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1.
BMC Med Genet ; 20(1): 196, 2019 12 16.
Artigo em Inglês | MEDLINE | ID: mdl-31842807

RESUMO

BACKGROUND: Congenital cataract is a clinically and genetically heterogeneous visual impairment. The aim of this study was to identify causative mutations in five unrelated Chinese families diagnosed with congenital cataracts. METHODS: Detailed family history and clinical data were collected, and ophthalmological examinations were performed using slit-lamp photography. Genomic DNA was extracted from peripheral blood of all available members. Thirty-eight genes associated with cataract were captured and sequenced in 5 typical nonsyndromic congenital cataract probands by targeted next-generation sequencing (NGS), and the results were confirmed by Sanger sequencing. Bioinformatics analysis was performed to predict the functional effect of mutant genes. RESULTS: Results from the DNA sequencing revealed five potential causative mutations: c.154 T > C(p.F52 L) in GJA8 of Family 1, c.1152_1153insG(p.S385Efs*83) in GJA3 of Family 2, c.1804 G > C(p.G602R) in BFSP1 of Family 3, c.1532C > T(p.T511 M) in EPHA2 of Family 4 and c.356G > A(p.R119H) in HSF4 of Family 5. These mutations co-segregated with all affected individuals in the families and were not found in unaffected family members nor in 50 controls. Bioinformatics analysis from several prediction tools supported the possible pathogenicity of these mutations. CONCLUSIONS: In this study, we identified five novel mutations (c.154 T > C in GJA8, c.1152_1153insG in GJA3, c.1804G > C in BFSP1, c.1532C > T in EPHA2, c.356G > A in HSF4) in five Chinese families with hereditary cataracts, respectively. NGS can be used as an effective tool for molecular diagnosis of genetically heterogeneous disorders such as congenital cataract, and the results can provide more effective clinical diagnosis and genetic counseling for the five families.


Assuntos
Catarata/congênito , Catarata/genética , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Mutação , Catarata/fisiopatologia , China , Biologia Computacional , Feminino , Humanos , Masculino , Linhagem , Facoemulsificação , Acuidade Visual
2.
BMC Ophthalmol ; 19(1): 169, 2019 Aug 03.
Artigo em Inglês | MEDLINE | ID: mdl-31376834

RESUMO

BACKGROUND: Accurate alignment of toric intraocular lens (TIOL) to steep corneal astigmatic axis is important to achieve effective postoperative results. The authors compare the accuracy of astigmatism correction using automated and manual marking in TIOL implantation during cataract surgery. METHODS: One hundred thirty-two eyes with nuclear density from Grade 2 to 4 were randomly subdivided into 2 groups (automated and manual marking). All patients underwent manual marking and the steep axis was compared to SensoMotoric Instruments (SMI). After phacoemulsification, 62 patients underwent toric IOL implantation using the SMI and 70 patients underwent toric IOL implantation using manual marking. Intraoperative measurement was the steep axis difference. Clinical measurements included preoperative and postoperative best corrected visual acuity (BCVA), and TIOL axis. RESULTS: The intraoperative steep axis difference between SMI and manual marking was 7.86 ± 6.4 degrees. The difference between the preoperative steep axis and the postoperative TIOL axis using SMI (3.63 ± 1.12 degrees) was significantly lower than that using manual marking (8.29 ± 2.23 degrees) (P < 0.05). CONCLUSIONS: The steep axis measurements may be different when using SMI vs. manual marking. The SMI is more accurate than manual marking for TIOL implantation during cataract surgery. TRIAL REGISTRATION: Current Controlled Trials ISRCTN12294725 , Retrospectively registered, on 20 July 2018.


Assuntos
Automação/métodos , Catarata/fisiopatologia , Lentes Intraoculares , Cuidados Pré-Operatórios/métodos , Refração Ocular/fisiologia , Acuidade Visual , Biometria/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Desenho de Prótese
3.
Invest Ophthalmol Vis Sci ; 60(10): 3652-3658, 2019 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-31469405

RESUMO

Purpose: To investigate visual function in eyes with three subtypes of waterclefts (WCs). Methods: Of patients in Kanazawa Medical University Hospital (2013-2017) and participants of Monzen Eye Study (2013-2016), 77 transparent lenses, mean age 66.7 years, and 70 eyes with only WC opacity of 70 patients, mean age 68.1 years, divided into peripheral-, central-, and total-type WC groups, were analyzed. Opacity was classified by one ophthalmologist using slit-lamp microscopy. Corrected-distance visual acuity (CDVA), contrast visual acuity (CVA), spherical equivalent (SE), astigmatism values, corneal refractive power (CP), axial length (AL), straylight, backward light scattering (BLS), and higher order aberrations (HOA) were measured and lenticular refractive power (LP) was calculated based on the values of AL, CP, and SE. Results: Central-type WC showed significant decrease in CDVA and CVA and increase in straylight compared with control. Total-type WC showed significant decreases in CDVA, CVA, and LP, and increase in straylight, compared with control and peripheral-type WC. Total- and central-type WCs had significantly higher ocular total HOA and total-type WC had significantly higher internal total HOA than control. HOA correlated positively with CDVA (P < 0.001) and straylight (P = 0.020), and CDVA negatively with straylight in eyes with WCs (P = 0.008). Conclusions: Total-type WC was associated with decreased LP, causing hyperopia, decreased CDVA and higher straylight; thus, such lenticular change should be considered for surgery indication. Significant correlations between HOA and both CDVA and straylight suggested increased HOA may decrease visual function in eyes with WCs.


