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OBJECTIVES: To examine the severe ocular complications associated with contact lens wearing in Japan. METHOD: A questionnaire was sent to 964 ophthalmologist training facilities inquiring for cases of contact lens-associated complications from April 2016 to March 2018. The inclusion criteria were as follows: (1) corrected distance visual acuity ≤0.1 decimal after treatment for 3 months, (2) corneal perforation observed during follow-up, and (3) requiring surgery. A secondary analysis was conducted, inquiring for further information on the type of contact lens, clinical manifestations, and course of treatment. RESULTS: Forty-two patients with infectious keratitis met the inclusion criteria. Eight patients were users of rigid gas-permeable contact lens, and 34 were users of soft contact lens. Microbiological tests were positive in 73.0%. The organisms isolated in microbiological culture were bacteria in 11 patients (Pseudomonas aeruginosa in 9 patients), fungi in 2 patients, and Acanthamoeba in 14 patients. Ten patients were treated with local antibiotics, 11 with a combination of systemic antibiotics, and 21 with a combination of surgical approaches, including 13 with corneal transplantation. CONCLUSIONS: The major cause of serious contact lens-associated ocular complications was microbial keratitis, and P. aeruginosa and Acanthamoeba were the major pathogens in Japan.
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Acanthamoeba , Lentes de Contato Hidrofílicas , Ceratite , Olho , Humanos , Japão/epidemiologia , Ceratite/epidemiologia , Ceratite/etiologiaRESUMO
INTELLANCE-J was a phase 1/2 study of a potent antibody-drug conjugate targeting epidermal growth factor receptor (EGFR), depatuxizumab mafodotin (Depatux-M), as a second- or first-line therapy, alone or combined with chemotherapy or chemoradiotherapy in 53 Japanese patients with World Health Organization (WHO) grade III/IV glioma. In second-line arms, patients with EGFR-amplified recurrent WHO grade III/IV glioma received Depatux-M plus chemotherapy (temozolomide) or Depatux-M alone regardless of EGFR status. In first-line arms, patients with newly diagnosed WHO grade III/IV glioma received Depatux-M plus chemoradiotherapy. The study was halted following lack of survival benefit with first-line Depatux-M in the global trial INTELLANCE-1. The primary endpoint was 6-month progression-free survival (PFS) in patients with EGFR-amplified tumors receiving second-line Depatux-M plus chemotherapy. Common nonocular treatment-emergent adverse events (TEAEs) with both second-line and first-line Depatux-M included lymphopenia (42%, 33%, respectively), thrombocytopenia (39%, 47%), alanine aminotransferase increase (29%, 47%), and aspartate aminotransferase increase (24%, 60%); incidence of grade ≥3 TEAEs was 66% and 53%, respectively. Ocular side effects (OSEs) occurred in 93% of patients receiving second-line Depatux-M plus chemotherapy and all patients receiving second-line Depatux-M alone or first-line Depatux-M plus chemoradiotherapy. Most OSEs were manageable with dose modifications and concomitant medications. The 6-month PFS estimate was 25.6% (95% confidence interval [CI] 11.4-42.6), and median PFS was 2.1 months (95% CI 1.9-3.9) with second-line Depatux-M plus chemotherapy in the EGFR-amplified subgroup. This study showed acceptable safety profile of Depatux-M alone or plus chemotherapy/chemoradiotherapy in Japanese patients with WHO grade III/IV glioma. The study was registered at ClinicalTrials.gov (NCT02590263).
