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1.
Genet Mol Res ; 13(4): 8815-33, 2014 Oct 27.
Artigo em Inglês | MEDLINE | ID: mdl-25366773

RESUMO

Mutations in more than 60 different genes have been associated with non-syndromic and syndromic retinitis pigmentosa (RP), a heterogeneous group of inherited retinal dystrophies. To increase the understanding of the molecular epidemiology of the disease in Italy, we analyzed 56 patients with syndromic and non-syndromic forms of RP attending the Retinitis Pigmentosa Center of San Paolo Hospital (Milan, Italy). Patients underwent detailed clinical examination. Genomic DNA isolated from peripheral blood samples was screened for mutations in different genes according to RP form by direct sequencing analysis. The impact of novel missense mutations on protein functions was predicted by in silico analysis and protein sequence alignment. Cosegregation analysis was performed between available family members. Forty-one of the 56 probands analyzed had non-syndromic and 15 had syndromic RP forms. Putative disease-causing mutations were identified in 19 of 56 unrelated RP probands. Mutation screening identified a total of 22 different heterozygous variants. Notably, 12 of these putative pathogenic mutations have not been previously reported. New variants were found to be located on the USH2A, RPGR, EYS, and RHO genes. All 3 new variants detected in X-linked RP probands were confirmed in other affected family members. We found a positivity rate of 24.4% and 60% for probands with non-syndromic and syndromic RP, respectively. This is the first report of RPGR X-linked RP proband-ORF15 mutations in Italian patients with X-linked (XL)-RP. In addition, this is the first report of data regarding the association between EYS mutations and non-syndromic RP forms in the Italian population.


Assuntos
Predisposição Genética para Doença/genética , Mutação , Retinose Pigmentar/genética , Retinose Pigmentar/patologia , Adulto , Idoso , Sequência de Aminoácidos , Sequência de Bases , Análise Mutacional de DNA , Proteínas da Matriz Extracelular/genética , Proteínas do Olho/genética , Saúde da Família , Feminino , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Rodopsina/genética , Homologia de Sequência de Aminoácidos , Síndrome , Adulto Jovem
2.
Eur J Ophthalmol ; 18(6): 922-8, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18988163

RESUMO

PURPOSE: To evaluate the effects of pneumatic trabeculoplasty (PNT) in ocular hypertension and glaucoma subjects. METHODS: A total of 63 consecutive subjects, either treated (79%) or untreated (21%), with intraocular pressure (IOP) between 20 and 25 mmHg were enrolled; the eye with higher IOP (or, in case of identical IOP, worse visual field) was treated with PNT, with the fellow eye used as control. Subjects underwent a baseline evaluation the day before treatment, two PNT treatments at day 0 and 7, visits at day 1, 8, 14, and at each month until the end of the study, which lasted 6 months. Safety was addressed at all visits; an IOP curve (at 8 and 10 AM, 2 and 4 PM) was obtained at baseline and during monthly visits. RESULTS: In PNT eyes, baseline IOP was 22.2-/+1.6 mmHg. Following PNT a statistically significant reduction of IOP occurred at all visits (p<0.0001), with a mean decrease ranging from -2.7-/+2.5 (-11.9-/+10.8%) to -3.6-/+2.6 mmHg (-16.0-/+11.6%); mean reduction was 12.8-/+11.5%. Although IOP diminished also in the control eyes after baseline (p<0.05), the change in IOP was significantly higher in PNT group at each visit (p<0.05). Mild side effects were experienced by 76% of subjects and they all resolved without sequelae. CONCLUSIONS: The results suggest the effect of this procedure in reducing IOP in glaucoma and ocular hypertensive subjects.


Assuntos
Glaucoma de Ângulo Aberto/cirurgia , Pressão Intraocular/fisiologia , Trabeculectomia/métodos , Vácuo , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Glaucoma de Ângulo Aberto/fisiopatologia , Gonioscopia , Humanos , Masculino , Pessoa de Meia-Idade , Hipertensão Ocular/fisiopatologia , Hipertensão Ocular/cirurgia , Estudos Prospectivos , Tonometria Ocular , Resultado do Tratamento
3.
Br J Ophthalmol ; 90(1): 24-8, 2006 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-16361661

