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1.
Int Ophthalmol ; 40(3): 703-708, 2020 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-31758507

RESUMEN

HEADINGS: Multifocal electroretinography (mfERG) may be useful in the management of sector retinitis pigmentosa (SRP). AIM: To compare multifocal electroretinographic responses in SRP, generalised retinitis pigmentosa (GRP), and healthy controls. METHODS: Eighteen patients with SRP, twelve with GRP, and fifteen controls were included in the study. All participants underwent: complete ophthalmological examination, Humphrey visual field testing, full-field ERG, and mfERG. The mean P1 amplitude, the implicit time (IT), and the mapping of the local responses were evaluated. RESULTS: The mean P1 amplitude was higher in the SRPs than in GRPs (p < 0.001), while it did not differ between SRPs and controls (p = 0.913). In the SRPs, the P1 amplitude in pathologic areas was higher than in the GRPs (p < 0.001). In normal areas, this parameter did not differ from the controls (p = 0.499). Moreover, in the SRPs, no differences in the P1 amplitude and the IT between pigmented and non-pigmented areas were found. CONCLUSION: In the present study, the mfERG examination displayed significant differences between sector and generalised RP, showing normal values in sector RP even in pigmented areas. Considering the patients included in this study, SRP seems to represent a favourable variant of the disease, characterised by a limited retinal involvement and apparently mild functional damage. It is still unclear how these results can be extended to other forms of SRP.


Asunto(s)
Electrorretinografía/métodos , Retina/fisiopatología , Retinitis Pigmentosa/fisiopatología , Agudeza Visual , Campos Visuales/fisiología , Adulto , Femenino , Humanos , Masculino , Retinitis Pigmentosa/diagnóstico , Pruebas del Campo Visual
2.
Ophthalmologica ; 238(1-2): 44-51, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-28641290

RESUMEN

PURPOSE: To evaluate the long-term outcomes of intravitreal anti-vascular endothelial growth factor (VEGF) drugs with a pro re nata (PRN) regimen for the treatment of choroidal neovascularization (CNV) secondary to angioid streaks (AS). METHODS: This is a retrospective, multicenter, noncomparative case series of consecutive AS eyes affected by treatment-naïve CNV. A complete ophthalmologic examination was performed every 30-45 days after the loading phase, including fluorescein angiography and/or optical coherence tomography. RESULTS: In all, 52 eyes of 39 patients were treated with intravitreal bevacizumab and/or ranibizumab and followed up for a mean of 33.8 months. The best corrected visual acuity at baseline was 20/40, and it deteriorated by an average of 6.8 ETDRS letters per year (p < 0.001). We performed an average of 5.1, 6.5, and 6.8 injections at the 1-, 2-, and 3-year follow-up, respectively. CONCLUSIONS: Intravitreal anti-VEGF drugs in a PRN regimen with close monitoring appear to slow the progression of CNV in AS, but they do not prevent the affected eyes from progressive visual loss.


Asunto(s)
Estrías Angioides/complicaciones , Bevacizumab/administración & dosificación , Coroides/patología , Neovascularización Coroidal/diagnóstico , Ranibizumab/administración & dosificación , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Agudeza Visual , Inhibidores de la Angiogénesis/administración & dosificación , Estrías Angioides/diagnóstico , Estrías Angioides/tratamiento farmacológico , Coroides/efectos de los fármacos , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Coroidal/etiología , Angiografía con Fluoresceína/métodos , Estudios de Seguimiento , Fondo de Ojo , Humanos , Inyecciones Intravítreas , Masculino , Persona de Mediana Edad , Estudios Retrospectivos , Factores de Tiempo , Tomografía de Coherencia Óptica/métodos , Resultado del Tratamiento
3.
BMC Ophthalmol ; 16: 13, 2016 Jan 22.
Artículo en Inglés | MEDLINE | ID: mdl-26801981

RESUMEN

BACKGROUND: Stargardt's disease (STGD) and Retinitis Pigmentosa (RP) are inherited retinal degenerations that may be affected, in opposite way, by diet. METHODS: Dietary profile was assessed in 24 patients with STGD and in 56 patients with RP. We documented in only 6 out of 24 (25%) STGD patients a daily intake of vitamin A within the recommended range while 14/24 (58.3%) reported a high daily intake and 4/24 (16.7%) showed a low daily intake. With regard to RP, 4/56 (7.1%) reported to be within the recommended range, 37/56 (66.1%) reported high daily intake and 15/56 (26.8%) showed low daily intake of vitamin A. RESULTS: Interestingly, STGD patients with low vitamin A intake (<600 µg RAE/day) showed significantly better visual acuity with respect to those introducing higher intake of vitamin A. CONCLUSION: The present study suggests insuitable nutrient intakes among patients with STGD and RP, especially for daily intake of vitamin A. The results may be used to provide tailored nutritional interventions in these patients.


