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1.
Nat Genet ; 22(2): 199-202, 1999 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10369267

RESUMO

Malattia Leventinese (ML) and Doyne honeycomb retinal dystrophy (DHRD) refer to two autosomal dominant diseases characterized by yellow-white deposits known as drusen that accumulate beneath the retinal pigment epithelium (RPE). Both loci were mapped to chromosome 2p16-21 (refs 5,6) and this genetic interval has been subsequently narrowed. The importance of these diseases is due in large part to their close phenotypic similarity to age-related macular degeneration (AMD), a disorder with a strong genetic component that accounts for approximately 50% of registered blindness in the Western world. Just as in ML and DHRD, the early hallmark of AMD is the presence of drusen. Here we use a combination of positional and candidate gene methods to identify a single non-conservative mutation (Arg345Trp) in the gene EFEMP1 (for EGF-containing fibrillin-like extracellular matrix protein 1) in all families studied. This change was not present in 477 control individuals or in 494 patients with age-related macular degeneration. Identification of this mutation may aid in the development of an animal model for drusen, as well as in the identification of other genes involved in human macular degeneration.


Assuntos
Cromossomos Humanos Par 2 , Distrofias Hereditárias da Córnea/genética , Proteínas da Matriz Extracelular/genética , Mutação Puntual , Drusas Retinianas/genética , Envelhecimento , Substituição de Aminoácidos , Animais , Mapeamento Cromossômico , Cromossomos Artificiais de Levedura , Distrofias Hereditárias da Córnea/fisiopatologia , Feminino , Angiofluoresceinografia , Regulação da Expressão Gênica , Humanos , Masculino , Camundongos , Epitélio Pigmentado Ocular/patologia , Drusas Retinianas/fisiopatologia , Transcrição Gênica
2.
Arch Ophthalmol ; 116(10): 1333-6, 1998 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9790632

RESUMO

OBJECTIVE: To analyze the retinal and choroidal vascular abnormalities in eyes with angioid streaks (AS) associated with pseudoxanthoma elasticum (PXE). METHODS: Color photographs and fluorescein angiograms of 54 eyes of 27 consecutive patients with AS and PXE were examined retrospectively. RESULTS: Four (7%) of the 54 eyes had a major vascular abnormality at the level of the disc; this took the form of a large vascular loop corresponding to an arteriovenous communication between retina and choroid in 3 eyes (6%) and an anastomosis between 2 retinal arteries in 1 eye (2%). CONCLUSION: Analysis of the vascular network in these eyes showed several vascular abnormalities, among which chorioretinal arteriovenous communications appear to be the most dramatic.


Assuntos
Estrias Angioides/complicações , Fístula Artério-Arterial/etiologia , Fístula Arteriovenosa/etiologia , Corioide/irrigação sanguínea , Pseudoxantoma Elástico/complicações , Vasos Retinianos/anormalidades , Adulto , Idoso , Estrias Angioides/patologia , Fístula Artério-Arterial/patologia , Fístula Arteriovenosa/patologia , Feminino , Angiofluoresceinografia , Humanos , Verde de Indocianina , Masculino , Pessoa de Meia-Idade , Disco Óptico/irrigação sanguínea , Fotografação , Pseudoxantoma Elástico/patologia , Vasos Retinianos/patologia , Estudos Retrospectivos
3.
Arch Ophthalmol ; 115(5): 616-22, 1997 May.
Artigo em Inglês | MEDLINE | ID: mdl-9152129

RESUMO

OBJECTIVE: To report the prevalence of age-related maculopathy (ARM) in Salandra, a small, isolated southern Italian community, to test the hypothesis that an environmental factor, scarce in such a remote community but ubiquitous in modern industrial societies, might modify the risk of developing ARM. DESIGN: Population-based cross-sectional survey. MAIN OUTCOME MEASURES: Prevalence of advanced age-related macular degeneration (ARMD) (geographic atrophy or exudative maculopathy) and ARM (large, soft drusen or retinal pigment epithelium changes, or both) defined by fundus biomicroscopy and 30 degrees stereoscopic, macular photography. Self-sustenance was assessed by interview of participants and local shop retailers. The degree of genetic isolation was computed using a model that fits the genetic population structure with the frequency distribution of surnames in the community. RESULTS: A full ophthalmic examination was undertaken in 366 (63.5%) of 576 eligible participants, 354 (96.7%) of whom had clinical or photographic assessment for the presence of ARMD and 310 (84.6%) of whom had drusen characteristics graded on color transparencies for ARM. The overall prevalence of ARMD was 1.1%. Drusen larger than 50 microns and more numerous than 10 were found in 4.5% of subjects. Salandra was the birthplace of 87.2% of participants and for 77.3% of both parents of each subject. People in the community tended to consume homegrown products. CONCLUSION: The prevalence of ARM may be lower in this self-sustained farming community than elsewhere in the industrialized world.