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Anticorpos Monoclonais Humanizados/administração & dosagem , Neoplasias Encefálicas/tratamento farmacológico , Glioma/tratamento farmacológico , Temozolomida/administração & dosagem , Adulto , Idoso , Anticorpos Monoclonais Humanizados/efeitos adversos , Neoplasias Encefálicas/genética , Neoplasias Encefálicas/patologia , Neoplasias Encefálicas/radioterapia , Quimiorradioterapia , Tratamento Farmacológico , Receptores ErbB/genética , Feminino , Amplificação de Genes , Glioma/genética , Glioma/patologia , Glioma/radioterapia , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Gradação de Tumores , Análise de Sobrevida , Temozolomida/efeitos adversos , Resultado do TratamentoRESUMO
BACKGROUND: Improving the specific health checkups participation rate is an essential task nationwide; however, studies on measures to accomplish this are limited. This study aimed to examine the influence of ophthalmic checkups on the specific health checkups' participation rate. METHODS: We conducted a postal questionnaire survey on 1,741 countrywide municipalities in Japan from January to February 2019. The questionnaire specifically addressed health checkup participation rates of 2017, health checkups formats (group, individual, or both), simultaneous cancer screenings, simultaneous ophthalmic checkups, and the state of implementation of ophthalmic checkups. We used multiple linear regression analyses to calculate the partial regression coefficients (ßs) and their 95% confidential intervals (CIs) to identify the influence of simultaneous ophthalmic checkups on specific health checkup participation rates. RESULTS: There was a significant association between specific health checkup participation rates and simultaneous ophthalmic checkups (ß: +2.5%; 95% CI, 1.3-3.8) after adjusting for covariates. The fundus photos of all applicants, fundus photos with restrictions, and ophthalmology consultation for all applicants were associated with a significant increase in the specific health checkup participation rate (ß: +2.8%, 95% CI, 1.2-4.4; ß: +2.0%, 95% CI, 0.2-3.9; ß: +7.4%, 95% CI, 1.2-13.6 respectively). CONCLUSIONS: Our results suggest that additional simultaneous ophthalmic checkups as specific health checkups could increase the specific health checkup participation rate.
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Oftalmopatias/diagnóstico , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Exame Físico/estatística & dados numéricos , Humanos , Japão , Inquéritos e QuestionáriosRESUMO
The 2017 consensus report of the Asia Dry Eye Society (ADES) on the definition and diagnosis of dry eyes described dry eye disease as "Dry eye is a multifactorial disease characterized by unstable tear film causing a variety of symptoms and/or visual impairment, potentially accompanied by ocular surface damage." The report emphasized the instability of tear film and the importance of visual dysfunction in association with dry eyes, highlighting the importance of the evaluation of tear film stability. This report also discussed the concept of tear film-oriented therapy, which stemmed from the definition, and which is centered on provision of insufficient components in each tear film layer and ocular surface epithelium. The current ADES report proposes a simple classification of dry eyes based on the concept of tear film-oriented diagnosis and suggests that there are three types of dry eye: aqueous-deficient, decreased wettability, and increased evaporation. It is suggested that these three types respectively coincide with the problems of each layer: aqueous, membrane-associated mucins, and lipid/secretory mucin. Although each component cannot be quantitatively evaluated with the current technology, a practical diagnosis based on the patterns of fluorescein breakup is recommended. The Asia Dry Eye Society classification report suggests that for a practical use of the definition, diagnostic criteria and classification system should be integrated and be simple to use. The classification system proposed by ADES is a straightforward tool and simple to use, only through use of fluorescein, which is available even to non-dry eye specialists, and which is believed to contribute to an effective diagnosis and treatment of dry eyes.
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Síndromes do Olho Seco/classificação , Oftalmologia , Sociedades Médicas , Ásia , HumanosRESUMO
PURPOSE: To evaluate the effect of meibomian gland dysfunction (MGD) and friction-related disease (FRD) on the severity of dry eye disease (DED). DESIGN: Cross-sectional observational study. PARTICIPANTS: This study enrolled 449 patients with DED (63 men and 386 women; mean age, 62.6±15.7 years [range, 21-90 years]) for analysis. METHODS: Subjective symptoms, the ocular surface, tear function, and the presence of MGD and FRD (superior limbic keratoconjunctivitis, conjunctivochalasis, and lid wiper epitheliopathy) were investigated. MAIN OUTCOME MEASURES: Schirmer value, tear film breakup time (TBUT), and keratoconjunctival score. RESULTS: We classified the participants into aqueous-deficient dry eye (ADDE; n = 231 [51.4%]) and short TBUT dry eye subtype (TBUT-DE; n = 109 [24.3%]) subgroups. The TBUT was shorter in patients with MGD than in those without MGD, whereas other ocular signs showed no difference (TBUT: MGD present, 1.97±1.02 seconds; MGD absent, 2.94±1.63 seconds [P < 0.001]; ADDE/MGD present, 1.94±1.08 seconds; ADDE/MGD absent, 2.77±1.61 seconds [P < 0.001]; short TBUT-DE/MGD present, 2.07±0.97 seconds; short TBUT-DE/MGD absent, 2.94±1.23 seconds [P = 0.01]). The ADDE patients with FRD showed a worse TBUT than ADDE patients without FRD (TBUT: ADDE/FRD present, 2.08±1.39 seconds; ADDE/FRD absent, 2.92±1.54 seconds; P < 0.001). CONCLUSIONS: This study showed associations between MGD, FRD, or both and ocular signs in DED. In the presence of MGD, FRD, or both, TBUT was significantly shortened regardless of the dry eye status or subtype.