Assuntos
Catarata/fisiopatologia , Cristalino/fisiopatologia , Transtornos da Visão/fisiopatologia , Acuidade Visual/fisiologia , Idoso , Catarata/classificação , Feminino , Ofuscação , Humanos , Luz , Masculino , Pessoa de Meia-Idade , Espalhamento de Radiação
4.
Indian Pediatr ; 56(7): 603-605, 2019 07 15.
Artigo em Inglês | MEDLINE | ID: mdl-31333218

RESUMO

BACKGROUND: Vici syndrome is a neurodevelopmental disorder of the autophagy pathway. Almost all cases reported have the cardinal features of agenesis of corpus callosum, cataract, cardiomyopathy, immunodeficiency and hypopigmentation. CASE CHARACTERISTICS: 8-month-old boy with developmental delay, myoclonic jerks, repeated respiratory infections, coarse facial features, cataract and hypopigmented hair. Echocardiography revealed dilated cardiomyopathy and magnetic resonance imaging of brain suggested agenesis of corpus callosum. Exome sequencing detected a novel homozygous nonsense mutation in the EPG5 gene. OUTCOME: Establishing a definite diagnosis helped in proper prognostication, providing genetic counseling and prenatal diagnosis to the family. MESSAGE: Though uncommon, presence of the characteristic features makes Vici syndrome a clinically recognizable cause of developmental delay.


Assuntos
Agenesia do Corpo Caloso , Proteínas Relacionadas à Autofagia/genética , Encéfalo/diagnóstico por imagem , Catarata , Deficiências do Desenvolvimento , Doenças por Armazenamento dos Lisossomos/diagnóstico , Proteínas de Transporte Vesicular/genética , Assistência ao Convalescente/métodos , Agenesia do Corpo Caloso/diagnóstico , Agenesia do Corpo Caloso/genética , Agenesia do Corpo Caloso/fisiopatologia , Catarata/diagnóstico , Catarata/genética , Catarata/fisiopatologia , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico , Deficiências do Desenvolvimento/genética , Diagnóstico Diferencial , Testes Genéticos , Humanos , Síndromes de Imunodeficiência/diagnóstico , Lactente , Imagem por Ressonância Magnética/métodos , Masculino , Mutação , Irmãos
5.
Biomed Res Int ; 2019: 6425040, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31346522

RESUMO

The number of presbyopia correcting intraocular lenses (IOLs) is increasing and new technologies are constantly emerging with the aim of correcting the loss of accommodation after cataract surgery. Various optical designs have been proposed to implement multifocality or an extended depth of focus (EDOF). Depending on the optical principle of an implanted lens, the visual performance often is deteriorated by superposition of individual image planes and halos of varying intensity. This experimental study presents a concept to visualize the light fields and especially the halos of mono- and multifocal IOLs using the well known alcoholic beverage "ouzo" in order to obtain qualitative data on the imaging characteristics. We conclude that ouzo is a useful, cost effective, and nonpolluting medium for beam visualization and an alternative to fluorescein or milk, which could find an application for educational purposes.


Assuntos
Acomodação Ocular/fisiologia , Extração de Catarata/métodos , Catarata/terapia , Lentes Intraoculares Multifocais , Catarata/fisiopatologia , Humanos , Luz , Óptica e Fotônica/métodos , Visão Ocular/fisiologia , Acuidade Visual/fisiologia
6.
Biomed Res Int ; 2019: 7472195, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31341905

