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1.
Cureus ; 16(6): e62343, 2024 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-39011222

RESUMO

Aim To evaluate the clinical characteristics, treatment course, and prognosis of patients with acute retinal necrosis (ARN), which can rapidly progress and cause severe vision loss. Design Single-center retrospective case series. Subjects and methods Six patients and seven eyes diagnosed with ARN at Teikyo University Hospital were included in this study. The clinical presentation and treatment prognosis were investigated based on data obtained from medical records. Results The mean age of the patients at the initial diagnosis was 63.6 years. Although the mean Logarithm of the Minimum Angle of Resolution (LogMAR) visual acuity tended to decrease from 0.77 at the first visit to 1.29 at the last visit, the difference was not statistically significant. Intraocular manifestations observed during the study period included ocular hypertension (14.3%), anterior uveitis (100.0%), retinal hemorrhage (71.4%), vitreous opacity (100.0%), retinal exudative vasculitis (85.7%), optic nerve atrophy (85.7%), retinal vascular occlusion (85.7%), choroidal atrophy (85.7%), macular edema (100.0%), subretinal fluid in the macula (71.4%), and retinal detachment (85.7%). Treatment modalities included oral and intravitreal antivirals (85.7%), antiplatelet medications (85.7%), steroid eye drops (85.7%), subcapsular (57.1%) and vitreous (42.9%) steroid injections, oral steroids (71.4%), and surgical intervention (85.7%). Vitrectomy led to retinal recovery in all five eyes that underwent the procedure. Conclusions The visual prognosis of patients with ARN is poor, particularly in those with preexisting visual impairment. Early detection coupled with antiviral therapy and prompt surgical intervention have been identified as potential factors that influence visual outcomes. Given the severity of ARN, collecting data from multiple centers could aid in devising future diagnostic and therapeutic strategies.

2.
Am J Ophthalmol ; 264: 36-43, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38499139

RESUMO

PURPOSE: To clarify the genetic and clinical features of Japanese patients with ABCA4-associated retinopathy. DESIGN: Retrospective, multicenter cohort study. METHODS: Patients with retinal degeneration and biallelic ABCA4 variants were recruited from 13 different hospitals. Whole exome sequencing analysis was used for genetic testing. Comprehensive ophthalmic examinations were performed on matched patients. The primary outcome measure was identifying multimodal retinal imaging findings associated with disease progression. RESULTS: This study included 63 patients: 19 with missense/missense, 23 with missense/truncation, and 21 with truncation/truncation genotypes. In total, 62 variants were identified, including 29 novel variants. Six patients had a mild phenotype characterized by foveal-sparing or preserved foveal structure, including 4 with missense/missense and 2 with missense/truncation genotypes. The p.Arg212His variant was the most frequent in patients with mild phenotypes (4/12 alleles). Clinical findings showed a disease duration-dependent worsening of the phenotypic stage. Patients with the truncation/truncation genotype exhibited rapid retinal degeneration within a few years and definite fundus autofluorescence imaging patterns, including hyper autofluorescence at the macula and few or no flecks. CONCLUSIONS: Our results indicate that missense/missense or missense/truncation genotypes, including the p.Arg212His variant, are associated with a relatively mild phenotype. In contrast, the truncation/truncation genotype causes rapid and severe retinal degeneration in Japanese patients with ABCA4-associated retinopathy. These data are vital in predicting patient prognosis, guiding genetic counseling, and stratifying patients for future clinical trials.


Assuntos
Transportadores de Cassetes de Ligação de ATP , Angiofluoresceinografia , Tomografia de Coerência Óptica , Humanos , Masculino , Feminino , Estudos Retrospectivos , Transportadores de Cassetes de Ligação de ATP/genética , Japão/epidemiologia , Tomografia de Coerência Óptica/métodos , Adulto , Pessoa de Meia-Idade , Angiofluoresceinografia/métodos , Genótipo , Fenótipo , Adulto Jovem , Adolescente , Criança , Sequenciamento do Exoma , Acuidade Visual/fisiologia , Degeneração Retiniana/genética , Degeneração Retiniana/diagnóstico , Análise Mutacional de DNA , Mutação de Sentido Incorreto , Idoso , Povo Asiático/genética , Povo Asiático/etnologia , População do Leste Asiático
3.
Environ Sci Pollut Res Int ; 31(7): 10967-10975, 2024 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-38212562