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Síndromes do Olho Seco/diagnóstico , Doenças Palpebrais/metabolismo , Glândulas Tarsais/metabolismo , Lágrimas/metabolismo , Idoso , Estudos Transversais , Síndromes do Olho Seco/etiologia , Síndromes do Olho Seco/metabolismo , Doenças Palpebrais/complicações , Doenças Palpebrais/diagnóstico , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Índice de Gravidade de DoençaRESUMO
BACKGROUND: To determine whether quality of life (QOL) and health utility are affected to the same extent among dry eye (DE) patients with short tear film break-up time dry eye (TBUT-DE) with minimal clinical signs were as severe as aqueous-deficient dry eye (ADDE). METHODS: A multicenter cross-sectional study was conducted among DE patients who visited one of 10 eye clinics in Japan. Among the 463 registered patients, this study involved 449 patients with DE who were aged 20 years or older. Ophthalmic examination findings were assessed, including tear film break-up time (TBUT), Schirmer I value, and keratoconjunctival staining score. QOL was evaluated with the Dry Eye-Related Quality-of-Life Score (DEQS; 0 [best], 100 [worst]) and health utility (1 [total health], 0 [worst]) with the Health Utilities Index Mark 3 (HUI-3); scores were stratified by DE subgroup. RESULTS: Median (interquartile range) of DEQS and HUI-3 scores across all participants were 21.7 (10.0-40.0) and 0.82 (0.69-0.91), respectively. Median (interquartile range) DEQS and HUI-3 scores in the ADDE group were 23.3 (10.0-40.0) and 0.79 (0.69-0.88), respectively; those in the short TBUT-DE group were 23.3 (13.3-38.3) and 0.82 (0.74-0.92), respectively. There were no significant between-group differences in questionnaire scores. Among the ophthalmic examination findings, a weak significant correlation between TBUT, corneal staining score and keratoconjunctival staining score to DEQS; TBUT and Schirmer test values to HUI-3, were seen. CONCLUSIONS: The burden of short TBUT-DE on QOL as assessed by the DEQS and HUI-3 was as severe as that in ADDE. Our findings suggest that clinicians should be aware of the impact of short TBUT-DE on patients QOL and utility values. TRIAL REGISTRATION: University Hospital Medical Information Network (registration no. UMIN 000015890). Registered 10th December 2014, retrospectively registered.
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Síndromes do Olho Seco/fisiopatologia , Qualidade de Vida , Idoso , Estudos Transversais , Síndromes do Olho Seco/classificação , Síndromes do Olho Seco/psicologia , Feminino , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Índice de Gravidade de Doença , Inquéritos e QuestionáriosRESUMO
PURPOSE: To report a difficult-to-identify case of keratitis due to Fusarium solani, diagnosed with the help of exhaustive gene analysis. CASE: A 47-year-old woman attended our hospital with a refractory corneal ulcer associated with contact lens wear in her left eye that had appeared two weeks earlier. On her initial visit, slit lamp examination revealed a small double-ringed irregular hyphate ulcer in the center of the cornea, which had no epithelial defect, suggesting fungal infection. Microscopic visualization and culture of corneal scrapings were performed repeatedly, but the results were negative. Despite intensive antifungal treatment, infiltration of the cornea worsened and therapeutic keratoplasty was performed. Specimens from a corneal button were microbiologically and histologically negative for microorganisms. During irrigation of the anterior chamber with amphotericin B, aspirated corneal infiltrations were submitted for culture and metagenomic analysis. Genes belonging to F. solani were identified by metagenomic analysis, and an isolate presumed to be a Fusarium species was cultured. Genotypic identification of the isolates confirmed F. solani. CONCLUSION: The detection of microorganisms, especially fungi, can be extremely difficult. In difficult-to-culture cases, metagenomic analysis seems to be a promising technique for the identification of microbial pathogens.