RESUMO

Purpose: To investigate the mechanisms underlying the occurrence of acute angle closure (AAC) and to further explore the sensitive indicators for clinical diagnosis of acute angle closure secondary to lens subluxation (AACSLS) through qualitative and quantitative analysis of ultrasound biomicroscopy (UBM) imaging features of eyes with AAC to provide a theoretical basis for the selection of treatment schemes. Methods: A retrospective analysis was conducted from 2013 to 2018 on 160 eyes (160 patients) with uniocular acute angle closure crisis (AACC) complicated by cataract. The case group consisted of 29 eyes (29 patients) with lens subluxation and the control group consisted of 131 eyes (131 patients) without lens subluxation. Before the operation, computer optometry, best corrected visual acuity, intraocular pressure, slit lamp, gonioscopy, preset lens, A-mode ultrasonography, and UBM were performed. All the enrolled subjects underwent cataract surgery with or without other operations. The pupil was fully dilated, and the position of the lens was recorded before the operation. The zonular rupture and lens subluxation were further confirmed during operation. SPSS version 20.0 was used to analyze UBM imaging data from the lens subluxation group and non-lens subluxation group. Results: The iris span (IS) value in the whole quadrant of the lens subluxation group was significantly higher than that of the non-lens subluxation group (P=0.033, 95%CI 0.01 to 0.31). The iris lens angle (ILA) in the lens subluxation group was significantly lower than that in the non-lens subluxation group in the upper, lower, nasal, temporal, and whole quadrants (P<0.001, 95%CI -8.79 to -2.78; P=0.001, 95%CI -8.36 to -2.27; P<0.001, 95%CI -9.85 to -4.98; P=0.015, 95%CI -6.67 to -0.72; P<0.001, 95%CI -8.74 to -5.83, respectively). However, the ILA of the maximum difference among the four quadrants in the lens subluxation group was significantly higher than that in the non-lens subluxation group (P<0.001, 95%CI 4.74 to 9.86). The ILA and iris lens contact distance (ILCD) showed significant negative correlations in both the lens subluxation group and non-lens subluxation group (Y=20.984-7.251X, R=0.520, and P<0.001; Y=19.923-3.491X, R=0.256, and P<0.001, respectively). The risk ratio of lens subluxation in exposed eyes with ILA=0 in one quadrant at least was significantly higher than that in nonexposed eyes without ILA=0 in all quadrants (X 2 =87.859, P<0.001, and odds ratio (OR)=79.200, 95% CI 23.063 to 271.983). The risk ratio of zonular rupture in exposed quadrants with ILA=0 was significantly lower than that in nonexposed eyes without ILA=0 (X 2 =33.884, P<0.001, OR=0.122, and 95% CI 0.053 to 0.278). The risk ratio of zonular rupture in exposed quadrants with nonforward convexity of iris was significantly lower than that in nonexposed quadrants with forward convexity of iris (X 2 =6.413, P=0.011, and OR=0.381; 95% CI 0.176 to 0.825). Conclusions: ILA=0 and nonforward convexity of iris as UBM sensitive and characteristic indicators for screening lens subluxation and zonular rupture can provide new ideas and hints for clinical diagnosis of acute angle closure secondary to lens subluxation.


Assuntos
Extração de Catarata , Catarata , Glaucoma de Ângulo Fechado , Subluxação do Cristalino , Microscopia Acústica , Idoso , Catarata/patologia , Catarata/fisiopatologia , Feminino , Glaucoma de Ângulo Fechado/patologia , Glaucoma de Ângulo Fechado/fisiopatologia , Glaucoma de Ângulo Fechado/cirurgia , Humanos , Subluxação do Cristalino/patologia , Subluxação do Cristalino/fisiopatologia , Subluxação do Cristalino/cirurgia , Cristalino/patologia , Cristalino/fisiopatologia , Cristalino/cirurgia , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Tonometria Ocular
7.
BMC Ophthalmol ; 19(1): 152, 2019 Jul 18.
Artigo em Inglês | MEDLINE | ID: mdl-31319806

RESUMO

BACKGROUND: To compare the postoperative optical quality in eyes with customized selection and random selection of aspheric intraocular lens (IOL) implantation. METHODS: A prospective, nonrandomized study was implemented in adult cataract patients who underwent unilateral phacoemulsification with aspheric IOL implantation. Patients were allocated into two treatment groups: a customized group and a control group. In the customized group, the aspheric IOL selection was based on the corneal spherical aberration to enable the postoperative target ocular spherical aberration closest to zero; in the control group, the aspheric IOLs were chosen using a random strategy. Primary outcome measurements included the following objective optical quality assessments: higher-order aberrations obtained by a Hartmann-shack aberrometer at 4 mm and 6 mm pupil diameters; objective scatter index (OSI), modulation transfer function (MTF) cut-off, Strehl ratio (SR) and a simulated contrast visual acuity-optical quality analysis system value (OV) obtained by a double-pass system with a 4-mm aperture. Subjective visual acuity was measured as secondary outcome. All the patients were followed up for 3 months. RESULTS: Eighty-four patients in the customized group and 78 patients in the control group were evaluated. There was no significant difference in postoperative visual acuity between the two groups (P > 0.05). Significantly less ocular higher-order aberrations were shown in the customized group (P < 0.05). No significant difference was shown in OSI, MTF cut-off, SR and OV between the two groups (P > 0.05). CONCLUSIONS: Although customized selection of aspheric IOL implantation showed less postoperative ocular aberrations, it performed similarly to random selection of aspheric IOL implantation in terms of postoperative visual acuity, simulated contrast visual acuity, intraocular scatter, modulation transfer function and Strehl ratio. TRIAL REGISTRATION: Retrospectively registered on 07/06/2019. Registration number: ChiCTR1900024356 .