RESUMO

PURPOSE: Air pollutants, such as Asian sand and particulate matter (PM) 2.5, have become a global concern for causing ocular inflammation and allergic symptoms. This study, as part of an international investigation, examined the effects of eyewashes for ocular damage caused by air pollution in Indonesia. METHODS: This was a single-center, patient- and-evaluator-blinded, parallel two-arm, nonrandomized trial. In Jakarta, Indonesia, 30 eyes of 15 car commuters and 30 eyes of 15 motorcycle commuters were recruited from healthy volunteers. After commuting to work, both eyes were washed with a commercial eyewash. Before and after eyewashing, eight items of ocular surface symptoms and four items of rhinitis subjective symptoms were scored using a modified Japanese Allergic Conjunctival Disease Quality-of-Life Questionnaire. RESULTS: Five of the 12 subjective symptom scores before eyewashing were higher in motorcycle commuters than in car commuters (p < 0.05). Motorcycle commuters showed improvement in the five symptom scores of "itchy eyes, foreign body sensation, eye mucus, dryness, and eye strain" after eyewashing compared to before eyewashing (p < 0.05). In all patients, sootlike particles and ocular mucus were found in the solutions collected after eyewashing. CONCLUSION: These findings indicate that eyewashing for ocular symptoms caused by airborne particles may be effective in removing foreign particles from the ocular surface and relieving subjective symptoms.


Assuntos
Poluentes Atmosféricos , Poluição do Ar , Humanos , Indonésia , Material Particulado/análise , Poluentes Atmosféricos/análise , Túnica Conjuntiva/química
4.
J Clin Med ; 12(11)2023 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-37297961

RESUMO

Anisometropic amblyopia is decreased visual acuity in one eye, and treatment consists of wearing complete corrective spectacles. Aniseikonia occurs with complete correction of anisometropia using spectacles. Aniseikonia has been ignored when treating pediatric anisometropic amblyopia because of the prevailing belief that anisometropic symptoms are suppressed by adaptation. However, the conventional direct comparison method for evaluating aniseikonia significantly underestimates the degree of aniseikonia. This study investigated whether the adaptation occurs due to long-term anisometropic amblyopia treatment in patients who have had successful amblyopia treatment using a spatial aniseikonia test with high accuracy and repeatability compared with the conventional direct comparison method. The amount of aniseikonia was not significantly different between the patients with successful amblyopia treatment and individuals with anisometropia without a history of amblyopia. In both groups, the aniseikonia per 1.00 D of anisometropia and the aniseikonia per 1.00 mm of aniso-axial length were comparable. The repeatability of the amount of aniseikonia using the spatial aniseikonia test did not differ significantly between the two groups, indicating a high degree of agreement. These findings suggest that aniseikonia is not adapted to amblyopia treatment and that aniseikonia increases as the difference between spherical equivalent and axial length increases.

5.
J Magn Reson Imaging ; 57(3): 845-853, 2023 03.
Artigo em Inglês | MEDLINE | ID: mdl-35838084

RESUMO

BACKGROUND: Visualization of aqueous humor flow in MR contrast images using gadolinium is challenging because of the delayed contrast effects associated with the blood-retinal and blood-aqueous humor barriers. However, oxygen-17 water (H2 17 O) might be used as an ocular contrast agent. PURPOSE: To observe the distribution of H2 17 O in the human eye, and its flow in and out of the anterior chamber, using dynamic T2-weighted MRI. STUDY TYPE: Prospective. POPULATION: Six ophthalmologically normal volunteers (20-37 years, six females). FIELD STRENGTH/SEQUENCE: A 3 T/dynamic T2-weighted MRI. ASSESSMENT: H2 17 O eye drops were administered to the right eye. Time-series images were created by subtracting the image before the eye drops from each of the images obtained after the eye drops. The normalized signal intensity of the right anterior chamber (nAC) was obtained by dividing the signal intensity of the right anterior chamber region by that of the left. The inflow and outflow constants of H2 17 O and H2 17 O concentration were calculated from the nAC. STATISTICAL TESTS: A paired t-test was used to compare the flow-related values and temporal changes in signal intensity. P-values < 0.05 were considered statistically significant. RESULTS: Significantly decreased signal intensity was observed in the right anterior chamber but not the right vitreous body (P = 0.39). The nAC signal intensity decreased significantly and then recovered. The inflow and outflow constants were 0.36-0.94 min-1 and 0.023-0.13 min-1 , respectively. The maximum H2 17 O concentration was 0.078%-0.24%. DATA CONCLUSION: H2 17 O were distributed in the anterior chamber. The H2 17 O inflow into the anterior chamber was significantly faster than that of the outflow. LEVEL OF EVIDENCE: 2 TECHNICAL EFFICACY STAGE: 2.