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Córnea/microbiologia , Infecções Oculares Fúngicas/microbiologia , Fusarium/genética , Ceratite/microbiologia , Metagenômica , Anfotericina B/uso terapêutico , Antifúngicos/uso terapêutico , Córnea/patologia , Córnea/cirurgia , Transplante de Córnea , DNA Fúngico/genética , DNA Fúngico/isolamento & purificação , Infecções Oculares Fúngicas/diagnóstico , Infecções Oculares Fúngicas/patologia , Infecções Oculares Fúngicas/terapia , Feminino , Fusarium/isolamento & purificação , Humanos , Pessoa de Meia-Idade , Análise de Sequência de DNARESUMO
PURPOSE: To evaluate the efficacy of topical application of 3% diquafosol tetrasodium solution for the treatment of soft contact lens (SCL) wearers with dryness. In addition to clinical tests and subjective symptoms, we assessed the fluorescence intensity of wheat germ agglutinin conjugate of fluorescein (F-WGA) used as a marker of membrane-associated mucins and sialic acid concentration in tear fluids as a marker of secreted mucins. METHODS: Twelve SCL wearers with dryness symptoms were treated with diquafosol for 4 weeks. Clinical tests included the tear film break-up time (BUT), corneal and conjunctival fluorescein staining scores, and Schirmer values. Subjective symptoms were evaluated by the Dry Eye-Related Quality-of-Life Score (DEQS). Fluorescence intensities in the central cornea were measured by fluorophotometry at 5 minutes after a 5% F-WGA solution was applied to the eye. The tears collected by the Schirmer test strips were analyzed by high-performance liquid chromatography (HPLC), and the concentrations of sialic acid; total protein; and the four major tear proteins secretory IgA, lactoferrin, lipocalin-1, and lysozyme proteins were measured. RESULTS: Comparing the results before and after diquafosol treatment, BUT (p < 0.01), kerato-conjunctival staining score (p < 0.05), corneal staining score (p < 0.05), and DEQS score (p < 0.01) showed statistically significant improvements. The F-WGA fluorescence intensities (p < 0.0001) significantly increased after treatment, whereas the concentrations of sialic acid and tear proteins remained unchanged. CONCLUSIONS: Topical application of diquafosol solution to the SCL wearers with dryness improved biomarker of membrane-associated mucins, BUT, staining of cornea and conjunctiva, and subjective symptoms.
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Lentes de Contato Hidrofílicas/efeitos adversos , Córnea/patologia , Síndromes do Olho Seco/prevenção & controle , Proteínas do Olho/análise , Polifosfatos/farmacologia , Lágrimas/química , Nucleotídeos de Uracila/farmacologia , Adulto , Cromatografia Líquida de Alta Pressão , Síndromes do Olho Seco/diagnóstico , Síndromes do Olho Seco/etiologia , Feminino , Fluorofotometria , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Soluções Oftálmicas , Estudos Prospectivos , Adulto JovemRESUMO
Indigenous oral bacteria in the tongue coating such as Veillonella have been identified as the main producers of hydrogen sulfide (H2S), one of the major components of oral malodor. However, there is little information on the physiological properties of H2S production by oral Veillonella such as metabolic activity and oral environmental factors which may affect H2S production. Thus, in the present study, the H2S-producing activity of growing cells, resting cells, and cell extracts of oral Veillonella species and the effects of oral environmental factors, including pH and lactate, were investigated. Type strains of Veillonella atypica, Veillonella dispar, and Veillonella parvula were used. These Veillonella species produced H2S during growth in the presence of l-cysteine. Resting cells of these bacteria produced H2S from l-cysteine, and the cell extracts showed enzymatic activity to convert l-cysteine to H2S. H2S production by resting cells was higher at pH 6 to 7 and lower at pH 5. The presence of lactate markedly increased H2S production by resting cells (4.5- to 23.7-fold), while lactate had no effect on enzymatic activity in cell extracts. In addition to H2S, ammonia was produced in cell extracts of all the strains, indicating that H2S was produced by the catalysis of cystathionine γ-lyase (EC 4.4.1.1). Serine was also produced in cell extracts of V. atypica and V. parvula, suggesting the involvement of cystathionine ß-synthase lyase (EC 4.2.1.22) in these strains. This study indicates that Veillonella produce H2S from l-cysteine and that their H2S production can be regulated by oral environmental factors, namely, pH and lactate.