Asunto(s)
Dieta , Conducta Alimentaria , Degeneración Macular/congénito , Evaluación Nutricional , Retinitis Pigmentosa/fisiopatología , Vitamina A/administración & dosificación , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Encuestas sobre Dietas , Ingestión de Energía , Femenino , Humanos , Degeneración Macular/diagnóstico , Degeneración Macular/dietoterapia , Degeneración Macular/fisiopatología , Masculino , Persona de Mediana Edad , Retinitis Pigmentosa/diagnóstico , Retinitis Pigmentosa/dietoterapia , Enfermedad de Stargardt , Agudeza Visual , Adulto Joven
4.
Mol Vis ; 20: 1717-31, 2014.
Artículo en Inglés | MEDLINE | ID: mdl-25558175

RESUMEN

PURPOSE: To analyze the spectrum of sequence variants in the MYO7A and USH2A genes in a group of Italian patients affected by Usher syndrome (USH). METHODS: Thirty-six Italian patients with a diagnosis of USH were recruited. They received a standard ophthalmologic examination, visual field testing, optical coherence tomography (OCT) scan, and electrophysiological tests. Fluorescein angiography and fundus autofluorescence imaging were performed in selected cases. All the patients underwent an audiologic examination for the 0.25-8,000 Hz frequencies. Vestibular function was evaluated with specific tests. DNA samples were analyzed for sequence variants of the MYO7A gene (for USH1) and the USH2A gene (for USH2) with direct sequencing techniques. A few patients were analyzed for both genes. RESULTS: In the MYO7A gene, ten missense variants were found; three patients were compound heterozygous, and two were homozygous. Thirty-four USH2A gene variants were detected, including eight missense variants, nine nonsense variants, six splicing variants, and 11 duplications/deletions; 19 patients were compound heterozygous, and three were homozygous. Four MYO7A and 17 USH2A variants have already been described in the literature. Among the novel mutations there are four USH2A large deletions, detected with multiplex ligation dependent probe amplification (MLPA) technology. Two potentially pathogenic variants were found in 27 patients (75%). Affected patients showed variable clinical pictures without a clear genotype-phenotype correlation. CONCLUSIONS: Ten variants in the MYO7A gene and 34 variants in the USH2A gene were detected in Italian patients with USH at a high detection rate. A selective analysis of these genes may be valuable for molecular analysis, combining diagnostic efficiency with little time wastage and less resource consumption.


Asunto(s)
Proteínas de la Matriz Extracelular/genética , Variación Genética , Miosinas/genética , Síndromes de Usher/genética , Adolescente , Adulto , Anciano , Sustitución de Aminoácidos , Femenino , Humanos , Italia , Masculino , Persona de Mediana Edad , Mutación Missense , Miosina VIIa , Linaje , Polimorfismo de Nucleótido Simple , Análisis de Secuencia de ADN , Eliminación de Secuencia , Síndromes de Usher/patología , Síndromes de Usher/fisiopatología , Adulto Joven
5.
Ophthalmology ; 121(3): 682-92.e2, 2014 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-24326106

RESUMEN

OBJECTIVE: To compare the efficacy and safety of ranibizumab 0.5 mg, guided by visual acuity (VA) stabilization or disease activity criteria, versus verteporfin photodynamic therapy (vPDT) in patients with visual impairment due to myopic choroidal neovascularization (CNV). DESIGN: Phase III, 12-month, randomized, double-masked, multicenter, active-controlled study. PARTICIPANTS: Patients (N = 277) with visual impairment due to myopic CNV. METHODS: Patients were randomized to receive ranibizumab on day 1, month 1, and thereafter as needed guided by VA stabilization criteria (group I, n = 106); ranibizumab on day 1 and thereafter as needed guided by disease activity criteria (group II, n=116); or vPDT on day 1 and disease activity treated with ranibizumab or vPDT at investigators' discretion from month 3 (group III, n = 55). MAIN OUTCOME MEASURES: Mean average best-corrected visual acuity (BCVA) change from baseline to month 1 through months 3 (primary) and 6, mean BCVA change and safety over 12 months. RESULTS: Ranibizumab treatment in groups I and II was superior to vPDT based on mean average BCVA change from baseline to month 1 through month 3 (group I: +10.5, group II: +10.6 vs. group III: +2.2 Early Treatment Diabetic Retinopathy Study [ETDRS] letters; both P<0.0001). Ranibizumab treatment guided by disease activity was noninferior to VA stabilization-guided retreatment based on mean average BCVA change from baseline to month 1 through month 6 (group II: +11.7 vs. group I: +11.9 ETDRS letters; P<0.00001). Mean BCVA change from baseline to month 12 was +13.8 (group I), +14.4 (group II), and +9.3 ETDRS letters (group III). At month 12, 63.8% to 65.7% of patients showed resolution of myopic CNV leakage. Patients received a median of 4.0 (group I) and 2.0 (groups II and III) ranibizumab injections over 12 months. No deaths or cases of endophthalmitis and myocardial infarction occurred. CONCLUSIONS: Ranibizumab treatment, irrespective of retreatment criteria, provided superior BCVA gains versus vPDT up to month 3. Ranibizumab treatment guided by disease activity criteria was noninferior to VA stabilization criteria up to month 6. Over 12 months, individualized ranibizumab treatment was effective in improving and sustaining BCVA and was generally well tolerated in patients with myopic CNV.


Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Neovascularización Coroidal/tratamiento farmacológico , Miopía Degenerativa/complicaciones , Fotoquimioterapia , Inhibidores de la Angiogénesis/efectos adversos , Anticuerpos Monoclonales Humanizados/efectos adversos , Neovascularización Coroidal/diagnóstico , Neovascularización Coroidal/etiología , Método Doble Ciego , Femenino , Angiografía con Fluoresceína , Humanos , Inyecciones Intravítreas , Masculino , Persona de Mediana Edad , Miopía Degenerativa/diagnóstico , Fármacos Fotosensibilizantes/uso terapéutico , Porfirinas/uso terapéutico , Ranibizumab , Retratamiento , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Verteporfina , Agudeza Visual
6.
Retina ; 34(5): 860-7, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24756034

RESUMEN

PURPOSE: To evaluate the efficacy of intravitreal ranibizumab with a "pro re nata" regimen in the treatment of nonsubfoveal neovascular membranes secondary to age-related macular degeneration. METHODS: Retrospective noncomparative case series. Thirty-one eyes with naive nonsubfoveal neovascularization secondary to age-related macular degeneration were consecutively enrolled and treated with ranibizumab intravitreal injections according to a pro re nata regimen. The follow-up was performed monthly up to 6 months and quarterly up to 2 years (25 patients). Early treatment diabetic retinopathy study best-corrected visual acuity and lesion size analysis with fluorescein angiography were recorded. RESULTS: The mean baseline early treatment diabetic retinopathy study best-corrected visual acuity worsened from 20/40 (0.28 logMAR) at baseline to 20/50 (0.42 logMAR) at 1-year follow-up and 20/60 (0.53 logMAR) at 2-year follow-up. The mean lesions size nearly doubled from baseline at the 2-year follow up (1.19-2.47 mm). Twenty-two patients had one or more recurrences at 1-year follow-up. All 25 patients developed a recurrence at 2 years with 7 cases developing a recurrence by 12 months. Twelve cases progressed to subfoveal lesions by the 24-month visit. CONCLUSION: Other regimens described in the literature might result in a more the satisfactory outcome using more frequent follow-up and more frequent intravitreal injections.


Asunto(s)
Inhibidores de la Angiogénesis/uso terapéutico , Anticuerpos Monoclonales Humanizados/uso terapéutico , Neovascularización Coroidal/tratamiento farmacológico , Fóvea Central , Degeneración Macular Húmeda/tratamiento farmacológico , Anciano , Anciano de 80 o más Años , Inhibidores de la Angiogénesis/administración & dosificación , Anticuerpos Monoclonales Humanizados/administración & dosificación , Neovascularización Coroidal/fisiopatología , Colorantes , Femenino , Angiografía con Fluoresceína , Humanos , Verde de Indocianina , Inyecciones Intravítreas , Masculino , Persona de Mediana Edad , Ranibizumab , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Factor A de Crecimiento Endotelial Vascular/antagonistas & inhibidores , Agudeza Visual/fisiología , Degeneración Macular Húmeda/diagnóstico , Degeneración Macular Húmeda/fisiopatología
7.
Ophthalmology ; 120(11): 2286-91, 2013 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-23769332

RESUMEN

BACKGROUND: Endophthalmitis is a rare but severe complication of vitrectomy. CLINICAL RELEVANCE: Post-surgical endophthalmitis is suspected to be more frequent after microincisional (23- and 25-gauge) compared with standard (20-gauge) vitrectomy. METHODS: We conducted a systematic review of studies that compared microincisional and standard vitrectomy by searching MEDLINE and EMBASE up to November 2012. We used the Bayesian meta-analysis method to compute the odds ratio (OR) of endophthalmitis. We conducted subgroup analyses to compare the effect of different incision types and use of perioperative antibiotics. RESULTS: We identified 3 small randomized and 18 nonrandomized studies that reported 68 cases of endophthalmitis in 148 643 participants. The overall OR of endophthalmitis for microincisional versus standard vitrectomy was 2.3 (95% credible interval [CrI], 0.8-5.8). We found an increased risk of endophthalmitis using a microincisional straight approach compared with standard vitrectomy (OR, 15.1; 95% CrI, 2.01-179), but not for a beveled approach (OR, 0.82; 95% CrI, 0.23-2.28). The OR of studies that reported on mixed microincision was between these 2 values (OR, 4.4; 95% CrI, 1.32-14.3). We estimated that the overall rate of endophthalmitis with 20-gauge vitrectomy was 3 cases in 10 000 procedures, and the probability that a beveled microincision increases the rate of endophthalmitis to more than 6 or 9 events was small (no more than 5% or 1%, respectively). CONCLUSIONS: We did not find an increased risk of endophthalmitis for microincisional vitrectomy compared with standard vitrectomy. The beveled approach seems to be safer than a straight approach, supporting the current recommendation of its adoption in microincisional vitrectomy. However, these findings must be interpreted cautiously because of the small number of endophthalmitis events reported from included studies.