Assuntos
Humor Aquoso , Movimentos da Água , Feminino , Humanos , Soluções Oftálmicas , Estudos Prospectivos , Imageamento por Ressonância Magnética/métodos
6.
Clin Optom (Auckl) ; 14: 215-221, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36329953

RESUMO

Purpose: Asian dust poses a serious global health hazard. Airborne particles adhering to contact lenses may cause substantial damage to the ocular surface. The recently released one-day disposable silicone hydrogel soft contact lens (SCL), the verofilcon A, has a smooth surface with SMARTSURFACE® technology, which is designed to prevent adhesion of protein components and foreign bodies. The purpose of this study was to verify the protective quality of verofilcon A SCL against adhesion of Asian dust particles to its surface. Methods: Verofilcon A and etafilcon A (control lens) SCLs were used (n=16 per group), and 0.2 mL of physiological saline containing 0.01 mg/mL of Asian dust particles was dropped on the surface of SCLs, allowed to stand for 1 hour, shaken for 1 minute, and rinsed three times with saline (after rinsing). In addition, the samples were agitated by a vortex mixer for 1 minute and rinsed three times with saline (after vortex). The number of Asian dust particles adhering to the SCLs and percentage of the surface area occupied by the Asian dust particles was determined before washing, after rinsing, and after vortexing. Results: The number of adherent Asian dust particles was lower on verofilcon A SCL (297 ± 116 after rinsing, and 5 ± 14 after vortexing) than on etafilcon A SCL (523 ± 212 after rinsing, p=0.003, and 378 ± 268 after vortexing, p<0.001). The Asian dust adhesion area was also lower on verofilcon A SCL (3.6 ± 2.3% after rinsing and 0.0 ± 0.1% after vortexing than on etafilcon A (10.2 ± 2.1% after rinsing, p=0.002, and 5.2 ± 3.0% after vortexing, p<0.001). Conclusion: These findings indicate that verofilcon A SCL has the property of low adhesion of Asian dust particles. Verofilcon A SCL can be recommended for SCL wearers during windy and Asian dust days.

7.
J Clin Med ; 11(21)2022 Oct 29.
Artigo em Inglês | MEDLINE | ID: mdl-36362633

RESUMO

Purpose: The purpose of this study was to determine the effect of brilliant blue G (BBG) staining of the inner limiting membrane (ILM) on macular function. Method: Fourteen eyes of 14 patients consisting of 9 men and 5 women who underwent vitreous surgery with ILM peeling were studied. The mean age of the patients was 68.8 ± 9.14 years. Three eyes had a macular hole and eleven eyes had an epiretinal membrane. The ILM was made more visible by spraying 0.25% BBG into the vitreous cavity. The macular function was assessed by recording intraoperative focal macular electroretinograms (iFMERGs) before and after the intravitreal spraying of the BBG dye. The iFMERGs were recorded three times after core vitrectomy. The first recording was performed before the BBG injection (Phase 1, baseline), the second recording was performed after the spraying of the BBG and washing out the excess BBG (Phase 2), and the third recording was performed after the ILM peeling (Phase 3). All recordings were performed after 5 min of light-adaptation and stabilization of the intraocular conditions. The iFMERGs were recorded twice at each phase. The implicit times and amplitudes of the a- and b-wave, the PhNR, and the d-wave were measured. Wilcoxon signed-rank test were used to determine the significance of differences of the findings at Phase 2 vs. Phase 1 and Phase 3 vs. Phase 1. A p value < 0.05 was taken to be statistically significant. Results: The average implicit times of the a-wave, b-wave, PhNR, and d-wave were not significantly different in Phase 1, 2, and 3. The average a-wave, b-wave, PhNR, and d-wave amplitudes at Phase 1 did not differ significantly from that at Phase 2 and at Phase 3. Conclusions: The results indicated that the intravitreal injection of BBG does not alter the physiology of the macula, and we conclude that BBG is safe. We also conclude that iFMERGs can be used to monitor the macular function safely during intraocular surgery.