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Sulfeto de Hidrogênio/metabolismo , Ácido Láctico/farmacologia , Veillonella/metabolismo , Alanina/análogos & derivados , Alanina/metabolismo , Amônia/metabolismo , Cistationina beta-Sintase/metabolismo , Cistationina gama-Liase/metabolismo , Cisteína/metabolismo , Concentração de Íons de Hidrogênio , Serina/metabolismo , Sulfetos/metabolismo , Veillonella/efeitos dos fármacosRESUMO
Purpose: To evaluate the efficacy and safety of slanted bilateral lateral rectus recession (BLR-rec) for treating convergence insufficiency-type intermittent exotropia (CI-IXT) in children. Methods: In this retrospective cohort study, 26 patients aged <16 years with CI-IXT who underwent BLR-rec between August 2016 and July 2021 with six months of follow-up data post-surgery were classified into slanted BLR-rec group (n = 14) and standard BLR-rec group (n = 12; equal-length recession of the upper and lower horns of the LR muscle). Surgical outcomes were compared between the groups. Results: In the slanted and standard groups, the preoperative distance exodeviation was 27.9 ± 5.5 and 30.8 ± 10.0 prism diopter (PD) (p = 0.63), near exodeviation was 41.1 ± 5.6 and 42.9 ± 9.2 PD (p = 0.75), and difference between near and distance deviation (N-D deviation difference) was 13.2 ± 3.2 and 12.1 ± 3.3 PD (p = 0.30), respectively. The ratio of postoperative and preoperative N-D deviation difference was compared between the slanted BLR and standard BLR groups at six months postoperatively. The results revealed that the ratio for slanted-BLR was 0.44 ± 0.19, and for standard-BLR was 0.84 ± 0.24. In the standard group, stereoacuity remained unchanged post-surgery compared to that pre-surgery, while the slanted group showed significant improvement (p < 0.05, Wilcoxon signed-rank test). Conclusion: Compared with the standard BLR-rec procedure, the slanted BLR-rec procedure reduced N-D deviation differences in CI-IXT, positively impacting gross stereopsis.
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PURPOSE: The ocular surface in patients with atopic dermatitis (AD) is known to harbor an abundance of gram-positive cocci, particularly Staphylococcus aureus (S. aureus). This study reviewed the results of microbial cultures from the conjunctiva in AD patients, with special attention to the levofloxacin susceptibility of Staphylococci. STUDY DESIGN: Retrospective, single-center study. METHODS: This study involved 131 eyes of 112 Japanese patients with AD (87 men and 25 women, mean age: 40.4 ± 12.2 years) who underwent ocular surgery at Kyorin University Hospital. Bacterial isolates were collected from the conjunctival sacs in the preoperative period. Drug resistance to methicillin and levofloxacin was judged using the minimal inhibitory concentrations of oxacillin and levofloxacin determined by the broth dilution method. RESULTS: One hundred and fifty-seven strains were identified in 103 of the 131 eyes examined. S. aureus was isolated from 74 eyes (56.5%), followed by Staphylococcus epidermidis (S. epidermidis). In S. aureus, 11 strains (14.9%) were methicillin-resistant, and 18 (24.3%) were levofloxacin-resistant. In S. epidermidis, 15 strains (26.8%) were methicillin-resistant, and 17 (30.4%) were levofloxacin-resistant. No significant differences were observed in levofloxacin susceptibility with age, sex, previous ocular surgery, or duration of previous surgery. However, logistic multivariate analysis revealed that levofloxacin-resistant Staphylococci were concurrently resistant to methicillin, suggesting multidrug resistance. CONCLUSION: Distinctive bacterial distribution and drug resistance need consideration in the managing of ocular disorders among patients with AD.
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Dermatite Atópica , Infecções Estafilocócicas , Masculino , Humanos , Feminino , Adulto , Pessoa de Meia-Idade , Levofloxacino/farmacologia , Levofloxacino/uso terapêutico , Staphylococcus , Antibacterianos/farmacologia , Antibacterianos/uso terapêutico , Meticilina/farmacologia , Staphylococcus aureus , Estudos Retrospectivos , Túnica Conjuntiva/microbiologia , Infecções Estafilocócicas/tratamento farmacológico , Infecções Estafilocócicas/microbiologiaRESUMO
PURPOSE: To classify secondary corneal amyloidosis (SCA) by its clinical appearance, to analyze the demographics of the patients, and to determine the involvement of lactoferrin. DESIGN: Retrospective, observational, noncomparative, multicenter study. PARTICIPANTS: Twenty-nine eyes of 29 patients diagnosed with SCA by corneal specialists at 9 ophthalmologic institutions in Japan were studied. METHODS: The clinical appearance of SCA was determined by slit-lamp biomicroscopy and was classified into 3 types. The demographics of the patients, for example, age, gender, and the duration of the basic disease (trichiasis, keratoconus, and unknown), were determined for each clinical type. Surgically excised tissues were stained with Congo red and antilactoferrin antibody. The postoperative prognosis also was determined. MAIN OUTCOME MEASURES: Clinical appearance of the 3 types of SCA, along with the gender, age, and duration of the basic diseases were determined. RESULTS: Classification of SCA into 3 types based on clinical appearance found 21 cases with gelatinous drop-like dystrophy (GDLD)-like appearance (GDLD type), 3 cases with lattice corneal dystrophy (LCD)-like appearance (LCD type), and 5 cases with the combined type. Patients with the GDLD type were younger (average age: 40.9 years for the GDLD type, 74.3 years for the LCD type, and 46.8 years for the combined type), predominantly women (85.7% for the GDLD type, 33.3% for the LCD type, and 60% for the combined type), and had the basic disease over a longer time (average duration: 22.1 years for the GDLD type, 14.0 for the LCD type, and 11.4 for the combined type). The distribution of the basic diseases (trichiasis vs. keratoconus vs. unknown) was not significantly different for each type. Surgical treatments, for example, phototherapeutic keratectomy, lamellar keratoplasty, and simple keratectomy, resulted in a good resolution in all surgically treated cases. One subject dropped out of the study. Spontaneous resolution was seen in one subject after epilation of the cilia. Amorphous materials in the excised tissues showed positive staining results by Congo red and by antilactoferrin antibody. CONCLUSIONS: Secondary corneal amyloidosis can be classified into 3 clinical types based on its clinical appearance. Larger numbers of females and lactoferrin expression were seen in all 3 types. FINANCIAL DISCLOSURE(S): The author(s) have no proprietary or commercial interest in any materials discussed in this article.
