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1.
Retina ; 43(8): 1413-1416, 2023 08 01.
Artigo em Inglês | MEDLINE | ID: mdl-33149099

RESUMO

PURPOSE: To present a suturing technique for safe refixation of posteriorly dislocated one-piece hydrophobic acrylic intraocular lenses (IOLs). METHOD: Retrospective data analysis of a series of 12 cases operated with vitrectomy, followed by IOL relocation to the retropupillary area, after which polypropylene sutures are passed through the optic-haptic junctions of the dislocated IOL and subsequently secured to the sclera. RESULTS: In all cases, the IOL remained centered throughout the follow-up period (mean 10.5 months, range 3 weeks-36 months). One case was complicated by vitreous hemorrhage the first postoperative day and later cystoid macular edema. Visual acuity was not compromised at the end of follow-up. CONCLUSION: The presented technique is safe and provides long-term stable refixation in cases of late posterior dislocation of a one-piece hydrophobic acrylic IOL. The risk that sutures looped around haptics will slip off the haptic is thereby avoided.


Assuntos
Implante de Lente Intraocular , Lentes Intraoculares , Humanos , Implante de Lente Intraocular/métodos , Esclera/cirurgia , Estudos Retrospectivos , Reoperação , Técnicas de Sutura , Complicações Pós-Operatórias/cirurgia
2.
Adv Med Sci ; 66(1): 192-198, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33711669

RESUMO

PURPOSE: High myopia (HM) is an eye disorder with both environmental and genetic factors involved. Many genetic factors responsible for HM were recognized worldwide, but little is known about genetic variants underlying HM in Central Europe. Thus, the aim of this study was to identify rare sequence variants involved in HM in families from Central Europe to better understand the genetic basis of HM. MATERIALS AND METHODS: We assessed 17 individuals from 7 unrelated Central European families with hereditary HM using exome sequencing (ES). Segregation of selected variants in other available family members was performed using Sanger sequencing. RESULTS: Detected 73 rare variants were selected for verification. We observed 2 missense variants, c.938C>T in SLC35E2B - encoding solute carrier family 35 member E2B, and c.1642G>C in FLRT3 - encoding fibronectin leucine rich transmembrane protein, segregating with HM in one family. CONCLUSIONS: FLRT3 â€‹and/or â€‹SLC35E2B â€‹could represent disease candidate genes and identified sequence variants might be responsible for HM in the studied family.


Assuntos
Exoma , Predisposição Genética para Doença , Glicoproteínas de Membrana/genética , Mutação , Miopia/patologia , Proteínas Carreadoras de Solutos/genética , Adolescente , Europa (Continente)/epidemiologia , Feminino , Seguimentos , Humanos , Masculino , Miopia/epidemiologia , Miopia/genética , Linhagem , Prognóstico
4.
Acta Ophthalmol ; 98(3): 224-236, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-31788964

RESUMO

We present a literature review of surgical techniques of intraocular lens placement in eyes with insufficient capsular support, focusing on the most recent publications, together with a retrospective multicentre consecutive case series analysis of 103 eyes undergoing pars plana vitrectomy and sutureless intrascleral (SIS) fixation of a standard three-piece PCIOL. Many different approaches appear in the literature without any specific procedure achieving superior outcomes. Advantages and disadvantages vary between techniques. Common complications related to IOL fixation techniques were as follow: anterior chamber IOL: transient/permanent corneal oedema (9-66.6%), uveitis (1.1-39.3%); iris-fixated IOL: pupil ovalization (16-47.7%); and sutured scleral-fixated IOL: suture breakage/exposure (6.1-11%), vitreous haemorrhage: (5.5-16.6%). In our retrospective case series, indications for surgery were postoperative aphakia in 50 eyes (49%), IOL dislocation in 38 eyes (37%) and natural lens dislocation in 15 eyes (14%). Scleral tunnels for haptic fixation were created with (28 eyes, 27.2%) or without (75 eyes, 72.8%) 25 gauge trocar cannulas. Complications included transient hypotony (n = 20; 19.4%), corneal decompensation (n = 7; 6.7%), IOL dislocation (n = 6; 5.8%), cystoid macular oedema (n = 5; 4.8%), vitreous haemorrhage (n = 4; 3.8%) and retinal detachment (n = 4; 3.8%). Mean best corrected visual acuity improved from logMAR 0.65 to 0.36 at the final visit (p = 0.001). In conclusion, SIS fixation provides good anatomical and functional outcomes; however, complications can occur. The number of surgical approaches for IOL dislocation described in the literature indicates that optimal treatment remains to be found.