Assuntos
Catarata/fisiopatologia , Implante de Lente Intraocular/métodos , Lentes Intraoculares , Facoemulsificação , Adulto , Idoso , Estudos de Casos e Controles , Sensibilidades de Contraste/fisiologia , Aberrações de Frente de Onda da Córnea/fisiopatologia , Feminino , Humanos , Pessoa de Meia-Idade , Estudos Prospectivos , Desenho de Prótese , Acuidade Visual
8.
Medicina (Kaunas) ; 55(6)2019 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-31159315

RESUMO

Background and objectives: The aim of this study was to examine via electron microscopy the lens epithelial cells in age-related cataracts and compare the findings between patients with and without exfoliation syndrome, in the Greek population. Materials and Methods: Twenty-one patients with age-related cataracts, older than 60 years, were included in the study. Eleven of them also suffered from exfoliation syndrome. Anterior lens capsules, obtained during phacoemulsification, were examined with a transmission electron microscope. Results: In all cases, ultrastructural features of diffuse intracellular and extracellular oedema were noticed to a varying degree and transparent vacuoles were detected. Often, there was more than one layer of cells, giving the impression that healthier cells tried to cover neighboring cells presenting extensive damage. Commonly, cells lost their regular shape and appeared with expanded nuclei carrying dense granules. Apoptotic cells were also detected. The epithelial cells frequently were completely destroyed or absent, exhibiting loose connections amongst them or with the basement membrane. In exfoliation syndrome (XFS) patients the alterations were more severe. Additionally, the lens epithelial cells (LECs) apical cell membrane appeared with varying distances from the basement membrane, due to different cell "heights", creating an irregular margin of the epithelium (p<0.05). Conclusion: Transmission electron microscope (TEM) examination revealed ultrastructural abnormalities in all patients' lens epithelia, more extended and more frequently observed in XFS group. In all cases, the lesions were comparable to those described in severe pathologies, all of which were excluded from the study. Environmental factors such as increased ultraviolet B (UVB) radiation exposure in Mediterranean countries, genetic factors, epigenetic factors, or all of them, could contribute to these alterations. Further epidemiological and molecular biology research is needed, so as to justify these results.


Assuntos
Cápsula Anterior do Cristalino/patologia , Catarata/patologia , Síndrome de Exfoliação/patologia , Idoso , Idoso de 80 Anos ou mais , Envelhecimento/patologia , Cápsula Anterior do Cristalino/cirurgia , Catarata/fisiopatologia , Células Epiteliais/microbiologia , Células Epiteliais/patologia , Síndrome de Exfoliação/complicações , Feminino , Humanos , Masculino , Microscopia Eletrônica/métodos , Pessoa de Meia-Idade
9.
Medicine (Baltimore) ; 98(22): e15870, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-31145344

RESUMO

This article aims to evaluate the outcomes of torsional and burst mode phacoemulsification in hard nuclear cataracts.Eighty eyes with grade IV or V nuclear opalescence were treated with phacoemulsification and intraocular lens implantation using conventional mode (Group A, n = 40) or torsional and burst mode phacoemulsification (Group B, n = 40). For good visualization of anterior capsule, trypan blue was injected to the anterior chamber before continuous circular capsulorhexis. The mean cumulative dissipated energy and ultrasound time were recorded. The best-corrected visual acuity, endothelial cell density, and central corneal thickness were measured before and at 1 month after surgery.The cumulative dissipated energy and ultrasound time of Group B were significantly less than that of Group A. The postoperative best-corrected visual acuities of the 2 groups were comparable. At 1 month after surgery, the changes in the endothelial cell density were significantly greater in Group A than in Group B, and the changes in the central corneal thickness were not significantly different between the 2 groups.Torsional and burst mode is a safe and effective surgical method for treating hard cataracts.


Assuntos
Catarata/terapia , Facoemulsificação/métodos , Idoso , Idoso de 80 Anos ou mais , Catarata/fisiopatologia , Córnea/cirurgia , Paquimetria Corneana , Epitélio Posterior/patologia , Feminino , Humanos , Iridescência , Implante de Lente Intraocular , Masculino , Pessoa de Meia-Idade , Torção Mecânica , Resultado do Tratamento , Acuidade Visual
10.
Acta Ophthalmol ; 97(7): e1019-e1026, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31050166

RESUMO

PURPOSE: To assess forward intraocular scattering by means of a new parameter (Frequency Scatter Index, FSI3 ) based on the analysing double-pass retinal images in the frequency domain, which minimizes the impact of aberrations on the results. METHODS: A prospective observational study was carried out in the Department of Ophthalmology, Hospital Universitari Mútua de Terrassa (Spain) on a group of 19 patients diagnosed with nuclear cataracts of various LOCSIII grades and a control group (CG) with nine healthy eyes. We recorded double-pass retinal images with a custom set-up based on a high-sensitivity digital camera. The FSI3 was then computed using spatial frequencies below three cycles per degree. A preliminary validation of the FSI3 was performed on an artificial eye and two eyes of volunteers with and without commercial diffusers, and under defocus. RESULTS: The FSI3 was hardly affected by defocus values up to 2.50 D. The mean (and standard deviation) FSI3 values were as follows: for the CG, 1.19 (0.21); and for LOCSIII grades nuclear opacity 1, 2 and 3, 1.30 (0.12), 1.62 (0.21) and 1.85 (0.21), respectively. Eyes with cataracts showed FSI3 values significantly different than healthy eyes (p = 0.001). A good correlation (ρ = 0.861, p < 0.001) was found between the FSI3 and objective scatter index provided by a commercial instrument. CONCLUSION: Since aberrations have little impact on the FSI3 , the light scatter assessment becomes less dependent on the patient's refractive error compensation and the presence of higher-order aberrations. The FSI3 can further the clinical and scientific understanding of forward intraocular scattering.