Asunto(s)
Endoftalmitis/etiología , Microcirugia/métodos , Complicaciones Posoperatorias , Vitrectomía/métodos , Bases de Datos Factuales , Humanos , Factores de Riesgo
8.
Mol Vis ; 18: 2736-48, 2012.
Artículo en Inglés | MEDLINE | ID: mdl-23213274

RESUMEN

PURPOSE: To analyze the spectrum of sequence variants in the BEST1 gene in a group of Italian patients affected by Best vitelliform macular dystrophy (VMD). METHODS: Thirty Italian patients with a diagnosis of VMD and 20 clinically healthy relatives were recruited. They belonged to 19 Italian families predominantly originating from central Italy. They received a standard ophthalmologic examination, OCT scan, and electrophysiological tests (ERG and EOG). Fluorescein and ICG angiographies and fundus autofluorescence imaging were performed in selected cases. DNA samples were analyzed for sequence variants of the BEST1 gene by direct sequencing techniques. RESULTS: Nine missense variants and one deletion were found in the affected patients; each patient carried one mutation. Five variants [c.73C>T (p.Arg25Trp), c.652C>T (p.Arg218Cys), c.652C>G (p.Arg218Gly), c.728C>T (p.Ala243Val), c.893T>C (p.Phe298Ser)] have already been described in literature while another five variants [c.217A>C (p.Ile73Leu), c.239T>G (p.Phe80Cys), c.883_885del (p.Ile295del), c.907G>A (p.Asp303Asn), c.911A>G (p.Asp304Gly)] had not previously been reported. Affected patients, sometimes even from the same family, occasionally showed variable phenotypes. One heterozygous variant was also found in five clinically healthy relatives with normal fundus, visual acuity and ERG but with abnormal EOG. CONCLUSIONS: Ten variants in the BEST1 gene were detected in a group of individuals with clinically apparent VMD, and in some clinically normal individuals with an abnormal EOG. The high prevalence of novel variants and the frequent report of a specific variant (p.Arg25Trp) that has rarely been described in other ethnic groups suggests a distribution of BEST1 variants peculiar to Italian VMD patients.


Asunto(s)
Canales de Cloruro/genética , Proteínas del Ojo/genética , Mutación , Polimorfismo de Nucleótido Simple , Distrofia Macular Viteliforme/genética , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Alelos , Bestrofinas , Estudios de Casos y Controles , Niño , Femenino , Frecuencia de los Genes , Genotipo , Humanos , Italia , Masculino , Persona de Mediana Edad , Fenotipo , Análisis de Secuencia de ADN
9.
J Refract Surg ; 28(8): 562-6, 2012 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-22785060

RESUMEN

PURPOSE: To compare minimum corneal pachymetry assessment using three measurement methods in eyes before and after corneal collagen cross-linking (CXL) for keratoconus. METHODS: Fifty patients (54 eyes) who underwent CXL for keratoconus were evaluated with the Visante (Carl Zeiss Meditec), Pentacam (Oculus Optikgeräte GmbH), and ultrasound pachymetry (USP) (Optikon Pacline) to assess corneal thickness at baseline and 1, 3, 6, and 12 months after treatment. RESULTS: Using USP, mean thickness was 456 µm at baseline, decreased by approximately 8 µm at 1 month, and then recovered to initial values. The mean difference between Visante and USP was statistically significant, but not clinically significant, and was similar at baseline and after CXL (-1 to -2 µm, P<.05 except for 12 months). Pentacam had similar readings at baseline (-2 µm vs USP), but lower corneal thickness after CXL (-12 to -20 µm throughout follow-up, P<.001). The width of the Bland-Altman 95% agreement interval of Visante and Pentacam with USP was approximately 5 µm and 15 µm, respectively. CONCLUSIONS: Visante pachymetry shows better agreement with USP compared to Pentacam after CXL, which may be due to the inhomogeneous reflectivity of the postoperative cross-linked cornea and possibly altered refractive index and acoustic impedance that may influence the observed differences among techniques.


Asunto(s)
Córnea/patología , Reactivos de Enlaces Cruzados/uso terapéutico , Técnicas de Diagnóstico Oftalmológico , Queratocono/diagnóstico , Adulto , Biometría/métodos , Colágeno/metabolismo , Sustancia Propia/metabolismo , Topografía de la Córnea , Femenino , Humanos , Queratocono/tratamiento farmacológico , Queratocono/metabolismo , Masculino , Fármacos Fotosensibilizantes/uso terapéutico , Riboflavina/uso terapéutico , Tomografía de Coherencia Óptica , Ultrasonografía , Rayos Ultravioleta
10.
Retina ; 32(8): 1547-52, 2012 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-22481476

RESUMEN

PURPOSE: The purpose of our study was to determine the long-term visual and anatomic outcomes of photodynamic therapy in patients affected with choroidal neovascularization secondary to pathologic myopia. METHODS: We retrospectively evaluated 43 eyes of 43 patients. Patients with pathologic myopia were included if they had received photodynamic therapy for choroidal neovascularization involving the center of the avascular foveal zone and if they had a follow-up of at least 5 years. We included only the cases for which both of the examiners of the FAs were in agreement concerning the subfoveal localization of choroidal neovascularization. Patients treated with other therapies such as anti-vascular endothelial growth factor or steroids in the study eye were excluded. Visual acuity was measured using Early Treatment Diabetic Retinopathy Study charts. Anatomic outcome measures were the lesion size expressed as the greatest linear diameter and the chorioretinal atrophy that developed around the regressed choroidal neovascularization. RESULTS: Average visual acuity was stable during the first year, tended to be worse at 2 years, whereas it was significantly worse at 3 years and afterward, reaching a loss of nearly 3 lines at 7 years. We found that neither the number of photodynamic therapy treatments nor baseline photodynamic therapy spot size influenced change of visual acuity during follow-up. Chorioretinal atrophy around choroidal neovascularization was detected in 83% of patients at the 5-year follow-up visit. CONCLUSION: The results showed that visual acuity decreased significantly after a long follow-up period mainly because of the development of chorioretinal atrophy.