Assuntos
Degeneração Macular/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Dieta , Feminino , Fundo de Olho , Humanos , Itália/epidemiologia , Degeneração Macular/genética , Degeneração Macular/patologia , Masculino , Pessoa de Meia-Idade , Fotografação , Projetos Piloto , Prevalência , Drusas Retinianas/patologia , População Rural
4.
Arch Ophthalmol ; 118(3): 327-36, 2000 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10721954

RESUMO

OBJECTIVE: To evaluate short-term safety and the effects on visual acuity and fluorescein angiography of single or multiple sessions of photodynamic therapy with verteporfin for choroidal neovascularization (CNV) not related to age-related macular degeneration (AMD), including pathologic myopia, the ocular histoplasmosis syndrome, angioid streaks, and idiopathic causes. DESIGN: A nonrandomized, multicenter, open-label, dose-escalation phase 1 and 2 clinical trial. SETTING: Four ophthalmic centers in Europe and North America providing retinal care. PARTICIPANTS: Thirteen patients with subfoveal CNV due to pathologic myopia, the ocular histoplasmosis syndrome, angioid streaks, or idiopathic causes. METHODS: Standardized protocol refraction, visual acuity testing, ophthalmic examinations, color photographs, and fluorescein angiograms were used to evaluate the results of photodynamic therapy treatments with verteporfin. Follow-up ranged from 12 weeks for patients who were treated once to 43 weeks for patients who were treated up to 4 times. RESULTS: Verteporfin therapy was well tolerated in patients with CNV not related to AMD. No deterioration in visual acuity was observed; most patients gained at least 1 line of vision. Reduction in the size of leakage area from classic CNV was noted in all patients as early as 1 week after verteporfin therapy, with complete absence of leakage from classic CNV in almost half of the patients. Improvement in visual acuity after verteporfin therapy was greatest (+6, +8, and +9 lines) in 3 patients with relatively poor initial visual acuity (between 20/200 and 20/800). Up to 4 treatments were found to have short-term safety even with retreatment intervals as short as 4 weeks. CONCLUSIONS: Treatment of CNV not related to AMD with verteporfin therapy achieves short-term cessation of fluorescein leakage from CNV in a small number of patients without loss of vision. Further randomized clinical trials including a larger number of patients are under way to confirm whether verteporfin therapy is beneficial for subfoveal CNV not related to AMD.


Assuntos
Estrias Angioides/complicações , Neovascularização de Coroide/tratamento farmacológico , Infecções Oculares Fúngicas/complicações , Histoplasmose/complicações , Miopia/complicações , Fotoquimioterapia , Fármacos Fotossensibilizantes/uso terapêutico , Porfirinas/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Permeabilidade Capilar , Neovascularização de Coroide/etiologia , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Segurança , Verteporfina , Acuidade Visual
5.
Arch Ophthalmol ; 114(2): 193-8, 1996 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-8573024

RESUMO

OBJECTIVE: To identify the chromosomal location of the gene involved in the pathogenesis of autosomal dominant radial drusen (malattia leventinese). PATIENTS: Eighty-six members of four families affected with radial drusen; one family of American origin and three families of Swiss origin. METHODS: Family members were clinically examined for the presence of radial drusen. Affected patients and potentially informative spouses were genotyped with short tandem repeat polymorphisms distributed across the autosomal genome. The clinical and genotypic data were subjected to linkage analysis. RESULTS: Fifty-six patients were found to be clinically affected. Significant linkage was observed between the disease phenotype and markers known to lie on the short arm of chromosome 2. The maximum two-point lod score (Zmax) observed for all four families combined was 10.5 and was obtained with marker D2S378. Multipoint analysis yielded a Zmax of 12, centered on marker D2S378. The lod-1 confidence interval was 8 cM, while the disease interval defined by observed recombinants was 14 cM. CONCLUSIONS: The gene responsible for autosomal dominant radial drusen has been mapped to the short arm of chromosome 2. This is an important step toward actually isolating the disease-causing gene. In addition, this information can be used to evaluate other familial drusen phenotypes such as Doyne's macular dystrophy for a possible allelic relationship.