8.
Hum Mutat ; 43(12): 2251-2264, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-36284460

RESUMO

Inherited retinal diseases (IRDs) comprise a phenotypically and genetically heterogeneous group of ocular disorders that cause visual loss via progressive retinal degeneration. Here, we report the genetic characterization of 1210 IRD pedigrees enrolled through the Japan Eye Genetic Consortium and analyzed by whole exome sequencing. The most common phenotype was retinitis pigmentosa (RP, 43%), followed by macular dystrophy/cone- or cone-rod dystrophy (MD/CORD, 13%). In total, 67 causal genes were identified in 37% (448/1210) of the pedigrees. The first and second most frequently mutated genes were EYS and RP1, associated primarily with autosomal recessive (ar) RP, and RP and arMD/CORD, respectively. Examinations of variant frequency in total and by phenotype showed high accountability of a frequent EYS missense variant (c.2528G>A). In addition to the two known EYS founder mutations (c.4957dupA and c.8805C>G) of arRP, we observed a frequent RP1 variant (c.5797C>T) in patients with arMD/CORD.


Assuntos
Distrofias de Cones e Bastonetes , Degeneração Macular , Doenças Retinianas , Humanos , Sequenciamento do Exoma , Proteínas do Olho/genética , População do Leste Asiático , Mutação , Linhagem , Distrofias de Cones e Bastonetes/diagnóstico , Distrofias de Cones e Bastonetes/genética , Doenças Retinianas/genética , Degeneração Macular/genética , Análise Mutacional de DNA
9.
Sci Rep ; 12(1): 8501, 2022 05 19.
Artigo em Inglês | MEDLINE | ID: mdl-35589979

RESUMO

In the evaluation of smooth pursuit eye movements (SPEMs), recording the stimulus onset time is mandatory. In the laboratory, the stimulus onset time is recorded by electrical signal or programming, and video-oculography (VOG) and the visual stimulus are synchronized. Nevertheless, because the examiner must manually move the fixation target, recording the stimulus onset time is challenging in daily clinical practice. Thus, this study aimed to develop an algorithm for evaluating SPEMs while testing the nine-direction eye movements without recording the stimulus onset time using VOG and deep learning-based object detection (single-shot multibox detector), which can predict the location and types of objects in a single image. The algorithm of peak fitting-based detection correctly classified the directions of target orientation and calculated the latencies and gains within the normal range while testing the nine-direction eye movements in healthy individuals. These findings suggest that the algorithm of peak fitting-based detection has sufficient accuracy for the automatic evaluation of SPEM in clinical settings.


Assuntos
Movimentos Oculares , Acompanhamento Ocular Uniforme , Humanos , Estimulação Luminosa
10.
J Clin Med ; 11(7)2022 Apr 06.
Artigo em Inglês | MEDLINE | ID: mdl-35407660

RESUMO

Vitreous temperature has been reported to vary during intraocular surgery. We measured the temperature at three intraocular sites, just posterior to the crystalline lens (BL), mid-vitreous (MV), and just anterior to the optic disc (OD), and investigated temperature changes before and after different types of surgical procedures in 78 eyes. The mean temperature at the beginning was 30.1 ± 1.70 °C in the anterior chamber, 32.4 ± 1.41 °C at the BL, 33.8 ± 0.95 °C at the MV, and 34.7 ± 0.95 °C at the OD. It was lowest at the BL, and highest at the OD. The mean temperature after cataract surgery was slightly lower especially at an anterior location. Thus, the temperature gradient became slightly flatter. The mean temperature after core vitrectomy was even lower at all sites and a gradient of the temperature was not present. The mean temperature after membrane peeling was significantly higher than that after core vitrectomy, and there was no gradient. The mean temperature after fluid/air exchange was lower at the BL and higher at the MV and at the OD. Thus, a gradient of higher temperatures at the OD appeared. The intraocular temperature distribution is different depending on the surgical procedure which can then change the temperature gradient. The temperature changes at the different intraocular sites and the gradients should be further investigated because they may affect the physiology of the retina and the recovery process.