Asunto(s)
Neovascularización Coroidal/tratamiento farmacológico , Miopía Degenerativa/tratamiento farmacológico , Fotoquimioterapia , Adulto , Anciano , Neovascularización Coroidal/etiología , Femenino , Angiografía con Fluoresceína , Estudios de Seguimiento , Humanos , Masculino , Persona de Mediana Edad , Miopía Degenerativa/complicaciones , Fármacos Fotosensibilizantes/uso terapéutico , Porfirinas/uso terapéutico , Estudios Retrospectivos , Tomografía de Coherencia Óptica , Resultado del Tratamiento , Verteporfina , Agudeza Visual/fisiología
11.
Mol Vis ; 17: 3078-87, 2011.
Artículo en Inglés | MEDLINE | ID: mdl-22162627

RESUMEN

PURPOSE: To report on the phenotype and the genotype of Italian patients carrying BEST1 mutations on both alleles. METHODS: Five Italian patients from four independent pedigrees with retinal dystrophy associated with biallelic BEST1 variants were recruited from different parts of Italy. Molecular genetic analysis of the BEST1 gene was performed with direct sequencing techniques. All the subjects included in the study were clinically evaluated with a standard ophthalmologic examination, fundus photography, optical coherence tomography scan, and electrophysiological investigations. RESULTS: Six BEST1 variants were identified. Three, c.1699del (p.Glu557AsnfsX52), c.625delAAC (p.Asn179del), and c.139C>T (p.Arg47Cys), were novel, and three had already been reported in the literature, c.301C>A(p.Pro101Thr), c.934G>A (p.Asp312Asn), and c.638A>G (p.Glu213Gly). Four were missense mutations, and two were deletions. Only one BEST1 mutation was located within one of the four mutational clusters described in typical autosomal dominant Best vitelliform macular dystrophy (BVMD). Four patients showed a BVMD phenotype while one patient presented a clinical picture consistent with autosomal recessive bestrophinopathy (ARB). CONCLUSIONS: Biallelic BEST1 sequence variants can be associated with at least two different phenotypes: BVMD and ARB. The phenotypic result of the molecular changes probably depends on the characteristics and the combination of the different BEST1 mutations, but unknown modifying factors such as other genes or the environment may also play a role.


Asunto(s)
Canales de Cloruro/genética , Proteínas del Ojo/genética , Mutación Missense , Retina/metabolismo , Eliminación de Secuencia , Distrofia Macular Viteliforme/genética , Adolescente , Adulto , Alelos , Bestrofinas , Estudios de Casos y Controles , Niño , Análisis Mutacional de ADN , Electrooculografía , Femenino , Genes Recesivos , Genotipo , Homocigoto , Humanos , Italia , Masculino , Persona de Mediana Edad , Linaje , Fenotipo , Retina/patología , Tomografía de Coherencia Óptica , Distrofia Macular Viteliforme/metabolismo
12.
Retina ; 31(4): 724-9, 2011 Apr.
Artículo en Inglés | MEDLINE | ID: mdl-21178660

RESUMEN

PURPOSE: To investigate atherosclerotic and thrombophilic risk factors in patients affected by acute ischemic and nonischemic central retinal vein occlusions (CRVOs). METHODS: One hundred and three patients with acute unilateral CRVO (41 ischemic and 62 nonischemic) were studied. The frequency of traditional cardiovascular risk factors was assessed, and the plasma levels of a variety of thrombophilic markers were measured. Univariate logistic regression was performed to determine risk factors for ischemic CRVO. RESULTS: Arterial hypertension, hypercholesterolemia, postmethionine hyperhomocysteinemia (HHcy), elevated factor VIII, and reduced folic acid and B6 plasma levels were more frequent in patients with ischemic CRVO than in those with nonischemic CRVO (P = 0.030, P = 0.025, P = 0.011, P < 0.001, P < 0.001, and P = 0.044, respectively). Risk factors for ischemic CRVO were arterial hypertension (odds ratio [OR], 3.22; 95% confidence interval [CI], 1.13-9.21; P = 0.037), hypercholesterolemia (OR, 3.03; 95% CI, 1.06-8.65; P = 0.042), reduced folic acid levels (OR, 6.77; 95% CI, 1.59-28.79; P = 0.011), and elevated FVIII levels (OR, 6.17; 95% CI, 2.56-14.82; P < 0.001). Postmethionine HHcy was associated with low folic acid levels (r = -0.413; P = 0.007; OR, 9.33; 95% CI, 2.06-42.18; P = 0.005). CONCLUSION: The results of the present study suggest that some atherosclerotic and thrombophilic risk factors may increase the risk of having an ischemic form of CRVO.