Assuntos
Aberrações Cromossômicas/genética , Cromossomos Humanos Par 2 , Ligação Genética/genética , Drusas Retinianas/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Transtornos Cromossômicos , Mapeamento Cromossômico , DNA/análise , Feminino , Fundo de Olho , Genótipo , Humanos , Escore Lod , Degeneração Macular/genética , Masculino , Pessoa de Meia-Idade , Linhagem
6.
Arch Ophthalmol ; 117(9): 1161-73, 1999 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10496388

RESUMO

OBJECTIVE: To evaluate the safety and short-term visual and fluorescein angiographic effects of a single photodynamic therapy treatment with verteporfin with the use of different dosage regimens in patients with choroidal neovascularization (CNV) from age-related macular degeneration. DESIGN: Nonrandomized, multicenter, open-label, clinical trial using 5 dosage regimens. SETTING: Four ophthalmic centers in North America and Europe providing retinal care. PARTICIPANTS: Patients with subfoveal CNV caused by age-related macular degeneration. METHODS: Standardized protocol refraction, visual acuity testing, ophthalmic examination, color photographs, and fluorescein angiograms were used to evaluate the effects of a single treatment of photodynamic therapy with verteporfin. Follow-up was planned through 3 months in 97 patients and for less than 3 months in 31 other patients. RESULTS: The mean visual acuity change (and range of change) from baseline at the follow-up examination at week 12 after a single treatment with regimens 1 through 5 was -0.2 (-3 to +2), -0.9 (-9 to +5), -1.6 (-9 to +2), +0.4 (-8 to +7), and +0.1 (-8 to +9) lines, respectively. Only the highest light dose (150 J/cm2) in regimens 2 and 3, which produced angiographic nonperfusion of neurosensory retinal vessels, caused marked vision loss. Some cessation of fluorescein leakage from CNV was achieved without loss of vision when the light dose used was less than 150 J/cm2. Systemic adverse events were rare. Cessation of fluorescein leakage from CNV was noted in all regimens by 1 week after photodynamic therapy. Fluorescein leakage from at least a portion of the CNV reappeared by 4 to 12 weeks after treatment in almost all cases. Progression of classic CNV beyond the area of CNV identified before treatment was noted in 42 (51%) of the 83 eyes with classic CNV followed up for 3 months after a single treatment. Eyes in which the area of any CNV leakage at 12 weeks was less than at baseline had a significantly better visual acuity outcome (+0.8 line) than eyes in which CNV leakage progressed (-0.8 line). CONCLUSIONS: Photodynamic therapy with verteporfin achieved short-term cessation of fluorescein leakage from CNV without loss of vision or growth of classic CNV in some patients with age-related macular degeneration. Except for nonperfusion of neurosensory retinal vessels at a light dose of 150 J/cm2, no other adverse events were of concern. Randomized clinical trials to investigate whether this new modality can preserve vision in patients with CNV secondary to age-related macular degeneration are justified.


Assuntos
Neovascularização de Coroide/tratamento farmacológico , Degeneração Macular/complicações , Fotoquimioterapia , Fármacos Fotossensibilizantes/uso terapêutico , Porfirinas/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Permeabilidade Capilar/efeitos dos fármacos , Corioide/irrigação sanguínea , Neovascularização de Coroide/etiologia , Neovascularização de Coroide/metabolismo , Neovascularização de Coroide/patologia , Feminino , Fluoresceína/metabolismo , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Refração Ocular , Segurança , Resultado do Tratamento , Verteporfina , Acuidade Visual
7.
Arch Ophthalmol ; 117(9): 1177-87, 1999 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10496389