RESUMO

AIM: To analyse 24 hour variations in intraocular pressure (IOP) and central corneal thickness (CCT) in a group of glaucomatous patients. METHODS: 30 patients with primary open angle glaucoma were hospitalised and underwent circadian evaluations (at 8 pm, midnight, 4 am, 8 am, noon, and 4 pm) of supine and sitting IOP, respectively, measured using a Perkins and a Goldmann tonometer, and CCT measured using an ultrasonic pachymeter (the mean value of three measurements within 5 mum). All patients were treated with timolol 0.5% twice daily and latanoprost 0.005% once daily. RESULTS: Mean supine IOP was 15.3 (SD 3.7) mm Hg (range 10-25), with circadian fluctuations of 7.3 (3.3) mm Hg. Mean sitting IOP was 15.1 (3.9) mm Hg (range 8-26), with circadian fluctuations of 5.4 (3.1) mm Hg. Mean CCT was 534 (39) microm (range 443-637 microm) with circadian fluctuations of 16.5 (6.2) microm (range 6-31 microm). Both the within patient and within time point fluctuations in CCT were statistically significant (p<0.0001, ANOVA). CONCLUSIONS: The authors found considerable fluctuations in 24 hour IOP. The circadian fluctuations in CCT were small and, although statistically significant, did not seem to interfere with the circadian IOP assessment.


Assuntos
Ritmo Circadiano , Córnea/patologia , Glaucoma de Ângulo Aberto/fisiopatologia , Pressão Intraocular , Idoso , Idoso de 80 Anos ou mais , Córnea/fisiopatologia , Feminino , Glaucoma de Ângulo Aberto/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Postura , Tonometria Ocular
4.
Br J Ophthalmol ; 89(10): 1245-9, 2005 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-16170109

RESUMO

BACKGROUND: Resource utilisation and direct costs associated with glaucoma progression in Europe are unknown. As population progressively ages, the economic impact of the disease will increase. METHODS: From a total of 1655 consecutive cases, the records of 194 patients were selected and stratified by disease severity. Record selection was based on diagnoses of primary open angle glaucoma, glaucoma suspect, ocular hypertension, or normal tension glaucoma; 5 years minimum follow up were required. Glaucoma severity was assessed using a six stage glaucoma staging system based on static threshold visual field parameters. Resource utilisation data were abstracted from the charts and unit costs were applied to estimate direct costs to the payer. Resource utilisation and estimated direct cost of treatment, per person year, were calculated. RESULTS: A statistically significant increasing linear trend (p = 0.018) in direct cost as disease severity worsened was demonstrated. The direct cost of treatment increased by an estimated 86 for each incremental step ranging from 455 euro per person year for stage 0 to 969 euro per person year for stage 4 disease. Medication costs ranged from 42% to 56% of total direct cost for all stages of disease. CONCLUSIONS: These results demonstrate for the first time in Europe that resource utilisation and direct medical costs of glaucoma management increase with worsening disease severity. Based on these findings, managing glaucoma and effectively delaying disease progression would be expected to significantly reduce the economic burden of this disease. These data are relevant to general practitioners and healthcare administrators who have a direct influence on the distribution of resources.


Assuntos
Glaucoma/economia , Custos de Cuidados de Saúde/estatística & dados numéricos , Recursos em Saúde/estatística & dados numéricos , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Custos de Medicamentos/estatística & dados numéricos , Europa (Continente) , Feminino , Seguimentos , Glaucoma/fisiopatologia , Glaucoma/terapia , Humanos , Masculino , Pessoa de Meia-Idade , Visita a Consultório Médico/economia , Índice de Gravidade de Doença , Distribuição por Sexo , Campos Visuais
5.
Invest Ophthalmol Vis Sci ; 35(2): 696-705, 1994 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-8113020

RESUMO

PURPOSE: To examine the retinotoxic effect of naphthalene, a powerful oxidative agent and a well-known cataractogenic agent. METHODS: A 10% solution of naphthalene dissolved in paraffin oil was given every other day by gavage to 31 pigmented rabbits for 5 weeks, at a dose of 1 g/kg body weight. Four rabbits who received only paraffin oil served as controls. The eyes were clinically followed up by means of ophthalmoscopy and retinal fluorangiography. At selected intervals, the eyes were examined with light microscopy and transmission electron microscopy. RESULTS: The first lesions were focal and appeared in the periphery of the fundus about 3 weeks after the beginning of treatment and tended to spread over the entire retina. Histologically, there was a degeneration of photoreceptors, accompanied by a reaction and proliferation of retinal pigment epithelium (RPE) that phagocytized the damaged visual cells. After about 3 months, the proliferation of RPE was followed by subretinal neovascularization (SRN). Both mature fenestrated and thick-walled non-fenestrated capillaries penetrated Bruch's membrane, enveloped by abundant fibrous extracellular matrix and accompanied by pericytes. As a consequence of this process, the retina was focally transformed into a "neovascular complex" in which a vascular plexus was intermingled with pseudo-acinar cavities lined by RPE. There were no signs of SRN at retinal fluorangiography, possibly because of the dense microenvironment of extracellular matrix and RPE cells of the neovascular complexes. CONCLUSIONS: Naphthalene degeneration of the rabbit retina appears to be a simple model of photoreceptor vulnerability in the first stages of SRN thereafter. The close chronologic and topographic relationship between the appearance of the anomalous vessels and RPE alteration and the close resemblance with previous models of experimental SRN may support the hypothesis of an experimental model of SRN triggered by the RPE.


