the corresponding superior/inferior and temporal/nasal sectors. RESULTS: In the normal eyes, the superior sectors were thicker than the inferior and the temporal sectors thinner than the nasal. In the diseased eyes, the superior sectors were thicker than the inferior in all subgroups; however, this tendency was no longer observed after the values were divided by the mean for the normal eyes. No significant differences were found on horizontal comparisons; however, after the values were divided by the mean for the normal eyes, the temporal sectors were thicker than the nasal. When comparing the values between the with-hole and the without-hole sides in the BK after laser iridotomy eyes, the sectors on the with-hole side were thicker than the other side. CONCLUSIONS: Corneal thickness of endothelial dysfunction was thicker in the superior sectors than the inferior but at a similar level to normal eyes. No significant differences were found for horizontal comparisons but, based on comparison with the normal eyes, the temporal sectors were thicker than the nasal.
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Edema Corneal , Distrofia Endotelial de Fuchs , Humanos , Tomografía de Coherencia Óptica/métodos , Estudios Retrospectivos , Córnea , Distrofia Endotelial de Fuchs/cirugíaRESUMEN
PURPOSE: Irregular corneal epithelium in limbal stem cell disease can cause visual acuity to deteriorate substantially when it reaches the pupil. In this case series, we assessed the effectiveness of simple corneal epithelial superficial keratectomy in improving visual acuity in patients with irregular corneal epithelium in focal limbal stem cell disease covering the visual axis. OBSERVATIONS: We performed simple corneal epithelial superficial keratectomy in four patients (five eyes) with irregular corneal epithelium covering the visual axis. The main outcome measures were best-corrected visual acuity, slit lamp findings with fluorescein staining, anterior segment optical coherence tomography and histopathology. In all five eyes, slit lamp findings showed uneven fluorescein staining in a spiral pattern, with impaired corneal epithelial smoothness and visual disturbance. We removed the irregular epithelium in all five eyes. Visual acuity in all the eyes was improved immediately after surgery, and good visual acuity and stable epithelium were maintained for the duration of the observation periods. Hematoxylin and eosin staining showed, normal squamous and columnar epithelial cells. Goblet cells were not detected. CONCLUSIONSAND IMPORTANCE: Corneal epithelial superficial keratectomy can lead to a pathological diagnosis by examining the removed epithelial tissues, and result in excellent therapeutic outcomes in focal limbal stem cell disease reaching the pupil.