Assuntos
Implante de Lente Intraocular/métodos , Esclera/cirurgia , Procedimentos Cirúrgicos sem Sutura/métodos , Vitrectomia/métodos , Idoso , Idoso de 80 Anos ou mais , Afacia Pós-Catarata/cirurgia , Feminino , Humanos , Implante de Lente Intraocular/efeitos adversos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/etiologia , Estudos Retrospectivos , Procedimentos Cirúrgicos sem Sutura/efeitos adversos
5.
Acta Ophthalmol ; 94(5): 507-13, 2016 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-27009675

RESUMO

PURPOSE: To compare 1.8 mm micro-incision and 2.75 mm standard incision in coaxial cataract surgery combined with 23-Gauge (23G) vitrectomy with respect to intraoperative and postoperative complications and outcomes. METHODS: In this prospective study 30 eyes of 30 patients planned for combined phacoemulsification and 23G vitrectomy were enrolled, and randomized to undergo either Standard 2.75 mm Incision Cataract Surgery (SICS, 15 eyes) or Coaxial 1.8 mm Micro-Incision Cataract Surgery (C-MICS, 15 eyes) followed by vitrectomy. Inclusion criteria were cataract and macular disorders including macular hole, epiretinal membrane and vitreomacular traction. Data were collected at preoperative evaluation and 1 and 12 months or more after surgery. RESULTS: Incision leakage occurred in two eyes (7%: one per group), retinal break in nine (30%: four in C-MICS, five in SICS). Fibrin in anterior chamber (AC) occurred day 1 in three eyes (10%: two C- and one SICS). Posterior capsule opacification developed in 22 eyes (78%: 13 MICS, nine SICS, p = 0.1). A myopic shift of -0.63 ± 0.7 was noted (-0.59 ± 0.8 MICS, -0.68 ± 0.6 SICS, p = 0.74). Surgically induced astigmatism (SIA) was significantly smaller in C-MICS group (ΔKP, -0.019 ± 0.095 versus -0.141 ± 0.219, p = 0.0038) at 1 month but not at final follow-up (ΔKP, 0.0005 ± 0.16 in C-MICS versus -0.057 ± 0.12, p = 0.3 CONCLUSIONS: Both techniques were equally safe with respect to intraoperative and postoperative findings. Coaxial micro-incision cataract surgery (C-MICS) was associated with less surgically-induced astigmatism (SIA) 1 month after surgery but differences were not statistically significant at final follow-up indicating a faster refractive recovery with C-MICS than with SICS.


Assuntos
Complicações Intraoperatórias , Microcirurgia/métodos , Facoemulsificação/métodos , Complicações Pós-Operatórias , Vitrectomia/métodos , Idoso , Astigmatismo/diagnóstico , Astigmatismo/etiologia , Catarata/complicações , Membrana Epirretiniana/cirurgia , Oftalmopatias/cirurgia , Feminino , Humanos , Implante de Lente Intraocular , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Recuperação de Função Fisiológica/fisiologia , Perfurações Retinianas/cirurgia , Acuidade Visual/fisiologia , Corpo Vítreo/cirurgia , Cicatrização/fisiologia
6.
Acta Ophthalmol ; 94(3): 289-94, 2016 May.
Artigo em Inglês | MEDLINE | ID: mdl-26806788