Assuntos
Naftalenos/toxicidade , Retina/efeitos dos fármacos , Neovascularização Retiniana/induzido quimicamente , Animais , Catarata/induzido quimicamente , Divisão Celular , Modelos Animais de Doenças , Angiofluoresceinografia , Fundo de Olho , Lavagem Gástrica , Cristalino/efeitos dos fármacos , Masculino , Células Fotorreceptoras/efeitos dos fármacos , Células Fotorreceptoras/ultraestrutura , Epitélio Pigmentado Ocular/efeitos dos fármacos , Epitélio Pigmentado Ocular/ultraestrutura , Coelhos , Retina/ultraestrutura , Degeneração Retiniana/induzido quimicamente , Degeneração Retiniana/patologia , Neovascularização Retiniana/patologia
6.
Invest Ophthalmol Vis Sci ; 41(9): 2566-73, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10937568

RESUMO

PURPOSE: To compare the around-the-clock intraocular pressure (IOP) reduction induced by timolol 0.5%, latanoprost 0.005%, and dorzolamide in patients with primary open-angle glaucoma (POAG) or ocular hypertension (OHT). METHODS: In this crossover trial, 20 patients with POAG (n = 10) or OHT (n = 10) were treated with timolol, latanoprost, and dorzolamide for 1 month. The treatment sequence was randomized. All patients underwent measurements for four 24-hour tonometric curves: at baseline and after each 1-month period of treatment. The patients were admitted to the hospital, and IOP was measured by two well-trained evaluators masked to treatment assignment. Measurements were taken at 3, 6, and 9 AM and noon and at 3, 6, and 9 PM and midnight by handheld electronic tonometer (TonoPen XL; Bio-Rad, Glendale, CA) with the patient supine and sitting, and a Goldmann applanation tonometer (Haag-Streit, Bern, Switzerland) with the patient sitting at the slit lamp. Systemic blood pressure was recorded at the same times. The between-group differences were tested for significance by means of parametric analysis of variance. The circadian IOP curve of a small group of untreated healthy young subjects was also recorded using the same procedures. To compare the circadian IOP rhythms in the POAG-OHT and control groups, the acrophases for each subject were calculated. RESULTS: When Goldmann sitting values were considered, all the drugs significantly reduced IOP in comparison with baseline at all times, except for timolol at 3 AM. Latanoprost was more effective in lowering IOP than timolol at 3, 6, and 9 AM (P = 0.03), noon (P = 0.01), 9 PM, and midnight (P = 0.05) and was more effective than dorzolamide at 9 AM, noon (P = 0.03), and 3 and 6 PM (P = 0.04). Timolol was more effective than dorzolamide at 3 PM (P = 0.05), whereas dorzolamide performed better than timolol at midnight and 3 AM (P = 0.05). An ancillary finding of this study was that in the group of healthy subjects, the pattern of IOP curve was different that in patients with eye disease. CONCLUSIONS: Latanoprost seemed to lead to a fairly uniform circadian reduction in IOP, whereas timolol seemed to be less effective during the nighttime hours. Dorzolamide was less effective than latanoprost but led to a significant reduction in nocturnal IOP. The reason for the difference in the pattern of the IOP curve of healthy subjects is currently unknown and deserves further investigation.