Asunto(s)
Aterosclerosis/complicaciones , Isquemia/etiología , Oclusión de la Vena Retiniana/etiología , Trombofilia/complicaciones , Enfermedad Aguda , Anciano , Aterosclerosis/sangre , Biomarcadores/sangre , Dislipidemias/complicaciones , Factor VIII/metabolismo , Femenino , Ácido Fólico/sangre , Homocisteína/sangre , Humanos , Hiperhomocisteinemia/complicaciones , Hipertensión/complicaciones , Isquemia/sangre , Masculino , Oclusión de la Vena Retiniana/sangre , Factores de Riesgo , Trombofilia/sangre
13.
Ophthalmic Surg Lasers Imaging ; 41(1): 48-53, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20128570

RESUMEN

BACKGROUND AND OBJECTIVE: Stargardt disease is a type of juvenile-onset macular dystrophy. The clinical presentation is characterized by macular atrophy and the presence of lipofuscin storage. The aim of this study was to investigate a possible correlation between different ABCA4 gene mutations and the autofluorescence pattern. PATIENTS AND METHODS: Twenty patients with Stargardt disease were examined for ABCA4 gene mutations and were administered fundus autofluorescence examinations. RESULTS: Autofluorescence imaging demonstrated different patterns. ABCA4 gene analysis exhibited 16 missense mutations, 4 stop mutations, 4 splicing mutations, 3 deletions, and 1 insertion randomly distributed in the two alleles. CONCLUSION: The presence of two severe mutations in the two alleles was associated with a larger atrophy of the retinal pigment epithelium in the macular area.


Asunto(s)
Transportadoras de Casetes de Unión a ATP/genética , ADN/genética , Angiografía con Fluoresceína/métodos , Degeneración Macular/genética , Mutación , Retina/patología , Adulto , Cromatografía Líquida de Alta Presión , Análisis Mutacional de ADN , Progresión de la Enfermedad , Electrorretinografía , Fondo de Ojo , Humanos , Degeneración Macular/patología , Fenotipo , Segmento Externo de la Célula en Bastón/patología , Adulto Joven
14.
Clin Exp Ophthalmol ; 38(1): 49-56, 2010 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-20447101

RESUMEN

PURPOSE: To evaluate the effects of corneal cross-linking on keratocytes and collagen fibres in human corneas. METHODS: Fifteen corneal buttons were examined. Ten were from patients with keratoconus submitted to penetrating keratoplasty and five of them were treated with cross-linking 6 months before penetrating keratoplasty. Five normal corneal buttons from healthy donors were used as controls. All samples were prepared for TUNEL assay and Western blot analysis for the detection of keratocyte apoptosis and immunohistochemical analysis for the morphological evaluation of keratocytes and collagen fibre diameter. RESULTS: Normal corneas exhibited no TUNEL-positive keratocytes and keratoconic and cross-linked corneas showed moderate apoptotic cells mainly in the anterior part of the stroma. This apoptotic trend was confirmed by the cleavage of poly (ADP-ribose) polymerase assessed using Western blot. The Ki-67 staining showed a significant increase in the keratocyte proliferation in cross-linked corneas compared with normal and keratoconus. In cross-linked corneas CD34-positive keratocytes were regularly distributed throughout the whole corneal stroma as in the control, and keratoconus was associated with patchy loss of immunoreactivity. The immunohistochemical analysis of collagen type I showed a significant increase in fibre diameter of cross-linked corneas compared with control and keratoconus. CONCLUSION: Corneal cross-linking leads to keratocyte damage; after 6 months a repopulation by proliferating cells, a distribution of CD34-positive keratocytes as in control and an increase in collagen fibre diameter were observed. These modifications are the morphological correlate of the process leading to an increase in biomechanical stability.


Asunto(s)
Colágeno/metabolismo , Sustancia Propia/metabolismo , Sustancia Propia/patología , Queratocono/tratamiento farmacológico , Fotoquimioterapia , Fármacos Fotosensibilizantes/uso terapéutico , Riboflavina/uso terapéutico , Rayos Ultravioleta , Adulto , Antígenos CD34/metabolismo , Apoptosis/efectos de los fármacos , Western Blotting , Proliferación Celular , Fibroblastos/patología , Humanos , Técnicas para Inmunoenzimas , Etiquetado Corte-Fin in Situ , Queratocono/metabolismo , Queratocono/cirugía , Queratoplastia Penetrante , Antígeno Ki-67/metabolismo
15.
Eur J Ophthalmol ; 20(4): 776-9, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-20099230

RESUMEN

PURPOSE: To describe the in vivo confocal microscopy corneal findings in a patient treated with gold sodium thiomalate. METHODS: A woman with rheumatoid arthritis who had been treated with gold sodium thiomalate for 32 years came to our center for an ophthalmologic examination about 5 years ago. Besides visual acuity, the examination included slit-lamp biomicroscopy, intraocular pressure, and funduscopy. Confocal microscopy was performed using Confoscan 4 (Nidek Technologies, Padova, Italy) with a 40x lens. RESULTS: Every layer of the cornea is affected by gold deposits with high reflectivity, especially in the anterior stroma, where they have a larger dimension. CONCLUSIONS: Corneal chrysiasis can be evaluated by confocal microscopy, giving information on corneal metabolism and physiology.