Assuntos
Catarata/fisiopatologia , Córnea/efeitos da radiação , Luz , Espalhamento de Radiação , Acuidade Visual , Idoso , Idoso de 80 Anos ou mais , Catarata/diagnóstico , Córnea/diagnóstico por imagem , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
11.
Exp Eye Res ; 184: 8-14, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30946840

RESUMO

Beige adipocytes and brown adipocytes can generate heat by using mitochondrial uncoupling protein 1 (Ucp1), a thermogenic protein. Browning/beiging is the emergence of beige adipocytes in white adipose tissues (WAT) for cold acclimatization. Here we show the existence of brown/beige adipocytes in retro-orbital WAT in mice. Histologically, Ucp1-positive cells with multilocular lipid droplets were abundant in retro-orbital WAT of immature mice; those cells decreased in number with age. However, Ucp1-positive adipocytes with multilocular lipid droplets emerged in retro-orbital WAT in adult mice, due to cold exposure as short as 3 h. Consistent with this observation, the expression level of Ucp1 mRNA was enhanced in tissues upon cold exposure. Furthermore, eye surface temperature remained within a physiological range during cold challenge. RT-qPCR suggested a mixed phenotype of brown and beige adipocytes in retro-orbital WAT. Transmission electron microscopic observation showed multiple lipid droplets and numerous mitochondria with high cristae density in retro-orbital WAT cells from both control and cold-exposed mice. Our results suggest that warming of the orbital cavity by browning/beiging in retro-orbital WAT is a protective mechanism against cold cataract caused by lowered lens temperature.


Assuntos
Adipócitos Bege/fisiologia , Tecido Adiposo/fisiologia , Envelhecimento/fisiologia , Catarata/fisiopatologia , Temperatura Baixa , Adipócitos Bege/metabolismo , Animais , Camundongos , Proteína Desacopladora 1/metabolismo
12.
J Pediatr Ophthalmol Strabismus ; 56(2): 83-87, 2019 Mar 19.
Artigo em Inglês | MEDLINE | ID: mdl-30889261

RESUMO

PURPOSE: To compare intraoperative technique and quality of surgical steps in pediatric cataract surgery between pediatric ophthalmology consultants and fellows in training. METHODS: In a video-based analysis by two fellowship-trained pediatric ophthalmologists, 42 surgical videos of pediatric ophthalmology consultants and 34 videos of fellows in training were graded based on the International Council of Ophthalmology's Ophthalmology Surgical Competency Assessment Rubrics (ICO-OSCAR). Six steps in surgery were analyzed: wound construction, anterior continuous curvilinear capsulorrhexis, irrigation and aspiration, intraocular lens implantation, primary posterior capsulorrhexis with anterior vitrectomy, and wound suturing. Cohen's Kappa was used to rate inter-observer agreement. RESULTS: Cohen's Kappa scores ranged from 0.6 to 0.8. The median scores for surgical steps for both analyzed groups were similar. The mean duration of surgery was shorter for consultants (24 minutes, range: 10 to 45 minutes) than for fellows (40 minutes, range: 15 to 70 minutes). The median age of patients operated on by consultants was younger (24 months, range: 2 to 180 months) than fellows (58 months, range: 10 to 150 months). CONCLUSIONS: The quality of the surgical steps performed by pediatric ophthalmology consultants and fellows in training was similar. [J Pediatr Ophthalmol Strabismus. 2019;56(2):83-87.].


Assuntos
Extração de Catarata/métodos , Catarata/fisiopatologia , Competência Clínica , Consultores , Educação de Pós-Graduação em Medicina/métodos , Internato e Residência/métodos , Oftalmologia/educação , Extração de Catarata/educação , Pré-Escolar , Avaliação Educacional , Feminino , Humanos , Lactente , Masculino , Curva ROC , Acuidade Visual , Adulto Jovem
13.
Medicine (Baltimore) ; 98(11): e14803, 2019 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-30882657

RESUMO

RATIONALE: The case with congenital macular coloboma and cataract was rarely reported, and the pathogenic gene of the disease is still not clear. Moreover, it is difficult to improve the visual acuity of the eye with this disease. PATIENT CONCERNS: An 11-year-old boy presented low visual acuity and horizontal nystagmus in both eyes. Ophthalmologic examination showed the patient with bilateral congenital coloboma and cataract. The visual acuity of the patient improved slightly after cataract surgery. Heterozygous mutations of frizzled-4 (FZD4) and nucleotide-binding oligomerization domain-containing protein 2 (NOD2) were identified by next-generation sequencing in this case. DIAGNOSIS: Congenital macular coloboma and cataract of both eyes. INTERVENTIONS: We performed the standard phacoemulsification and intraocular lens implantation on both eyes of the patient for the treatment of congenital cataract, and then followed up the fundus lesions regularly. OUTCOMES: Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, but the vision of this patient was still very poor postoperatively. Furthermore, the heterozygous mutations of FZD4 and NOD2 were found in this patient. LESSONS: Cataract surgery may improve the visual acuity of the eyes with congenital macular coloboma and cataract at some degree, and heterozygous mutations of FZD4 and NOD2 may be involved in the occurrence of congenital macular coloboma and cataract.