Assuntos
Anti-Hipertensivos/uso terapêutico , Ritmo Circadiano/efeitos dos fármacos , Glaucoma de Ângulo Aberto/tratamento farmacológico , Pressão Intraocular/efeitos dos fármacos , Prostaglandinas F Sintéticas/uso terapêutico , Sulfonamidas/uso terapêutico , Tiofenos/uso terapêutico , Timolol/uso terapêutico , Idoso , Anti-Hipertensivos/administração & dosagem , Estudos Cross-Over , Feminino , Humanos , Latanoprosta , Masculino , Hipertensão Ocular/tratamento farmacológico , Soluções Oftálmicas/administração & dosagem , Soluções Oftálmicas/uso terapêutico , Prostaglandinas F Sintéticas/administração & dosagem , Sulfonamidas/administração & dosagem , Tiofenos/administração & dosagem , Timolol/administração & dosagem , Tonometria Ocular
7.
Invest Ophthalmol Vis Sci ; 23(6): 689-96, 1982 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-7141813

RESUMO

Coated pits (CPs) and coated vesicles (CVs) were investigated in the retinal pigment epithelium (RPE) of man and rabbit. In both species CPs and CVs show the typical coat of bristles radiating from their convex surface. CPs originate only from invaginations of the basal and apical cell membrane. The bipolar distribution of CPs is reflected in the distribution of CVs, which are most concentrated near the basal and apical cell boundaries. Neither fusion of CVs with the cytoplasmic organelles nor the presence of receptosomes could be demonstrated. The distribution patterns of CPs, CVs, Golgi apparatus, and mitochondria are very similar in RPE of man and rabbit. Moreover, as compared with other ocular tissues. CVs found in RPE differ both in size and distribution from those found in the pigment epithelium of the pars plana ciliaris and in trabecular endothelial cells. This peculiarity might indicate that receptor-mediated endocytosis via CVs plays a role in the transport across RPE of substances that are specific to this epithelium. Some analogies between the specificity of size and distribution of CVs in RPE and the process of internalization and transport of retinal are suggested.


Assuntos
Epitélio Pigmentado Ocular/ultraestrutura , Animais , Membrana Celular/ultraestrutura , Grânulos Citoplasmáticos/ultraestrutura , Endocitose , Complexo de Golgi/ultraestrutura , Humanos , Lactente , Mitocôndrias/ultraestrutura , Coelhos
8.
Arch Ophthalmol ; 99(1): 69-70, 1981 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-7458742

RESUMO

Glucose-6-phosphate dehydrogenase (G6PD) deficiency in RBCs was found significantly more frequently in 210 male cataractous patients than in 672 control subjects of Sardinian origin. The frequency of the deficiency was increasingly higher in presenile cataracts. In the G6PD-deficient group, the incidence of cortical and total cataracts was also increased. It is suggested that decrease of the G6PD activity in the lens, which accompanies its deficiency in the erythrocyte, might play a role in the cataracto-genesis of these patients. Moreover, G6PD deficiency should be added to other conditions, such as the galactosemic states and riboflavin deficiency, where cataracts represent a sensitive indicator of metabolic abnormalities of the RBC.


Assuntos
Catarata/enzimologia , Glucosefosfato Desidrogenase/metabolismo , Adulto , Fatores Etários , Idoso , Catarata/etiologia , Catarata/genética , Feminino , Deficiência de Glucosefosfato Desidrogenase/epidemiologia , Deficiência de Glucosefosfato Desidrogenase/genética , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Cromossomo X
9.
Arch Ophthalmol ; 111(1): 96-103, 1993 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-8424732

RESUMO

A systematic quantitative and qualitative overview of published randomized clinical trials was undertaken to assess the yield of medical treatment on the outcome of patients with primary open angle glaucoma. Reports of 102 randomized clinical trials were published between 1975 and 1991, totalling about 5000 patients. Only 16% (16/102) of the trials were, however, properly designed (ie, comparing an active treatment with a placebo-treated or untreated control group) to answer the question of whether any medical treatment can effectively cure patients with primary open angle glaucoma. Pooled analysis showed a moderate yet statistically significant reduction in mean intraocular pressure (-4.9 mm Hg; 95% confidence interval [CI], -7.3 to -2.5 mm Hg); however, data on long-term visual field changes were available in only three randomized clinical trials, and their statistical combination failed to show a significant protective effect of active treatment (odds ratio, 0.75; 95% CI, 0.42 to 1.35). All of the remaining 86 randomized clinical trials looked at the effectiveness of one drug vs another in lowering intraocular pressure and were thus of no use in the overview. Practicing ophthalmologists should be aware that the effectiveness of pressure-lowering agents in the treatment of primary open angle glaucoma is still to be determined and that the vast majority of published trials are not appropriate to guide clinical practice. It is urgent to plan trials with end-point and follow-up duration that is fully relevant for the health of patients.