11.
Int Ophthalmol ; 42(8): 2599-2607, 2022 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-35366136

RESUMO

PURPOSE: To determine the area of the surface foveal avascular zone (FAZ) in children with posterior microphthalmos (PM), high hyperopia, and normal eyes using optical coherence tomography (OCT) and OCT angiography (OCTA). METHODS: Thirty-six children were studied including 6 cases 12 eyes of PM (mean age 9.5 ± 5.2 years), 15 cases 30 eyes of high hyperopia (6.9 ± 1.5 years), and 15 cases 30 eyes of healthy individuals (8.7 ± 1.7 years). The B- and C-scan images in all children were recorded by OCT and OCTA with a scanning area of 3.0 × 3.0 mm centered on the fovea. All images were corrected for axial length differences, and the area of the FAZ surface and central macular thickness (CMT) was measured manually and compared. RESULTS: The area of FAZ in the PM group was 0.007 ± 0.003 mm2, which was significantly smaller than that in the high hyperopia eyes at 0.286 ± 0.108 mm2 and healthy eyes at 0.318 ± 0.129 mm2 (both P < 0.001). The CMT in the PM group was 401.58 ± 33.60 mm, which was significantly thicker than in the high hyperopia eyes at 202.93 ± 12.28 mm and the normal eyes at 204.43 ± 18.76 mm. The area of the FAZ and CMT in the hyperopia group did not differ significantly from that of the normal healthy eyes. CONCLUSION: These findings indicate that patients with PM have a hypoplastic macular region, which must be considered in any treatment of these eyes.


Assuntos
Hiperopia , Microftalmia , Adolescente , Criança , Pré-Escolar , Oftalmopatias Hereditárias , Angiofluoresceinografia/métodos , Fóvea Central/irrigação sanguínea , Humanos , Hiperopia/diagnóstico , Microftalmia/diagnóstico , Vasos Retinianos , Tomografia de Coerência Óptica/métodos , Acuidade Visual
12.
Genes (Basel) ; 12(11)2021 11 18.
Artigo em Inglês | MEDLINE | ID: mdl-34828423

RESUMO

Peripherin-2 (PRPH2) is one of the causative genes of inherited retinal dystrophy. While the gene is relatively common in Caucasians, reports from Asian ethnicities are limited. In the present study, we report 40 Japanese patients from 30 families with PRPH2-associated retinal dystrophy. We identified 17 distinct pathogenic or likely pathogenic variants using next-generation sequencing. Variants p.R142W and p.V200E were relatively common in the cohort. The age of onset was generally in the 40's; however, some patients had earlier onset (age: 5 years). Visual acuity of the patients ranged from hand motion to 1.5 (Snellen equivalent 20/13). The patients showed variable phenotypes such as retinitis pigmentosa, cone-rod dystrophy, and macular dystrophy. Additionally, intrafamilial phenotypic variability was observed. Choroidal neovascularization was observed in three eyes of two patients with retinitis pigmentosa. The results demonstrate the genotypic and phenotypic variations of the disease in the Asian cohort.


Assuntos
Periferinas/genética , Fenótipo , Distrofias Retinianas/genética , Adulto , Idoso , Feminino , Frequência do Gene , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Distrofias Retinianas/patologia
13.
J Clin Med ; 10(15)2021 Jul 31.
Artigo em Inglês | MEDLINE | ID: mdl-34362195