Assuntos
Catarata , Coloboma , Receptores Frizzled/genética , Implante de Lente Intraocular/métodos , Macula Lutea/anormalidades , Proteína Adaptadora de Sinalização NOD2/genética , Facoemulsificação/métodos , Catarata/congênito , Catarata/diagnóstico , Catarata/genética , Catarata/fisiopatologia , Criança , Coloboma/diagnóstico , Coloboma/genética , Coloboma/fisiopatologia , Coloboma/cirurgia , Técnicas de Diagnóstico Oftalmológico , Humanos , Macula Lutea/fisiopatologia , Macula Lutea/cirurgia , Masculino , Nistagmo Patológico/diagnóstico , Nistagmo Patológico/etiologia , Resultado do Tratamento , Acuidade Visual
14.
Ophthalmic Res ; 62(3): 157-165, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-30921809

RESUMO

PURPOSE: To evaluate the relationship between the presence of cortical cataract and accommodation effort, using refractive error as a proxy. METHODS: Patients between 50 and 90 years, scheduled for cataract surgery, were selected with the help of a photographic database. Nuclear and cortical cataract were graded and patients grouped having no cataract, pure cortical, mixed or pure nuclear cataract. Refraction data at the time of the photograph was converted to estimated spherical equivalent refractive error each patient would have had at the age of 45 years. RESULTS: From the initial 239 eyes from 239 patients, cases with myopia below -6.5 dpt and hyperopia above 6.5 dpt were excluded, resulting in 199 cases for final analysis. Eyes with no cataract showed the lowest median refractive error (-3.65 dpt), followed by the pure nuclear group (-2.69 dpt). The median refractive error for pure cortical (-0.23 dpt) and mixed cataracts (-0.87 dpt) were close to emmetropia. Cortical cataracts were found in 37% of myopes, 82% of emmetropes, and 85% of hyperopes. CONCLUSION: Emmetropes and hyperopes tend to develop more cortical cataract than myopes. These cortical cataracts might be caused by shear stress inside the crystalline lens due to accommodation efforts at the time of onset of presbyopia.


Assuntos
Catarata/fisiopatologia , Refração Ocular/fisiologia , Erros de Refração/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Catarata/complicações , Emetropia/fisiologia , Feminino , Humanos , Hiperopia/fisiopatologia , Masculino , Pessoa de Meia-Idade , Miopia/fisiopatologia , Erros de Refração/etiologia
15.
Invest Ophthalmol Vis Sci ; 60(4): 858-867, 2019 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-30821811

RESUMO

Purpose: Investigate the effects of the absence of 17 amino acids at the C-terminal end of Aquaporin 0 (AQP0) on lens transparency, focusing property, and homeostasis. Methods: A knockin (KI) mouse model (AQP0ΔC/ΔC) was developed to express AQP0 only as the end-cleaved form in the lens. For this, AQP0 was genetically engineered as C-terminally end-cleaved with amino acids 1 to 246, instead of the full length 1 to 263 of the wild type (WT). After verifying the KI integration into the genome and its expression, the mouse model was bred for several generations. AQP0 KI homozygous (AQP0ΔC/ΔC) and heterozygous (AQP0+/ΔC) lenses were imaged and analyzed at different developmental stages for transparency. Correspondingly, aberrations in the lens were characterized using the standard metal grid focusing method. Data were compared with age-matched WT, AQP0 knockout (AQP0-/-), and AQP0 heterozygous (AQP0+/-) lenses. Results: AQP0ΔC/ΔC lenses were transparent throughout the embryonic development and until postnatal day 15 (P15) in contrast to age-matched AQP0-/- lenses, which developed cataract at embryonic stage itself. However, there was distortion aberration in AQP0ΔC/ΔC lens at P5; after P15, cataract began to develop and progressed faster surpassing that of age-matched AQP0-/- lenses. AQP0+/ΔC lenses were transparent even at the age of 1 year in contrast to AQP0+/- lenses; however, there was distortion aberration starting at P15. Conclusions: A specific distribution profile of intact and end-cleaved AQP0 from the outer cortex to the inner nucleus is required in the lens for establishing refractive index gradient to enable proper focusing without aberrations and for maintaining transparency.