Assuntos
Protocolos Clínicos/normas , Glaucoma de Ângulo Aberto/tratamento farmacológico , Guias de Prática Clínica como Assunto , Ensaios Clínicos Controlados Aleatórios como Assunto , Humanos , Pressão Intraocular , Placebos , Projetos de Pesquisa , Resultado do Tratamento , Campos Visuais
10.
Arch Ophthalmol ; 118(5): 674-9, 2000 May.
Artigo em Inglês | MEDLINE | ID: mdl-10815160

RESUMO

BACKGROUND: Juvenile open-angle glaucoma has been found to be associated with molecular defects in the myocilin (MYOC) gene. Most of the defects are missense mutations located in the third exon. The Gln368stop mutation has recently been found in several cases of late-onset primary open-angle glaucoma (POAG). OBJECTIVE: To study the effect of glaucoma risk in a relatively homogeneous genetic population. METHODS: A clinical study was performed in all living members of a 5-generation family. DNA analysis was performed for studying association with genetic markers and identifying the mutation. RESULTS: We identified the Gln368stop molecular defect in 19 patients with POAG, 5 patients with ocular hypertension, and 22 healthy carriers. We compared affected and unaffected carriers based on age at onset and last examination, respectively. Besides the presence of 3 young patients with POAG (<40 years old), the number of glaucomatous patients in the advanced age group increased. CONCLUSIONS: The penetrance of glaucoma increases with age in Gln368stop carriers, but some remain unaffected at advanced age and others are affected at an early age. This suggests that additional risk factors are operating within this family, which may be identified by a genome-wide linkage search in this large pedigree. CLINICAL RELEVANCE: The myocilin Gln368stop mutation shows a good genotype-phenotype correlation and should be investigated in all familiar cases of chronic POAG. This may be important for early diagnosis and periodical checkups of presymptomatic individuals belonging to these families.


Assuntos
Códon de Terminação/genética , Proteínas do Olho/genética , Glaucoma de Ângulo Aberto/genética , Glicoproteínas/genética , Mutação , Fatores Etários , Idade de Início , Idoso , Idoso de 80 Anos ou mais , Proteínas do Citoesqueleto , DNA/análise , Análise Mutacional de DNA , Sondas de DNA/química , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Hipertensão Ocular/genética , Linhagem , Fatores de Risco
11.
Arch Ophthalmol ; 116(6): 793-7, 1998 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-9639450

RESUMO

BACKGROUND: Primary open-angle glaucoma encompasses a complex of potentially blinding ocular diseases characterized by a normal-appearing angle of the anterior chamber, a characteristic degeneration of the optic nerve with resultant typical visual field defects, and usually, an elevated intraocular pressure. It can be subdivided into 2 groups according to the age at onset: the more prevalent chronic open-angle glaucoma diagnosed after 40 years of age, and the less common juvenile form, which occurs between 3 years of age and early adulthood. A locus for primary open-angle glaucoma (GLC1A) has been mapped to a 3-centimorgan region of the long arm of chromosome 1 (1q23-25). Recently, the myocilin (MYOC) gene, located in this chromosomal interval, has been found mutated in several patients affected by primary open-angle glaucoma. OBJECTIVE: To describe the clinical and molecular genetic features of 4 pedigrees affected by autosomal dominant juvenile open-angle glaucoma, all from the Italian region of Puglia. METHODS: Clinical study, gonioscopy, automated perimetry, and DNA analysis were performed on several members of the 4 families. RESULTS: We identified a new molecular defect (1177GACA-->T) in the third exon of the GLC1A gene. This mutation is present in all affected persons and in 2 still phenotypically normal persons. CONCLUSION: Our results are important for diagnostic purposes because it is now possible to identify asymptomatic carriers, for whom clinical surveillance for the early detection and treatment of glaucoma may be suggested.


Assuntos
Proteínas do Olho/genética , Glaucoma de Ângulo Aberto/genética , Glicoproteínas/genética , Mutação , Adolescente , Adulto , Criança , Proteínas do Citoesqueleto , Análise Mutacional de DNA , Primers do DNA , Éxons , Feminino , Ligação Genética , Glaucoma de Ângulo Aberto/patologia , Humanos , Itália , Masculino , Pessoa de Meia-Idade , Linhagem , Análise de Sequência de DNA , Testes de Campo Visual
12.
Am J Ophthalmol ; 113(2): 161-4, 1992 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-1550183

RESUMO

In two patients, we studied retinitis pigmentosa with preservation of the retinal pigment epithelium adjacent to and under the retinal arterioles (despite panretinal degeneration). Both patients with preserved para-arteriolar retinal pigment epithelium also exhibited a peculiarly strong hyperopia. In addition to previously reported features, these patients also had sheathing of the major vascular arcades, which suggested a vascular involvement in this uncommon form of retinitis pigmentosa.