RESUMO

PURPOSE: Keratoconus (KTCN) is a degenerative disorder characterized by stromal thinning and protrusion of the cornea, resulting in severe impairment of visual function. A recent study proposed that rare heterozygous mutations in ZNF469 determine KTCN aetiology. METHODS: To investigate the contribution of ZNF469 to KTCN, we Sanger sequenced ZNF469 in 42 unrelated Polish patients with KTCN and 49 Polish individuals with high myopia (HM) and compared the results with whole-exome sequencing (WES) data performed in 268 Polish individuals without ocular abnormalities. RESULTS: The average number of ZNF469 non-synonymous variants was 16.31 and 16.0 for individuals with KTCN and HM, respectively (p = 0.3724). All identified variants were previously reported. Alternative allele frequency (AAF) was determined based on the WES results. Among missense variants, only one (rs528085780) has AAF ≤ 0.001 and was identified in one patient with sporadic KTCN. However, the resulting Arg1864Lys substitution was not predicted to be deleterious. CONCLUSION: In summary, we have not found a significant enrichment of sequence variants in ZNF469 in Polish patients with KTCN. High prevalence of ZNF469 variants identified in our KTCN group is typical for a common genetic variation observed in general population. Our findings indicate that variation in ZNF469 is not responsible for KTCN and other genetic variants are involved in the development and progression of this disease in Polish patients.


Assuntos
Ceratocone/genética , Mutação de Sentido Incorreto , Fatores de Transcrição/genética , Adolescente , Adulto , Idoso , Análise Mutacional de DNA , Feminino , Frequência do Gene , Variação Genética , Humanos , Masculino , Pessoa de Meia-Idade , Polônia , Adulto Jovem
7.
Retina ; 34(1): 142-8, 2014 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23807183

RESUMO

PURPOSE: The aim of the study was to retrospectively review indications, intraoperative and postoperative complications, and outcomes of combined coaxial microincision cataract surgery and 23-gauge vitrectomy for posterior segment disease. METHODS: The outcomes and findings of surgery in 50 patients (50 eyes) who underwent coaxial microincision cataract surgery and foldable intraocular lens implantation combined with 23-gauge vitrectomy for a variety of indications between January 2010 and March 2012. RESULTS: No posterior capsule tear was observed during surgery. Intraoperatively, a retinal break was found in 9 eyes (18%), which were successfully treated with laser and/or cryotherapy. Corneal suture was done in 6 eyes (12%), 5 of them left and 1 right. Sclerotomy was sutured in 2 left and 2 right eyes, respectively, a total of 4 eyes (8%). In 1 case, 23-gauge vitrectomy was converted to 20-gauge vitrectomy. The postoperative intraocular pressure (millimeters of mercury, mean ± standard deviation) was 16.7 ± 9.8. Hypotony (intraocular pressure < 9 mmHg) occurred in 9 eyes (18%). In 1 eye (2%) posterior iris synechia were observed 2 weeks after surgery, and intraocular pressure was >40 mmHg. Intraocular pressure was normalized after Nd:YAG laser iridotomy. Fibrin reaction in the anterior chamber was observed in 1 eye (2%) Day 1 after surgery. Posterior capsule opacification, which required Nd:YAG laser capsulotomy, was observed in 11 eyes (22%) during the follow-up. CONCLUSION: Combined sutureless coaxial microincision cataract surgery and 23-gauge vitrectomy offers the advantages of both coaxial microincision cataract surgery (less wound leakage, good anterior chamber stability, and safety) and 23-gauge vitrectomy (decreased inflammation and faster rehabilitation after surgery).


Assuntos
Microcirurgia/métodos , Facoemulsificação/métodos , Segmento Posterior do Olho/cirurgia , Doenças Retinianas/cirurgia , Vitrectomia/métodos , Idoso , Opacificação da Cápsula/etiologia , Opacificação da Cápsula/cirurgia , Túnica Conjuntiva/cirurgia , Feminino , Humanos , Pressão Intraocular , Complicações Intraoperatórias , Lasers de Estado Sólido , Implante de Lente Intraocular , Masculino , Complicações Pós-Operatórias , Doenças Retinianas/diagnóstico , Estudos Retrospectivos , Resultado do Tratamento , Acuidade Visual/fisiologia
8.
Mol Vis ; 17: 2428-39, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21976954