Assuntos
Sequência de Aminoácidos/genética , Aquaporinas/genética , Catarata/genética , Proteínas do Olho/genética , Cristalino/patologia , Erros de Refração/genética , Deleção de Sequência/genética , Animais , Western Blotting , Catarata/embriologia , Catarata/fisiopatologia , Células Cultivadas , Modelos Animais de Doenças , Técnicas de Introdução de Genes , Imuno-Histoquímica , Camundongos , Camundongos Endogâmicos C57BL , Erros de Refração/embriologia , Erros de Refração/fisiopatologia , Espectrometria de Massas por Ionização e Dessorção a Laser Assistida por Matriz , Transfecção
16.
Acta Ophthalmol ; 97(6): e860-e870, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30900825

RESUMO

PURPOSE: To reduce capsular opacification by a peri-surgical treatment of the lens capsule with drugs in an in vivo rabbit model. Lens-refilling surgery is a potential therapeutic intervention to treat patients with a cataract lens. The lens material is replaced with an injectable (bio)polymer that retains the natural mechanical and optical lens properties, therewith allowing accommodation. The occurrence of capsular opacification mediated by lens epithelial cells negatively affects accommodation and vision and should be avoided in this lens restoration approach. METHODS: An in vivo rabbit animal model was used with lens replacement with a silicone-based gel-like polymer and concurrent treatment of the lens epithelium with drugs. A case-study approach was applied as both drug combinations and implantation times were varied. The following drugs were investigated for their potential to prevent capsular opacification long-term: actinomycin D, methotrexate, paclitaxel and Tween-20. All were administered in a hyaluronic acid vehicle. The rabbits were clinically followed for periods up to 4 years postimplantation. Eyes, corneas and lenses were analysed post-mortem using MRI and confocal microscopy. RESULTS: Treatment combinations containing actinomycin D generally led to the least appearance of capsular fibrosis. The use of Tween-20 or paclitaxel without actinomycin D resulted in much earlier and pronounced fibrotic responses. The aspect of capsular opacification was highly variable in individual animals. Application of the drugs in a hyaluronic acid vehicle appeared to be a safe method that spared the corneal endothelium. CONCLUSION: The feasibility of long-term prevention of fibrosis over a period of more than 4 years has been demonstrated in lens refilling in the rabbit model.


Assuntos
Opacificação da Cápsula/prevenção & controle , Catarata/fisiopatologia , Cápsula do Cristalino/cirurgia , Lentes Intraoculares , Facoemulsificação/efeitos adversos , Refração Ocular/fisiologia , Elastômeros de Silicone , Acomodação Ocular , Animais , Opacificação da Cápsula/etiologia , Modelos Animais de Doenças , Estudos de Viabilidade , Seguimentos , Cristalino/cirurgia , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/prevenção & controle , Desenho de Prótese , Coelhos , Fatores de Tempo
17.
Artigo em Inglês | MEDLINE | ID: mdl-30857240

RESUMO

This study provides diverse lines of evidence demonstrating that fluoride (F) exposure contributes to degenerative eye diseases by stimulating or inhibiting biological pathways associated with the pathogenesis of cataract, age-related macular degeneration and glaucoma. As elucidated in this study, F exerts this effect by inhibiting enolase, τ-crystallin, Hsp40, Na⁺, K⁺-ATPase, Nrf2, γ -GCS, HO-1 Bcl-2, FoxO1, SOD, PON-1 and glutathione activity, and upregulating NF-κB, IL-6, AGEs, HsP27 and Hsp70 expression. Moreover, F exposure leads to enhanced oxidative stress and impaired antioxidant activity. Based on the evidence presented in this study, it can be concluded that F exposure may be added to the list of identifiable risk factors associated with pathogenesis of degenerative eye diseases. The broader impact of these findings suggests that reducing F intake may lead to an overall reduction in the modifiable risk factors associated with degenerative eye diseases. Further studies are required to examine this association and determine differences in prevalence rates amongst fluoridated and non-fluoridated communities, taking into consideration other dietary sources of F such as tea. Finally, the findings of this study elucidate molecular pathways associated with F exposure that may suggest a possible association between F exposure and other inflammatory diseases. Further studies are also warranted to examine these associations.


Assuntos
Catarata/metabolismo , Fluoretos/administração & dosagem , Glaucoma/metabolismo , Degeneração Macular/metabolismo , Saúde Pública , Antioxidantes/metabolismo , Biomarcadores/metabolismo , Catarata/induzido quimicamente , Catarata/fisiopatologia , Fluoretação , Fluoretos/efeitos adversos , Glaucoma/induzido quimicamente , Glaucoma/fisiopatologia , Humanos , Degeneração Macular/induzido quimicamente , Degeneração Macular/fisiopatologia , Saúde Bucal , Estresse Oxidativo , Abastecimento de Água
18.
BMC Ophthalmol ; 19(1): 56, 2019 Feb 20.
Artigo em Inglês | MEDLINE | ID: mdl-30786855