Asunto(s)
Córnea/patología , Enfermedades de la Córnea/patología , Tiomalato Sódico de Oro/efectos adversos , Microscopía Confocal/métodos , Anciano , Antirreumáticos/efectos adversos , Artritis Reumatoide/tratamiento farmacológico , Córnea/efectos de los fármacos , Enfermedades de la Córnea/inducido químicamente , Diagnóstico Diferencial , Femenino , Humanos , Reproducibilidad de los Resultados
16.
Eur J Ophthalmol ; 20(2): 389-96, 2010.
Artículo en Inglés | MEDLINE | ID: mdl-19882511

RESUMEN

PURPOSE: To investigate the reliability of the Reading Explorer (REX) charts and to assess the impact of text contrast reduction (1.5 cycle/degree) on reading speed in subjects with normal and low vision. METHODS: Standard visual acuity (ETDRS charts), reading speed (MNread charts), and contrast sensitivity (Pelli-Robson charts) measurements were obtained in 3 groups of subjects stratified by visual acuity level in the better eye from 0.0 to 1.0 logMAR, with intermediate cutoffs at 0.3 and 0.6 logMAR. Measurements of reading speed for decreasing levels of text contrast were obtained with the REX charts using a 1.5 cycle/degree text. RESULTS: Since in many patients with lower vision a plateau of maximum reading speed across different levels of text contrast was not found, reliability indexes were computed for average reading speed and reading contrast threshold. In the group with lower visual acuity, 95% limits of agreement were +/-0.134 log word/minute and +/-0.175 log contrast sensitivity, suggesting good reliability. The proportion of subjects with a 20% loss of reading speed from 90% to 45% text contrast was estimated to be 1/3 at 0.6 logMAR visual acuity level and 2/3 at 1.0 logMAR. CONCLUSIONS: The adverse effect of decreased text contrast, which may be found in ordinary reading material, on the reading performance of subjects with advanced and initial low vision is probably underestimated. The REX test proved to be a reliable investigation tool for this phenomenon.


Asunto(s)
Sensibilidad de Contraste/fisiología , Lectura , Pruebas de Visión/métodos , Baja Visión/fisiopatología , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Humanos , Persona de Mediana Edad , Curva ROC , Reproducibilidad de los Resultados , Baja Visión/diagnóstico , Adulto Joven
17.
Graefes Arch Clin Exp Ophthalmol ; 247(5): 693-7, 2009 May.
Artículo en Inglés | MEDLINE | ID: mdl-19052769

RESUMEN

BACKGROUND: Non-arteritic anterior ischemic optic neuropathy (NAION) is a multifactorial disease that is caused by an infarction of the vessels that supply the optic nerve head. This study aims at evaluating the role of traditional and emerging cardiovascular risk factors on the development of NAION. METHODS: A total of 85 newly diagnosed NAION patients and 107 age- and gender-matched healthy controls were studied. All participants underwent blood testing for homocysteine and lipoprotein(a). Plasma levels of vitamin B6 and B12, and folic acid were also determined. Plasma values of all these parameters were evaluated as continuous variables, by a logarithmic transformation. In addition, traditional cardiovascular risk factors were considered. RESULTS: With univariate analysis, higher values of homocysteine and Lp(a) (OR 4.24, 95% CI 2.01-8.94, p < 0.0001; OR 1.32, 95% CI 1.04-1.67, p = 0.03, respectively) and lower values of vitamin B6 (OR 0.44, 95% CI 0.25-0.76, p = 0.003) were significantly associated with NAION. At multivariate analysis, adjusted for age, gender, smoking habit, hypertension, dyslipidemia, diabetes, sleep apnea, and thrombophilic risk factors, the higher homocysteine and Lp(a) values (OR 5.74, 95% CI 2.41-13.67, p = 0.0001; OR 1.27, 95% CI 1.01-1.63, p = 0.04) and lower vitamin B6 values (OR 0.42, 95% CI 0.23-0.77, p = 0.005) maintained their significant relationship with NAION. CONCLUSIONS: This study demonstrated that elevated plasma homocysteine and lipoprotein(a) levels, as well as low vitamin B6 levels, may increase the risk of developing NAION. A screening for these thrombophilic markers could be useful in subjects experiencing NAION.


Asunto(s)
Enfermedades Cardiovasculares/complicaciones , Neuropatía Óptica Isquémica/etiología , Trombofilia/complicaciones , Adulto , Anciano , Anciano de 80 o más Años , Enfermedades Cardiovasculares/sangre , Enfermedades Cardiovasculares/fisiopatología , Estudios de Casos y Controles , Dislipidemias/complicaciones , Ensayo de Inmunoadsorción Enzimática , Femenino , Ácido Fólico/sangre , Homocisteína/sangre , Humanos , Hipertensión/complicaciones , Lipoproteína(a)/sangre , Masculino , Persona de Mediana Edad , Neuropatía Óptica Isquémica/sangre , Neuropatía Óptica Isquémica/fisiopatología , Factores de Riesgo , Trombofilia/sangre , Trombofilia/fisiopatología , Vitamina B 12/sangre , Vitamina B 6/sangre
18.
Retina ; 29(8): 1111-8, 2009 Sep.
Artículo en Inglés | MEDLINE | ID: mdl-19491726