RESUMO

The temperature of the vitreous has been reported to vary during cataract and vitreous surgery. We measured intraocular temperature at four intraocular sites; the anterior chamber (AC), just behind the crystalline lens, mid-vitreous, and just anterior to the optic disc (OD) at the beginning of vitrectomy with a thermoprobe in 48 eyes. The temperatures were compared in three groups; eyes that underwent vitrectomy for the first time (Group V, n = 30), eyes that had previous vitrectomy and the vitreous cavity had been filled with balanced salt solution (BSS; Group A, n = 12), and eyes that had previous vitrectomy and the vitreous cavity was filled with silicone oil (Group S, n = 6). There was a gradient in the temperature in all groups, i.e., it was lowest in the AC, and it increased at points closer to the retina. The intraocular temperature was significantly correlated with the type of fluid in the vitreous cavity. The mean intraocular temperatures were not significantly different in Groups V and A, but they were significantly higher in Group S. Clinicians should be aware of the differences in the temperature at the different intraocular sites because the temperatures may affect the physiology of the retina and the recovery process.

14.
Transl Vis Sci Technol ; 10(6): 1, 2021 05 03.
Artigo em Inglês | MEDLINE | ID: mdl-34111248

RESUMO

Purpose: To accurately record the movements of a hand-held target together with the smooth pursuit eye movements (SPEMs) elicited with video-oculography (VOG) combined with deep learning-based object detection using a single-shot multibox detector (SSD). Methods: The SPEMs of 11 healthy volunteers (21.3 ± 0.9 years) were recorded using VOG. The subjects fixated on a moving target that was manually moved at a distance of 1 m by the examiner. An automatic recording system was developed using SSD to predict the type and location of objects in a single image. The 400 images that were taken of one subject using a VOG scene camera were distributed into 2 groups (300 and 100) for training and validation. The testing data included 1100 images of all subjects (100 images/subject). The method achieved 75% average precision (AP75) for the relationship between the location of the fixated target (as calculated by SSD) and the position of each eye (as recorded by VOG). Results: The AP75 for all subjects was 99.7% ± 0.6%. The horizontal and vertical target locations were significantly and positively correlated with each eye position in the horizontal and vertical directions (adjusted R2 ≥ 0.955, P < 0.001). Conclusions: The addition of SSD-driven recording of hand-held target positions with VOG allows for quantitative assessment of SPEMs following a target during an SPEM test. Translational Relevance: The combined methods of VOG and SSD can be used to detect SPEMs with greater accuracy, which can improve the outcome of clinical evaluations.


Assuntos
Meios de Comunicação , Aprendizado Profundo , Movimentos Oculares , Humanos , Acompanhamento Ocular Uniforme
15.
Clin Optom (Auckl) ; 13: 93-101, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33790684

RESUMO

PURPOSE: Pollen and proteins attached to soft contact lenses (SCLs) exacerbate allergic conjunctivitis. The material of SCLs may affect the pollen adhesion to the SCLs. The factors associated with the number of pollen particles that are adherent to daily disposable SCL were investigated. METHODS: Pollen particles were experimentally exposed to the contact lens surface of 12 types of SCLs for 1 hour, and the SCLs were washed and rinsed with a physiological saline (n=10 for each SCL type). A total of 120 contact lenses were used in this study. The pollen particles attached to the SCL were observed and photographed under a microscope. The influence of the materials of the SCLs on the degree of pollen adhesion were investigated. RESULTS: The number of residual pollen particles attached to SCLs was in the range from 0-293/area of 200×200 µm. Percentage of pollen adhesion area of the surface of the SCL was in the range from 0.01% to 3.25%. There were significant differences in both the number and adhesion area of pollen particles among the 12 types of SCLs tested (P<0.0001 and P<0.0001, respectively). The number of pollen particles adhered to SCLs was significantly higher in colored SCLs than clear SCLs (unpaired t-test, p<0.001). The portion of pollen adhesion area was the lowest in the silicone hydrogel SCLs made with delefilcon-A (0.01 ± 0.02%). CONCLUSION: Pollen adhesion in daily disposable SCLs depends on the characteristics and materials of the SCLs and was high in colored SCLs and lowest in delefilcon-A silicone hydrogel SCL. These results suggest that colored SCLs are not preferred during pollen season.