RESUMO

OBJECTIVES: To evaluate safety and short-term visual acuity and fluorescein angiographic effects of photodynamic therapy (PDT) after retreatments with verteporfin for choroidal neovascularization (CNV) in age-related macular degeneration (AMD) that demonstrated fluorescein leakage after at least 1 course of PDT. DESIGN: Nonrandomized, multicenter, open-label phase 1 and 2 clinical trial using 2 different retreatment dosage regimens. SETTING: Four ophthalmic centers in Europe and North America providing retinal care. METHODS: Standardized protocol refraction, visual acuity testing, ophthalmic examinations, color photographs, and fluorescein angiograms were used to evaluate the results of multiple PDT treatments. Two regimens (regimens 2 and 4) for treatment and retreatment were chosen from 5 used in a single-treatment study. Both regimens used a verteporfin dose of 6 mg/m2 infused for 10 minutes. However, regimen 2 used a light dose of 100 J/cm2 applied 20 minutes after the start of the verteporfin infusion, whereas regimen 4 used a light dose of 50, 75, or 100 J/cm2 applied 15 minutes after infusion commenced. Posttreatment evaluations were planned in 31 participants up to 3 months after up to 2 retreatments given at 2- or 4-week intervals after initial PDT treatment. Similar posttreatment evaluations were planned after retreatments in 5 additional participants who were reenrolled some time more than 12 weeks after an initial PDT treatment. RESULTS: The average visual acuity change for the 31 participants who had retreatment within 2 to 4 weeks after the initial treatment and a follow-up examination 16 to 20 weeks after the initial treatment was 0.2 lines (range, -4 to 4 lines) in regimen 2 and -1.0 line (range, -5 to 3 lines) in regimen 4. Similar outcomes were noted in the 5 reenrolled participants. Cessation of fluorescein leakage from classic CNV for at least 1 to 4 weeks could be achieved without loss of visual acuity after at least 2 treatments in 2 (6.5%) of 31 patients. Similar to single-treatment effects, the disappearance of leakage was documented regularly at 1 week after each retreatment. Fluorescein leakage reappeared by 4 to 12 weeks after a retreatment in almost all cases. However, compared with baseline, leakage activity appeared to be reduced after multiple PDT courses. For the 31 patients who had follow-up for 3 months after the last retreatment and had received retreatment 2 to 4 weeks after the initial treatment, progression of CNV beyond the area identified before the retreatment was noted in 10 (48%) of the 21 eyes with classic CNV in regimen 2 and 9 (90%) of 10 eyes in regimen 4. The rate and severity of ocular or systemic adverse events were not increased by multiple applications. CONCLUSIONS: Multiple applications of PDT with verteporfin achieve repetitive, short-term cessation of fluorescein leakage from CNV secondary to AMD, without loss of visual acuity. This strategy can be used in randomized clinical trials investigating the efficacy of verteporfin in PDT for recurrent fluorescein dye leakage from persistent or recurrent CNV, following an initial or subsequent PDT treatment, with maintenance of visual acuity. Retreatments may achieve progressive cessation of leakage and prevent further growth of CNV and subsequent visual loss.


Assuntos
Neovascularização de Coroide/tratamento farmacológico , Degeneração Macular/complicações , Fotoquimioterapia , Fármacos Fotossensibilizantes/uso terapêutico , Porfirinas/uso terapêutico , Idoso , Idoso de 80 Anos ou mais , Permeabilidade Capilar/efeitos dos fármacos , Corioide/irrigação sanguínea , Neovascularização de Coroide/etiologia , Neovascularização de Coroide/metabolismo , Neovascularização de Coroide/patologia , Feminino , Fluoresceína/metabolismo , Angiofluoresceinografia , Seguimentos , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade , Fármacos Fotossensibilizantes/administração & dosagem , Porfirinas/administração & dosagem , Retratamento , Segurança , Resultado do Tratamento , Verteporfina , Acuidade Visual
8.
Am J Ophthalmol ; 127(3): 350-3, 1999 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10088753