RESUMEN

PURPOSE: To assess whether reading ability and microperimetry improve as demonstrated for visual acuity after surgery for macular hole and macular pucker. METHODS: Fifty-nine consecutive patients underwent pars plana vitrectomy for macular pucker (n = 41) or full-thickness macular holes (n = 18). Functional assessment was made at 3, 6, and 12 months after surgery and included far visual acuity (Early Treatment Diabetic Retinopathy Study charts), retinal sensitivity using the microperimeter (MP1, Nidek Technologies, Padova, Italy), and reading ability (MNRead charts). RESULTS: An improvement was recorded both for macular holes and puckers not only for visual acuity, but also for reading acuity and mean central retinal sensitivity (P < 0.01 for the overall comparisons between baseline and follow-up values). Maximum reading speed was already good at baseline both for puckers and holes overall, and a significant mean improvement was recorded only in patients with macular hole at 6 and 12 months (P < 0.01). Although eyes with macular holes had worse baseline visual function compared with puckers (P < 0.01 for all measures of visual function except for reading speed), they recovered to similar levels thanks to greater improvement (P < 0.05 for the difference in improvement during follow-up between puckers and holes for all measures of visual function). No differences were found among indocyanine green or trypan blue staining compared with no staining for internal limiting membrane removal based on all outcome measures (P > 0.05 for the overall difference of visual function improvement during follow-up). CONCLUSION: The improvement found for visual acuity after vitrectomy for macular hole and pucker also regards retinal sensitivity and reading ability for up to 12 months. This is reassuring concerning the benefits for the patients, and this shows that visual acuity is a valid functional measure for investigating the efficacy of macular surgery.


Asunto(s)
Lectura , Retina/fisiología , Perforaciones de la Retina/cirugía , Anciano , Colorantes/uso terapéutico , Humanos , Verde de Indocianina/uso terapéutico , Calidad de Vida , Retina/cirugía , Perforaciones de la Retina/psicología , Resultado del Tratamiento , Azul de Tripano/uso terapéutico , Agudeza Visual , Vitrectomía/métodos
19.
Ophthalmologica ; 223(1): 24-7, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-18849633

RESUMEN

BACKGROUND: Intravitreal (IV) bevacizumab (Avastin(R), Roche), initially used for the off-label treatment of neovascular age-related macular degeneration (AMD), has extended itself to treat various ocular pathologies such as choroidal neovascularization not associated to AMD. METHODS: IV bevacizumab 1,25 mg (Avastin) was used in the treatment of choroidal neovascularization (CNV) in 6 eyes of 5 patients with angioid streaks. All cases had a history of photodynamic treatment (PDT) or laser treatment and all showed progressive worsening despite the use of these therapies. RESULTS: After injection patients were followed up at nearly 2-month intervals. IV Avastin was repeated in case of recurrence. Three eyes were treated combining PDT and IV Avastin. Cases were followed up for 7-14 months. All patients needed more IV injections. Five out of 6 eyes showed an improvement of BCVA and a slight reduction of leakage and size with FA. CONCLUSION: This small series suggests that IV Avastin might be useful in the treatment of CNV due to AS.


Asunto(s)
Inhibidores de la Angiogénesis/administración & dosificación , Estrías Angioides/complicaciones , Anticuerpos Monoclonales/administración & dosificación , Neovascularización Coroidal/tratamiento farmacológico , Neovascularización Coroidal/etiología , Anciano , Anticuerpos Monoclonales Humanizados , Bevacizumab , Neovascularización Coroidal/complicaciones , Neovascularización Coroidal/fisiopatología , Quimioterapia Combinada , Femenino , Angiografía con Fluoresceína , Estudios de Seguimiento , Hemorragia/diagnóstico , Hemorragia/etiología , Humanos , Inyecciones , Masculino , Registros Médicos , Persona de Mediana Edad , Fotoquimioterapia , Recurrencia , Retratamiento , Agudeza Visual/efectos de los fármacos , Cuerpo Vítreo
20.
Eur J Ophthalmol ; 19(6): 1004-8, 2009.
Artículo en Inglés | MEDLINE | ID: mdl-19882575

RESUMEN

PURPOSE: To compare ocular surface temperature (OST) measures in patients with nonproliferative diabetic retinopathy (NPDR) and healthy controls. METHODS: A total of 51 consecutive patients with different severity degrees of NPDR and 53 age- and gender-matched healthy volunteers were recruited. OST was evaluated by infrared thermography in five conjunctival (points 1, 2, 4, 5) and corneal (point 3) points. RESULTS: In diabetic eyes, OST values were lower than in controls at all the studied points (p<0.001 at points 1, 2, 3, 4, and p=0.003 at point 5). CONCLUSIONS: Ocular surface temperature measurements, by estimating ocular blood flow, may be helpful in the management of patients with diabetic retinopathy.


Asunto(s)
Temperatura Corporal/fisiología , Retinopatía Diabética/fisiopatología , Ojo/fisiopatología , Termografía/métodos , Anciano , Retinopatía Diabética/diagnóstico , Femenino , Humanos , Masculino , Proyectos Piloto
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