16.
Am J Ophthalmol Case Rep ; 20: 100908, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33251374

RESUMO

PURPOSE: To report clinical course of a patient with cancer-associated retinopathy (CAR) medicated by steroid therapy, focusing on retinal degeneration progression. OBSERVATIONS: A 67 years-old female patient, who had a surgical history of endometrial carcinoma with adjuvant chemotherapy, was referred to our hospitals for the complaints of sudden reduced visual acuity and visual field constriction in the right eye. Best corrected visual acuity (BCVA) was 0.4 and 1.0 in right and left eyes, respectively. Funduscopy showed almost normal appearance in both eyes. Fluorescein angiography showed slight fluorescein leakage from the optic disc in both eyes and an inferior arcade vessel in the right eye. Optical coherence tomography (OCT) images showed loss of ellipsoid zone (EZ) and thinning of outer retinal layers at the nasal area of the fovea in both eyes. Goldmann perimetry (GP) demonstrated several paracentral absolute scotomas with peripheral visual field constriction in the right eye, and a paracentral relative scotoma with preserved peripheral visual field in the left eye. Ten months after the first visit, retinopathy progressed in both eyes. Funduscopy indicated mild retinal degeneration along with arcade veins with white sheathing of retinal arteries. Slightly visible EZ at the fovea and loss of EZ and interdigitation zone and thinning of outer retinal layers at other areas were observed in OCT images from both eyes. GP showed no response in both eyes. Oral prednisolone therapy was started and gradually tapered over a 3-month period. Twelve and fifteen months after the first visit, BCVA, EZ at the fovea in OCT images, and visual field gradually improved, whereas retinal degeneration along arcade veins became apparent. CONCLUSIONS AND IMPORTANCE: We reported a patient with CAR who exhibited progressive retinal degeneration and good response to oral prednisolone therapy. This case expands the clinical spectrum of CAR.

17.
Am J Med Genet C Semin Med Genet ; 184(3): 675-693, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32875684

RESUMO

The retinitis pigmentosa 2 (RP2) gene is one of the causative genes for X-linked inherited retinal disorder. We characterized the clinical/genetic features of four patients with RP2-associated retinal disorder (RP2-RD) from four Japanese families in a nationwide cohort. A systematic review of RP2-RD in the Japanese population was also performed. All four patients were clinically diagnosed with retinitis pigmentosa (RP). The mean age at examination was 36.5 (10-47) years, and the mean visual acuity in the right/left eye was 1.40 (0.52-2.0)/1.10 (0.52-1.7) in the logarithm of the minimum angle of resolution unit, respectively. Three patients showed extensive retinal atrophy with macular involvement, and one had central retinal atrophy. Four RP2 variants were identified, including two novel missense (p.Ser6Phe, p.Leu189Pro) and two previously reported truncating variants (p.Arg120Ter, p.Glu269CysfsTer3). The phenotypes of two patients with truncating variants were more severe than the phenotypes of two patients with missense variants. A systematic review revealed additional 11 variants, including three missense and eight deleterious (null) variants, and a statistically significant association between phenotype severity and genotype severity was revealed. The clinical and genetic spectrum of RP2-RD was illustrated in the Japanese population, identifying the characteristic features of a severe form of RP with early macular involvement.


Assuntos
Proteínas de Ligação ao GTP/genética , Proteínas de Membrana/genética , Retina/patologia , Doenças Retinianas/genética , Acuidade Visual/genética , Adolescente , Adulto , Criança , Feminino , Estudos de Associação Genética , Humanos , Japão/epidemiologia , Masculino , Pessoa de Meia-Idade , Retina/diagnóstico por imagem , Doenças Retinianas/diagnóstico , Doenças Retinianas/epidemiologia , Doenças Retinianas/patologia , Adulto Jovem
18.
Sci Rep ; 10(1): 15883, 2020 09 28.
Artigo em Inglês | MEDLINE | ID: mdl-32985515