Assuntos
Epitélio Pigmentado Ocular/patologia , Vasos Retinianos/patologia , Retinose Pigmentar/patologia , Adulto , Arteríolas/patologia , Criança , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Hiperopia/patologia , Acuidade Visual
13.
Am J Ophthalmol ; 117(2): 211-3, 1994 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-8116749

RESUMO

To evaluate the importance of the position of the artery anterior to the vein in the arteriovenous crossing to the pathogenesis of first- and second-order branch retinal vein occlusion, we studied the fluorescein angiograms of 65 patients with branch retinal vein occlusion (65 eyes). The corresponding crossing in the opposite arcade (superior or inferior) served as the control. In a statistically significant percentage of crossings, the arteries were anterior to the veins in second-order branches (odds ratio, 6.66; 95% confidence interval, 1.98 to 32.33; chi 2, 12.56; P = .000394). However, their position was not found to be important in the pathogenesis of first-order occlusions (odds ratio, 1.3; 95% confidence interval, 0.23 to 9.01; chi 2, 0.14; P = .708281). These results suggest that some differences may exist in the risk factors for branch retinal vein occlusion depending on the site of the occlusion.


Assuntos
Artéria Retiniana/patologia , Oclusão da Veia Retiniana/patologia , Veia Retiniana/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Angiofluoresceinografia , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco
14.
Am J Ophthalmol ; 118(1): 16-23, 1994 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-8023871

RESUMO

Scanning laser ophthalmoscopy is a laser-based image acquisition technique, which greatly improves the quality of the examination of the fundus and the retinal nerve fiber layer. To assess retinal nerve fiber layer imaging by scanning laser ophthalmoscopy and evaluate intra- and interobserver reproducibility in the classification of retinal nerve fiber layer defects, three independent observers evaluated on two separate occasions the videotaped images of 150 eyes of 80 consecutive patients with ocular hypertension or glaucoma. Ophthalmoscopy was performed using argon blue light (488 nm), confocal apertures of 3 to 1 mm, and 40-degree and 20-degree field angles. Of 150 eyes, 20 (13.3%) were excluded from the study because of the poor quality of the images (clinically significant cataract or myopic peripapillary atrophy). The retinal nerve fiber layer was evaluated qualitatively according to a standard classification: normal pattern, slit, wedge, and diffuse defects. Intraobserver reproducibility, evaluated by kappa statistic, was excellent (> or = 0.75): observer A = 0.78 (95% confidence limits, 0.67-0.88); observer B = 0.84 (95% confidence limits, 0.72-0.96); and observer C = 0.79 (95% confidence limits, 0.67-0.91). Interobserver reproducibility was also excellent in all cases: observers A-B = 0.84 (95% confidence limits, 0.71-0.98); observers A-C = 0.76 (95% confidence limits, 0.65-0.87); and observers B-C = 0.80 (95% confidence limits, 0.69-0.92). Kappa values ranged between 0.59 and 0.69 for intraobserver reproducibility and between 0.55 and 0.69 for interobserver reproducibility when using only those eyes in which abnormalities were noted by at least one observer.(ABSTRACT TRUNCATED AT 250 WORDS)


Assuntos
Fibras Nervosas/patologia , Oftalmoscópios , Retina/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos de Avaliação como Assunto , Fundo de Olho , Glaucoma de Ângulo Aberto/patologia , Humanos , Pressão Intraocular , Lasers , Pessoa de Meia-Idade , Variações Dependentes do Observador , Hipertensão Ocular/patologia , Nervo Óptico/patologia , Reprodutibilidade dos Testes
15.
Am J Ophthalmol ; 109(3): 285-9, 1990 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-2309859

RESUMO

We investigated the presence of twin vessels in two patients and in four of their relatives at risk from one family with autosomal-dominant hereditary cavernous hemangioma of the retina associated with central nervous system involvement. Twin vessels were detected in four of the six patients examined. The proband had bilateral retinal vascular hamartomas with central nervous system involvement but no twin vessels. The proband's mother had vascular hamartomas of the retina and brain with twin vessels. In the other three family members, twin vessels were associated either with retinal cavernous hemangiomas (one patient) or with normal fundi (two patients). Because twin vessels may be an ocular manifestation of von Hippel-Lindau disease, their presence in one of our two patients and in the otherwise healthy three family members suggests that twin vessels may be associated with different retinal vascular hamartomas, including capillary and cavernous hemangiomas.