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Amiloidose/classificação , Doenças da Córnea/classificação , Lactoferrina/metabolismo , Adulto , Idoso , Amiloidose/metabolismo , Amiloidose/patologia , Doenças da Córnea/metabolismo , Doenças da Córnea/patologia , Feminino , Humanos , Técnicas Imunoenzimáticas , Masculino , Microscopia , Microscopia de Polarização , Pessoa de Meia-Idade , Estudos RetrospectivosRESUMO
Introduction: With the increasing use of immune checkpoint inhibitors, ocular adverse events have gained attention. We describe a case of atypical keratitis presumably induced by atezolizumab, a programmed cell death ligand 1 inhibitor. Case Presentation: A 73-year-old Japanese woman developed ring-shaped marginal infiltrations with epithelial breakdown of the corneas in both eyes. The patient had advanced small cell lung cancer and had received intravenous carboplatin, etoposide, and atezolizumab. She was treated with topical administration of 0.1% sodium phosphate betamethasone and 0.5% moxifloxacin six times daily. On day 14 following initial presentation, marked reduction of bilateral corneal infiltration was observed. During the succeeding cycles of chemotherapy, marginal keratitis did not recur, and then, the topical steroid was gradually tapered. Conclusions: Cancer immunotherapy, including atezolizumab, may lead to active T-cell recruitment into the cornea, which result in autoimmune corneal keratitis. We believe that this report is informative to both ophthalmologists and oncologists involved in the treatment of patients receiving cancer immunotherapy.
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PURPOSE: The aim of this study was to report a case of Peters plus-like syndrome, which revealed to have an 8q21.11 microdeletion by copy number variation analysis using exome data. METHODS: A 6-month-old Japanese boy presented with bilateral corneal opacity since birth. The right eye maintained central corneal transparency with slightly inferior nasal and superior peripheral corneal opacities. The entire cornea was opacified in the left eye, particularly in the superior quadrants with vascularization, suggesting Peters anomaly. Identification of intraocular structures in the left eye was difficult; however, hypoplasia of the circumferential anterior iris stroma appeared bilaterally present, and no abnormalities were present in the posterior segment on funduscopic examination of the right eye and ultrasonography in the left eye. He had several facial malformations in addition to corneal opacity, but no other external abnormalities. General examination, including biochemical tests of blood and urine, physiological and imaging tests including abdominal echo, auditory brain stem response, brain computed tomography, and magnetic resonance imaging, showed no abnormalities. However, the patient showed intellectual disability and delayed motor development. RESULTS: Although his karyotype was normal, copy number variation analysis using exome data and subsequent quantitative polymerase chain reaction identified a de novo 4.6-Mb deletion at 8q21.11q21.13; thus, the patient was diagnosed with 8q21.11 microdeletion syndrome. CONCLUSIONS: We identified a de novo 4.6-Mb deletion at 8q21.11q21.13 in a patient with ophthalmic anterior segment dysgenesis and systemic complications, clinically diagnosed as Peters plus-like syndrome. Clinically, the 8q21.11 microdeletion syndrome shows a phenotype similar to that of Peters plus syndrome, and a genetic diagnosis is required.