RESUMO

Choroideremia (CHM) is an incurable progressive chorioretinal dystrophy. Little is known about the natural disease course of visual acuity in the Japanese population. We aimed to investigate the genetic spectrum of the CHM gene and visual acuity outcomes in 24 CHM patients from 16 Japanese families. We measured decimal best-corrected visual acuity (BCVA) at presentation and follow-up, converted to logMAR units for statistical analysis. Sanger and/or whole-exome sequencing were performed to identify pathogenic CHM variants/deletions. The median age at presentation was 37.0 years (range, 5-76 years). The mean follow-up interval was 8.2 years. BCVA of the better-seeing eye at presentation was significantly worsened with increasing age (r = 0.515, p < 0.01), with a high rate of BCVA decline in patients > 40 years old. A Kaplan-Meier survival curve suggested that a BCVA of Snellen equivalent 20/40 at follow-up remains until the fifties. Fourteen pathogenic variants, 6 of which were novel [c.49 + 5G > A, c.116 + 5G > A, p.(Gly176Glu, Glu177Ter), p.Tyr531Ter, an exon 2 deletion, and a 5.0-Mb deletion], were identified in 15 families. No variant was found in one family only. Our BCVA outcome data are useful for predicting visual prognosis and determining the timing of intervention in Japanese patients with CHM variants.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Coroideremia/genética , Acuidade Visual/genética , Adolescente , Adulto , Fatores Etários , Idoso , Criança , Pré-Escolar , Coroideremia/fisiopatologia , Progressão da Doença , Feminino , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Linhagem , Tomografia de Coerência Óptica , Testes de Campo Visual , Sequenciamento do Exoma , Adulto Jovem
19.
Clin Optom (Auckl) ; 12: 123-128, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32904467

RESUMO

PURPOSE: It has been proven that wearing soft contact lenses (SCLs) can make pollen-induced allergic conjunctivitis worse. We investigated the cleaning effect of disinfectants and rinsing solution on cedar pollen attached to SCLs. METHODS: Two-week replacement disposable SCLs, to which pollen particles were experimentally attached, were washed and cleaned with either saline of rinsing solution (n = 10) or 3% hydrogen peroxide (n = 10). We observed, under a microscope, the cedar pollen adhered to the SCLs after washing. RESULTS: The number of residual pollens attached to SCLs was 23.7 ± 25.7 with rinsing solution and 0.2 ± 0.6 with 3% hydrogen peroxide solution per single area (100 µm × 100 µm). The percentage of adhesion area of pollen to the SCLs was 0.9 ± 1.1% with rinsing solution and 0.0 ± 0.0% with 3% hydrogen peroxide solution. There were significant differences in the number of pollen and adhesion areas of pollen between the two groups (p < 0.05 and p < 0.05, respectively). CONCLUSION: These results suggest that hydrogen peroxide solution is superior in cleaning effect of cedar pollen attached to SCLs compared to saline.

20.
Transl Vis Sci Technol ; 9(9): 10, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32879766

RESUMO

Purpose: Intravitreal injections of antivascular endothelial growth factor agents are widely performed, and subsequent intraocular pressure increase may cause retinal nerve fiber damage. This study aimed to determine the effects of paracentesis before intravitreal injection of an antivascular endothelial growth factor on electroretinograms. Methods: This was a retrospective observational study in a university hospital. Twenty-five eyes of 25 patients who underwent intravitreal injections of antivascular endothelial growth factor agents were selected for evaluation. Intraocular pressures and electroretinograms were recorded before surgery (baseline), after anterior chamber paracentesis, and after intravitreal injection. The amplitudes and latencies of the a- and b-waves, photopic negative response, and oscillatory potential were measured. Changes in each component of the electroretinograms, intraocular pressure, and relationships between these two factors were investigated. The preoperative and postoperative ocular perfusion pressure was calculated based on blood pressure. Results: The amplitudes of the b-waves were significantly smaller after intravitreal injection than at baseline (P = 0.02), while no significant change was found in the other components during surgery. There were no significant changes in the latencies of any component during surgery. The intraocular pressure was significantly lower (P < 0.001) after anterior chamber paracentesis (6.8 ± 4.3 mm Hg) compared to baseline (24.1 ± 8.1 mm Hg) or after intravitreal injection (17.1 ± 9.6 mm Hg; P < 0.001). Conclusions: Performing anterior chamber paracentesis before an intravitreal injection can prevent the intraocular pressure elevation and thus minimize the electrophysiological retinal dysfunction. Translational Relevance: Anterior chamber paracentesis before an intravitreal injection mitigates the adverse effects on retinal function.


Assuntos
Pressão Intraocular , Paracentese , Inibidores da Angiogênese/uso terapêutico , Humanos , Injeções Intravítreas , Tonometria Ocular
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