RESUMO

PURPOSE: Recent work has suggested that insulin-like growth factor 1 (IGF-1) gene polymorphisms are genetically linked with high-grade myopia (HM), which is a complex-trait eye disorder in which numerous candidate loci and genes are thought to play a role. We investigated whether the IGF-1 single nucleotide polymorphisms (SNPs) rs6214, rs10860860, and rs2946834 are associated with HM (≤-6.0 diopters [D]) and any myopia (≤-0.5 D) phenotype in Polish families. METHODS: Forty-two multiplex HM Polish families, of whom 127 had HM, participated in the study. All of the family members (n=306) underwent a detailed ophthalmic examination, including axial length measurements. The IGF-1 SNPs rs6214, rs10860860, and rs2946834 were evaluated by PCR-RFLP and direct sequencing methods. Both Family-Based Association Test (FBAT) and family-based Pedigree Disequilibrium Test (PDT) were used to examine the potential association of the IGF-1 SNPs rs6214, rs10860860, and rs2946834 with HM or any myopia. To determine the distribution of the HM-associated SNPs rs6214 and rs10860860, 543 unrelated individuals from the general Polish population were also analyzed. RESULTS: We found no significant association between the IGF-1 SNPs rs6214, rs10860860, and rs2946834 and HM or any myopia phenotype in Polish HM families. In the general Polish population, the minor allele frequencies of the SNPs rs6214 and rs10860860 did not deviate significantly from the distribution reported for European populations (p=0.629). In the FBAT analysis under the dominant model, the haplotype consisted of T allele of rs10860860, with C allele of rs2946834 of IGF-1 was found less frequently transmitted to HM individuals (p=0.0065), pointing to a nonassociated or protective haplotype. CONCLUSIONS: Our results do not support recent studies reporting an association of the SNPs rs6214, rs10860860, and rs2946834 in the IGF-1 gene with HM and any myopia phenotypes. Further replication studies involving other populations are needed to investigate the possible role of IGF-1 as a potential myopia candidate gene.


Assuntos
Olho/fisiopatologia , Fator de Crescimento Insulin-Like I/genética , Miopia/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Alelos , Comprimento Axial do Olho , Estudos de Casos e Controles , Criança , Pré-Escolar , Olho/patologia , Feminino , Frequência do Gene , Genótipo , Haplótipos , Humanos , Desequilíbrio de Ligação , Masculino , Pessoa de Meia-Idade , Miopia/epidemiologia , Miopia/patologia , Miopia/fisiopatologia , Linhagem , Fenótipo , Polônia/epidemiologia , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição , Polimorfismo de Nucleotídeo Único
9.
Mol Vis ; 17: 2028-39, 2011.
Artigo em Inglês | MEDLINE | ID: mdl-21850178

RESUMO

PURPOSE: Myopia is the most common human eye disorder with complex genetic and environmental causes. To date, several myopia loci have been identified in families of different geographic origin. However, no causative gene(s) have yet been identified. The aim of this study was the characterization of Polish families with high-grade myopia, including genetic analysis. METHODS: Forty-two multiplex Polish families with non-syndromic high-grade myopia participated in the study. All family members underwent detailed ophthalmic examination and high-grade myopia was defined as ≤-6.0 diopters (D) based on the spherical refractive error. A genome-wide single nucleotide polymorphism (SNP)-based high-density linkage scan was performed using Affymetrix Human SNP Array 6.0 on a selected family (HM-32) with multiple affected individuals. RESULTS: Nonparametric linkage analysis identified three novel loci in family HM-32 at chromosome 7p22.1-7p21.1 ([NPL] 8.26; p=0.006), chromosome 7p12.3-7p11.2 ([NPL] 8.23; p=0.006), and chromosome 12p12.3-12p12.1 ([NPL] 8.02; p=0.006), respectively. The effect of linkage disequilibrium on linkage due to dense SNP map was addressed by systematically pruning SNPs from the linkage panel. CONCLUSIONS: Haplotype analysis with informative crossovers in affected individuals defined a 12.2; 10.9; and 9.5 Mb genomic regions for high-grade myopia spanned between SNP markers rs11977885/rs10950639, rs11770622/rs9719399, and rs4763417/rs10842388 on chromosomes 7p22.1-7p21.1, 7p12.3-7p11.2, and 12p12.3-12p12.1, respectively.