Assuntos
Hemangioma Cavernoso/genética , Doenças Retinianas/genética , Vasos Retinianos/anormalidades , Adulto , Arteríolas/anormalidades , Criança , Feminino , Angiofluoresceinografia , Hamartoma/complicações , Hamartoma/genética , Hemangioma Cavernoso/complicações , Humanos , Masculino , Linhagem , Doenças Retinianas/complicações , Vênulas/anormalidades , Doença de von Hippel-Lindau/diagnóstico
16.
Am J Ophthalmol ; 129(2): 260-2, 2000 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-10682987

RESUMO

PURPOSE: To report the molecular characterization of a novel VMD2 mutation causing a Best macular dystrophy sporadic case. METHODS: All family members underwent ophthalmologic examination and genetic testing by single strand conformation polymorphism analysis and direct sequencing of the VMD2 gene. RESULTS: A single T to G transition at nucleotide 663 was identified in one of the VMD2 gene copies of the patient, which results in a Cys to Trp substitution at position 221 in the corresponding protein (C221W). Sequence analysis of the VMD2 exon 6 of both parents of the patient did not reveal any mutation. CONCLUSION: These data confirm the involvement of the VMD2 gene in Best macular dystrophy onset, even in sporadic cases of the disease, pointing out the relevance of molecular analysis in the diagnosis of this degenerative retinal disease.


Assuntos
Proteínas do Olho/genética , Degeneração Macular/genética , Mutação de Sentido Incorreto , Mutação Puntual , Substituição de Aminoácidos , Bestrofinas , Pré-Escolar , Canais de Cloreto , Feminino , Humanos , Degeneração Macular/patologia , Reação em Cadeia da Polimerase , Polimorfismo Conformacional de Fita Simples , Análise de Sequência de DNA , Acuidade Visual
17.
Vision Res ; 38(5): 763-71, 1998 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-9604104

RESUMO

The aim of this study was to determine the sensitivity of retinal areas involved in a localized retinal nerve fiber layer (RNFL) defect and to assess correlations between microperimetry and the standard full threshold central 30 deg visual field test. Twenty-five patients with focal RNFL defects, evaluated by means of Argon-blue scanning laser ophthalmoscopy (SLO), underwent an automated 30 deg central visual field examination and a microperimetry with SLO. Microperimetry was performed according to standard procedures (infrared laser for fundus imaging; HeNe laser for 10 candles/m2 background illumination, fixation aid and generation of stimuli; manual fundus tracking). The size of stimuli was Goldmann III with 0.1 sec duration. In eyes with focal RNFL defects a deep microperimetric scotoma of at least 5 dB was found in 12 cases and a mild scotoma (1-4 dB) in 13 cases. These scotomas were mainly located throughout the whole defect or grouped in the temporal or nasal sides of the defect and were characterized by sharp and well-defined borders. With automated perimetry, a scotoma, defined by a single point depression of at least 10 dB or a depression of at least 5 dB in two or more contiguous points corresponding to the RNFL, defect, was found in only 14 out of 25 eyes with microperimetric defect. Focal RNFL defects correspond to localized areas of depressed retinal sensitivity as evaluated by microperimetry. The close correspondence between structural and microperimetric findings suggests that, in hypertensive eyes also, localized RNFL defects correspond to visual dysfunction possibly associated with substantial atrophy of ganglion cells.


Assuntos
Células Ganglionares da Retina/fisiologia , Testes de Campo Visual/métodos , Campos Visuais , Adulto , Idoso , Glaucoma de Ângulo Aberto/fisiopatologia , Humanos , Pessoa de Meia-Idade , Hipertensão Ocular/fisiopatologia , Oftalmoscopia , Escotoma/fisiopatologia , Limiar Sensorial/fisiologia
18.
Br J Ophthalmol ; 88(2): 174-7, 2004 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-14736765

RESUMO

PURPOSE: To assess reproducibility of central corneal thickness (CCT) measurement by means of ultrasonic pachymetry. METHODS: Fifty one volunteers underwent three sessions of CCT measurements, each consisting of three CCT measurements, performed by each of three different observers. Intra- and interobserver reproducibility was calculated by means of intraclass correlation coefficient (ICC). The expected range of variability between two independent evaluations was calculated using scatter plots of each test-retest difference against their mean. The standard deviation of the mean differences in the test-retest scores was used to describe the differences in the score spread. RESULTS: The ICC ranges of the intra- and interobserver evaluations were 0.95-0.97 and 0.89-0.95 respectively; the expected variability was < or = +/-1% and < or = +/- 2% respectively (95% confidence interval). CONCLUSIONS: The measurement of CCT by means of ultrasonic pachymetry is highly reproducible.