RESUMO

BACKGROUND: Cataract patients were always excluded from studies on ageing of colour vision; thus, effect of age-related cataracts on deterioration of colour perception has not been analysed. In present study, impacts of age-related cataracts on colour discrimination, postoperative recovery and related spectra were investigated. METHODS: In this cohort study, thirty age-related cataract patients scheduled for binocular surgery and 30 elderly volunteers were enrolled. Colour discrimination under photopic (1000 lx) and mesopic (40 lx) conditions was evaluated with Farnsworth-Munsell 100-hue test. The total error score (TES) and partial error score (PES) were calculated. RESULTS: Preoperatively, the TES in the patient group was 129.7 ± 59.5 at 1000 lx and 194.6 ± 74.5 at 40 lx, exhibiting worse discrimination than the volunteer group (TES1000lux = 71.5 ± 37.5 and TES40lux = 113.1 ± 38.8, p ≤ 0.001). Inferior perception were detected in the yellow to green-yellow (Y-GY), green-yellow to green (GY-G), green to blue-green (G-BG) and blue-green to blue (BG-B) colour bands (p ≤ 0.003), corresponding to the 470 nm-580 nm range of the visible light spectrum. Under mesopic conditions, the impact expanded to all colour bands except for yellow-red to yellow (YR-Y). Postoperatively, the TES in the patient group were 80.4 ± 62.4 at 1000 lx and 112.0 ± 85.2 at 40 lx, which were lower than those of the preoperative phase (p ≤ 0.001) but similar to those of the volunteer group (p ≥ 0.505). Postoperative improvement occurred in the Y-GY, GY-G and G-BG colour bands (490 nm to 580 nm) at 1000 lx (p ≤ 0.001) and shifted to the Y-GY, GY-G, G-BG and BG-B colour bands (470 nm to 580 nm) at 40 lx (p ≤ 0.001). Deterioration of hue perception for decrement of illumination was detected in the red to yellow-red (R-YR), Y-GY, G-BG, BG-B, blue to purple-blue (B-PB) and red-purple to red (RP-R) colour bands (450 nm to 500 nm) in the volunteer group (p ≤ 0.002) and the R-YR, G-BG, BG-B, B-PB, PB-P and red-purple to red (RP-R) colour bands (from the short-wavelength end to 500 nm) in the patient group preoperatively (p ≤ 0.001). CONCLUSIONS: Phacoemulsification could effectively rebuild colour perception in patients with age-related cataract. The postoperative benefits were most significant in colour bands corresponding with spectrum from 470 nm to 580 nm.


Assuntos
Catarata/fisiopatologia , Percepção de Cores/fisiologia , Recuperação de Função Fisiológica/fisiologia , Transtornos da Visão/fisiopatologia , Idoso , Catarata/complicações , Estudos de Coortes , Humanos , Implante de Lente Intraocular , Visão Mesópica/fisiologia , Pessoa de Meia-Idade , Facoemulsificação , Período Pós-Operatório , Transtornos da Visão/etiologia
20.
Acta Ophthalmol ; 97(6): 596-602, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-30690920

RESUMO

PURPOSE: To examine visual acuity, refraction and ocular status before, during and after hyperbaric oxygen therapy (HBOT). METHODS: Twenty-nine patients underwent 40 standard protocol HBOT treatments. In all subjects, refraction and best corrected visual acuity were measured at baseline and after ten, 20, 30 and 40 treatments, and at a 12-week follow-up. A subgroup (n = 19) were given additional examinations at baseline, after 40 treatments and at follow-up including measuring central corneal thickness (CCT), corneal curvature, anterior chamber depth, lens thickness, axial length, fundus morphology, blood pressure and intraocular pressure (IOP). Lens colour and opalescence were graded using the Lens Opacities Classification System III (LOCS III). RESULTS: Myopic shifts [≥0.5 dioptre (D) spherical equivalent (SE)] occurred in 45 (77.6%) eyes. Median refractive changes of -0.75 D SE (right eye; p < 0.001) and -0.66 D SE (left eye; p < 0.001) were observed between pretreatment and treatment end (Wilcoxon signed rank test). Refraction returned to baseline at follow-up, except for a small persisting change towards myopia, median -0.25 D SE (left eye; p = 0.01). Using the LOCS III, median increases in lens nuclear colour, of 0.6 (right eye; p < 0.001) and 0.7 (left eye; p < 0.001), and opalescence of 0.7 (both eyes; p = 0.01) were found at the last examination. Small reductions were noted in CCT of -6.00 µm (right eye; p = 0.03) and -4.00 µm (left eye; p = 0.03), and IOP of -1.50 mmHg (left eye; p = 0.01). CONCLUSIONS: The transient myopic shift may have been due to lenticular refractive index changes. Reduced lens transparency is a potential consequence of HBOT.


Assuntos
Catarata/prevenção & controle , Oxigenação Hiperbárica/métodos , Cristalino/fisiopatologia , Miopia/terapia , Refração Ocular/fisiologia , Acuidade Visual , Adolescente , Adulto , Idoso , Catarata/etiologia , Catarata/fisiopatologia , Progressão da Doença , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Miopia/complicações , Miopia/fisiopatologia , Prognóstico , Estudos Prospectivos , Adulto Jovem
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