Assuntos
Mapeamento Cromossômico/métodos , Ligação Genética , Miopia/genética , Polimorfismo de Nucleotídeo Único , População Branca , Cromossomos Humanos Par 12/química , Cromossomos Humanos Par 12/genética , Cromossomos Humanos Par 7/química , Cromossomos Humanos Par 7/genética , Perfilação da Expressão Gênica , Loci Gênicos , Predisposição Genética para Doença , Genótipo , Haplótipos , Humanos , Escore Lod , Repetições de Microssatélites , Miopia/etnologia , Linhagem , Polônia/epidemiologia , Índice de Gravidade de Doença
10.
Klin Oczna ; 111(1-3): 84-8, 2009.
Artigo em Polonês | MEDLINE | ID: mdl-19517854

RESUMO

Myopia is the most common refractive error Myopia has been well established as a multifactorial disease with both genetic and environmental etiology. A number of genetic loci have been linked with myopia. We have described the prevalence and the symptoms of systemic disorders associated with myopia, including: Stickler syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Weill-Marchesani syndrome, homocystinuria, McCune-Albright syndrome, Kniest syndrome, Down syndrome, Prader-Willi syndrome, Noonan syndrome, Cohen syndrome, Rubinstein-Taybi syndrome, Cornelia de Lange syndrome and fetal alcohol syndrome.


Assuntos
Miopia/epidemiologia , Causalidade , Comorbidade , Síndrome de Cornélia de Lange/epidemiologia , Síndrome de Down/epidemiologia , Síndrome de Ehlers-Danlos/epidemiologia , Feminino , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Displasia Fibrosa Poliostótica/epidemiologia , Homocistinúria/epidemiologia , Humanos , Síndrome de Marfan/epidemiologia , Síndrome de Noonan/epidemiologia , Síndrome de Prader-Willi/epidemiologia , Gravidez , Síndrome de Rubinstein-Taybi/epidemiologia
11.
Klin Oczna ; 109(4-6): 173-5, 2007.
Artigo em Polonês | MEDLINE | ID: mdl-17725279

RESUMO

PURPOSE: Of this study is to present fundus changes in members of families with high myopia. MATERIAL AND METHODS: Detailed clinical examination of the enrolled subjects have been performed in the high myopia families. Both affected (presented with high myopia) and unaffected individuals (without high myopia) are given an ophthalmologic examination: best-corrected visual acuity testing, intraocular pressure examination, fundoscopy, axial length determination (using ultrasonography), refractometry. RESULTS: In the 19 high myopia families, 152 individuals were carefully examined. In 11 individuals retinal detachment have been observed. Additionally, myopic degeneration of the central retina (15 cases), degeneration of the peripherial retina (20 subjects), AMD (4 subjects), hypertrophy of the RPE (2 subjects), CNV (1 case), striae medullares (1 case) and macular foramen (1 case), have been identified. CONCLUSIONS: In the affected individuals (presented with high myopia) changes of the eye fundus and retinal detachment were more frequently observed comparing to unaffected members of the families without high myopia. In unaffected individuals genetic factor seems to play insignificant role in apperance of fundus. Changes within central retina in the high myopia individuals may conduce to severe visual impairment.


Assuntos
Fundo de Olho , Miopia/complicações , Miopia/diagnóstico , Doenças Retinianas/diagnóstico , Doenças Retinianas/etiologia , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Criança , Pré-Escolar , Feminino , Humanos , Pressão Intraocular , Masculino , Pessoa de Meia-Idade , Oftalmoscopia , Refração Ocular , Degeneração Retiniana/etiologia , Descolamento Retiniano/etiologia , Perfurações Retinianas/etiologia , Índice de Gravidade de Doença , Acuidade Visual
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