Assuntos
Córnea/anatomia & histologia , Córnea/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Córnea/patologia , Técnicas de Diagnóstico Oftalmológico , Glaucoma de Ângulo Aberto/diagnóstico por imagem , Glaucoma de Ângulo Aberto/patologia , Humanos , Modelos Lineares , Pessoa de Meia-Idade , Variações Dependentes do Observador , Hipertensão Ocular/diagnóstico por imagem , Hipertensão Ocular/patologia , Valores de Referência , Reprodutibilidade dos Testes , Ultrassonografia
19.
J Cataract Refract Surg ; 20(2): 124-8, 1994 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-8201559

RESUMO

In a prospective, randomized clinical trial, 42 patients received a monofocal intraocular lens and 38 a multifocal lens after extracapsular cataract extraction. Patients were examined three, six, and 12 months after surgery. Uncorrected visual acuity was 20/40 or better in 57% of monofocal and 58% of multifocal patients; 12% and 52% had near uncorrected visual acuity of J1 to J2, respectively. Best corrected visual acuities were not significantly different. Forty-eight percent of the multifocal and 8% of the monofocal group did not require spectacle correction. On a patient satisfaction questionnaire, 60% of all patients reported discomfort when using spectacles for near vision. Patients in the multifocal group were more satisfied with their near vision than those in the monofocal group. The difference in satisfaction was not significantly different although more multifocal patients reported visual phenomena (e.g., glare, halos). Mean contrast sensitivity for the monofocal group and the multifocal group was 1.73 and 1.70, respectively. At low contrast sensitivities, the difference was not significant although the monofocal patients scored better.


Assuntos
Extração de Catarata/métodos , Cápsula do Cristalino/cirurgia , Lentes Intraoculares , Óptica e Fotônica , Satisfação do Paciente , Acuidade Visual , Idoso , Idoso de 80 Anos ou mais , Sensibilidades de Contraste , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos
20.
J Cataract Refract Surg ; 22 Suppl 1: 794-9, 1996.
Artigo em Inglês | MEDLINE | ID: mdl-9279674

RESUMO

PURPOSE: To evaluate the effectiveness of diclofenac eyedrops in reducing inflammation and the incidence of angiographic cystoid macular edema (CME) after cataract surgery and intraocular lens (IOL) implantation. SETTING: Eye Clinic, Institute of Biomedical Sciences, San Paolo Hospital, Milan, Italy. METHODS: Eighty-eight patients having cataract extraction were enrolled in a randomized clinical trial: 42 were given diclofenac eyedrops and 46, placebo. Postoperative inflammation in both groups was graded for 6 months using a dedicated system. RESULTS: Eight patients (9%) had evidence of angiographic CME approximately 1 month after surgery: seven of these were in the placebo group (P = .039). This difference was not significant 3 and 6 months postoperatively. The signs of ocular inflammation were greater in the eyes receiving placebo; the difference was particularly evident up to 1 week after surgery. There was no significant difference in visual acuity between the two groups at any follow-up point, but the contrast sensitivity of the eyes that received diclofenac improved significantly at 10.5 cycles per degree 1 month postoperatively. CONCLUSION: Diclofenac eyedrops effectively reduced ocular inflammation and the occurrence of angiographic CME after cataract surgery.


Assuntos
Anti-Inflamatórios não Esteroides/uso terapêutico , Extração de Catarata/efeitos adversos , Diclofenaco/uso terapêutico , Endoftalmite/tratamento farmacológico , Edema Macular/tratamento farmacológico , Administração Tópica , Idoso , Câmara Anterior/patologia , Anti-Inflamatórios não Esteroides/administração & dosagem , Diclofenaco/administração & dosagem , Método Duplo-Cego , Endoftalmite/etiologia , Endoftalmite/patologia , Feminino , Seguimentos , Humanos , Incidência , Edema Macular/epidemiologia , Edema Macular/etiologia , Masculino , Soluções Oftálmicas , Complicações Pós-Operatórias , Resultado do Tratamento
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