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Opacidade da Córnea , Anormalidades do Olho , Masculino , Humanos , Variações do Número de Cópias de DNA , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Opacidade da Córnea/diagnóstico , Opacidade da Córnea/genética , Córnea/anormalidades , Segmento Anterior do Olho/diagnóstico por imagem , Segmento Anterior do Olho/anormalidades , SíndromeRESUMO
We report a 1-year-old girl with congenital stromal corneal dystrophy confirmed by genetic analysis. The ocular phenotype included diffuse opacity over the corneal stroma bilaterally. We performed a genetic analysis to provide counseling to the parents regarding the recurrence rate. Whole exome sequencing was performed on her and her parents, and a novel de novo variant, NM_001920.5: c.953del, p.(Asn318Thrfs*10), in the DCN gene was identified in the patient.
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We report here a case of fungal keratitis caused by Aspergillus viridinutans, a member of the genus which was found to have clinical and antifungal susceptibility characteristics distinct from the species it most closely resembles, Aspergillus fumigatus. A 26-year-old woman presented with contact lens-associated keratitis, the etiologic agent of which was initially slow growing and found to be resistant to amphotericin B and voriconazole. Therapeutic keratoplasty was performed and an isolate from a corneal scraping was identified as A. viridinutans through partial DNA sequencing of the ß-tubulin gene, along with its slow growth 42°C. In contrast with A. fumigatus, A. viridinutans proved to be resistant to a wider variety of antifungal agents. To the best of our knowledge, this is the first case of keratitis caused by A. viridinutans. Clinical isolates of the genus Aspergillus include rarely encountered species such as A. viridinutans. These species may show clinical manifestations distinct from those of A. fumigatus, including clinical resistance to amphotericin B and voriconazole and relatively low susceptibility to other antifungal agents.
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Antifúngicos/farmacologia , Aspergilose/microbiologia , Aspergillus/classificação , Ceratite/microbiologia , Adulto , Antifúngicos/uso terapêutico , Aspergilose/tratamento farmacológico , Aspergilose/patologia , Aspergillus/genética , Aspergillus/isolamento & purificação , Aspergillus/patogenicidade , Aspergillus fumigatus/classificação , Aspergillus fumigatus/genética , Infecções Oculares Fúngicas/tratamento farmacológico , Infecções Oculares Fúngicas/microbiologia , Infecções Oculares Fúngicas/patologia , Feminino , Humanos , Ceratite/tratamento farmacológico , Ceratite/patologia , Testes de Sensibilidade MicrobianaRESUMO
PURPOSE: To investigate the effectiveness of screening and subsequent intervention for age-related macular degeneration (AMD) in Japan. STUDY DESIGN: Best-case-scenario analysis using a Markov model. METHODS: The clinical effectiveness and cost-effectiveness of screening for AMD were assessed by calculating the reduction proportion of blindness and the incremental cost-effectiveness ratio (ICER). The Markov model simulation began at screening at the age of 40 years and ended at screening at the age of 90 years. The first-eye and second-eye combined model assumed annual state-transition probabilities in the development and treatment of AMD. Data on prevalence, morbidity, transition probability, utility value, and treatment costs were obtained from previously published reports. Sensitivity analysis was performed to assess the influence of the parameters. RESULTS: In the base-case analysis, screening for AMD every 5 years, beginning at age 40 years and ending at age 74 years (reflecting the screening ages of the current Japanese legal "Specific Health Checkups") showed a decrease of 40.7% in the total number of blind patients. The screening program reduced the number of blind people more than did the additional AREDS/AREDS2 formula supplement intake. However, the ICER of screening versus no screening was ¥9,846,411/QALY, which was beyond what people were willing to pay (WTP) in Japan. Sensitivity analysis revealed that neither OCT nor AI improved the ICER, but the scenario in which the prevalence of smoking decreased by 30% improved the ICER (¥4,655,601/QALY) to the level under the WTP. CONCLUSIONS: Ophthalmologic screening for AMD is highly effective in reducing blindness but is not cost-effective, as demonstrated by a Markov model based on real-world evidence from Japan.
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Degeneração Macular , Tomografia de Coerência Óptica , Adulto , Idoso , Idoso de 80 Anos ou mais , Inteligência Artificial , Análise Custo-Benefício , Humanos , Japão/epidemiologia , Degeneração Macular/diagnóstico , Degeneração Macular/epidemiologia , Cadeias de MarkovRESUMO
PURPOSE: Uncorrected refractive error (URE) is the leading cause of vision impairment and the second leading cause of blindness. It is a major public health challenge worldwide. However, the current status of URE in Japan is unclear. STUDY DESIGN: Cross-sectional study. METHODS: In 2012, a population-based cross-sectional study was conducted among community dwellers aged 40 years and older who received health check-ups in Minamiaizu and Tadami, Fukushima Prefecture, Japan. URE was considered when the presenting visual acuity in the better-seeing eye was < 0.5 and when visual acuity improved more than 1 line with refractive correction in the better-seeing eye. We estimated the age-specific prevalence of URE, and calculated the p-value for trend to examine the linear pattern of the association of the prevalence of URE and age. RESULTS: This analysis included 2952 participants. The mean age (standard deviation [SD]) of the study population was 69.10(9.67) years and 57.79% were women. The overall prevalence of URE was 10.90% (95% CI, 9.77-12.05%). Prevalence by age category was 5.00% (95% CI, 2.03-10.03%), 6.09% (95% CI, 3.59-9.58%), 7.02% (95% CI, 5.49-8.81%), 11.96% (95% CI, 10.15-13.97%), and 22.39% (95% CI, 18.41-26.78%) for 40-49 years, 50-59 years, 60-69 years, 70-79 years, and 80 years or older, respectively (p-for trend, < 0.001). CONCLUSIONS: The prevalence of URE was 10.9% and exceeded 20%, especially in individuals older than 80 years. Given the correlation between increasing incidence of URE and increase in age, public health intervention to promote awareness of URE is important, especially for the older population.
Assuntos
Óculos , Erros de Refração , Adulto , Idoso , Estudos de Coortes , Estudos Transversais , Feminino , Humanos , Japão/epidemiologia , Pessoa de Meia-Idade , Avaliação de Resultados em Cuidados de Saúde , Prevalência , Erros de Refração/epidemiologiaRESUMO
We aimed to evaluate the accuracy of glaucoma screening using fundus photography combined with optical coherence tomography and determine the agreement between ophthalmologists and ophthalmology residents. We used a comprehensive ophthalmologic examination dataset obtained from 503 cases (1006 eyes). Of the 1006 eyes, 132 had a confirmed glaucoma diagnosis. Overall, 24 doctors, comprising two groups (ophthalmologists and ophthalmology residents, 12 individuals/group), analyzed the data presented in three screening strategies as follows: (1) fundus photography alone, (2) fundus photography + optical coherence tomography, and (3) fundus photography + optical coherence tomography + comprehensive examination. We investigated the diagnostic accuracy (sensitivity and specificity). The respective sensitivity and specificity values for the diagnostic accuracy obtained by 24 doctors, 12 ophthalmologists, and 12 ophthalmology residents were as follows: (1) fundus photography: sensitivity, 55.4%, 55.4%, and 55.4%; specificity, 91.8%, 94.0%, and 89.6%; (2) fundus photography + OCT: sensitivity, 80.0%, 82.3%, and 77.8%; specificity, 91.7%, 92.9%, and 90.6%; and (3) fundus photography + OCT + comprehensive examination: sensitivity 78.4%, 79.8%, and 77.1%; specificity, 92.7%, 94.0%, and 91.3%. The diagnostic accuracy of glaucoma screening significantly increased with optical coherence tomography. Following its addition, ophthalmologists could more effectively improve the diagnostic accuracy than ophthalmology residents. Screening accuracy is improved when optical coherence tomography is added to fundus photography.
RESUMO
PURPOSE: To determine normal corneal eccentricity in a rural Japanese population and to examine factors associated with eccentricity value. METHODS: This used data from the Locomotive Syndrome and Health Outcome in Aizu Cohort Study (LOHAS) project between 2009 and 2012. Residents of Minamiaizu and Tadami in Fukushima, Japan, who were aged 40 years or over, were invited for a comprehensive eye examination. For 1371 patients with no history of internal eye surgery, corneal eccentricity was measured using a Pentacam. RESULTS: Of 1371 people recruited to the study, 1215 (1215 eyes) met the inclusion criteria. The overall mean eccentricity was 0.46 (SD = 0.18; range, -0.85 to 0.88). Corneal eccentricity was significantly associated with age, spherical equivalent, pupil diameter, anterior chamber angle, anterior chamber volume, and central corneal thickness, but not with gender or body mass index. CONCLUSIONS: In this study, the normal cornea in this Japanese population was prolate. Corneal eccentricity was likely to decrease with increasing age. Also, spherical equivalent and other anterior segment parameters had an influence on corneal eccentricity. Corneal eccentricity measurements might be helpful in the diagnosis of corneal diseases and in calculations for intraocular lens implantation and corneal refractive surgery.