RESUMO

PURPOSE: To determine choroidal involvement in presumed tuberculous posterior uveitis by examining indocyanine green angiographic features. METHODS: Indocyanine green angiography was performed according to a standard uveitis angiographic protocol in eight consecutive patients (15 eyes) with presumed posterior tuberculous uveitis. RESULTS: In 100% of the 15 examined eyes, indocyanine green angiography disclosed choroidal lesions that were subclinical, not detected by fundus examination or fluorescein angiography, in six (40%) of 15 eyes. Findings were classified into four main angiographic signs: (1) irregularly distributed, hypofluorescent areas in the early and intermediate phases of angiography that either became isofluorescent (type 1 hypofluorescence) or remained hypofluorescent (type 2 hypofluorescence) in the late phase; (2) numerous, small, focal, hyperfluorescent spots; (3) choroidal vessels that appeared fuzzy in the intermediate phase because of leakage, leading in the late phase to (4) diffuse choroidal hyperfluorescence. Type 1 hypofluorescent lesions, fuzzy choroidal vessels, and diffuse choroidal hyperfluorescence tended to regress after the initiation of antituberculous and corticosteroid treatment. Focal hyperfluorescence tended to be associated with longstanding disease. CONCLUSIONS: Indocyanine green angiography was useful in assessing and quantifying the as yet unknown extent of choroidal involvement in tuberculous posterior uveitis. Its characteristic appearance may be a valuable contribution to the diagnosis and monitoring of treatment response.


Assuntos
Coriorretinite/diagnóstico , Coriorretinite/microbiologia , Angiofluoresceinografia , Corantes Fluorescentes , Verde de Indocianina , Tuberculose Ocular/diagnóstico , Corioide/irrigação sanguínea , Feminino , Fundo de Olho , Humanos , Masculino , Pessoa de Meia-Idade
9.
Am J Ophthalmol ; 113(6): 657-63, 1992 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-1598956

RESUMO

Prolonged choroidal filling on fluorescein angiography in age-related macular degeneration is thought to indicate diffuse thickening of Bruch's membrane. To test the importance of this clinical sign, we reviewed the evolution of disease in eyes of patients with good visual acuity and a readable transit phase of fluorescein angiography at the time of recruitment into a longitudinal study of age-related macular degeneration. Ninety-six eyes satisfied these criteria. Of the 32 eyes with prolonged choroidal filling, 12 (38%) lost two or more lines, of visual acuity by two years, whereas only nine of 64 (14%) eyes with normal choroidal filling did so. The difference was caused by the higher incidence of geographic atrophy in the first group. The proportion of eyes that developed subretinal neovascularization was the same in the two groups, and no pigment epithelial detachments occurred. These findings indicate that this clinical sign has implications concerning visual prognosis in age-related macular degeneration.


Assuntos
Doenças da Coroide/fisiopatologia , Corioide/irrigação sanguínea , Degeneração Macular/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Prognóstico , Fluxo Sanguíneo Regional , Acuidade Visual
10.
Am J Ophthalmol ; 117(1): 19-23, 1994 Jan 15.
Artigo em Inglês | MEDLINE | ID: mdl-8291588

RESUMO

To evaluate iris color, change of iris color, and iris pigment epithelial defects as risk factors in age-related macular degeneration, we compared 101 patients with age-related macular changes with 102 control subjects in a case-control study. Three of 101 patients (3%) and four of 102 control subjects (4%) had epithelial iris defects. Light iris color during youth was reported by 51 of 101 patients (50.5%) and 42 of 102 control subjects (41.2%) (odds ratio, 1.46; P = .184). Of the 101 patients, 26 (25.7%) noticed their iris color to have become lighter during life compared with six of 102 control subjects (5.9%) (odds ratio, 5.5; P = .0001). At present examination, 63 of 101 patients (62.4%) had light irides compared with 43 of 102 control subjects (42.2%) (odds ratio, 2.27; P = .004). These results suggest that initial light iris color and iris pigment epithelial defects are not associated with an increased risk of age-related macular degeneration, whereas decreased stromal iris pigmentation may indicate a higher risk.


Assuntos
Cor de Olho , Doenças da Íris/complicações , Degeneração Macular/etiologia , Epitélio Pigmentado Ocular/patologia , Idoso , Idoso de 80 Anos ou mais , Estudos de Casos e Controles , Feminino , Humanos , Doenças da Íris/patologia , Estudos Longitudinais , Degeneração Macular/patologia , Masculino , Pessoa de Meia-Idade , Razão de Chances , Fatores de Risco
11.
Ophthalmic Genet ; 17(4): 175-86, 1996 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-9010868

RESUMO

The objective of this study was to fully characterize the macular dystrophy phenotype and genotype in a large family of the Zermatt area of Switzerland. Clinical and molecular studies of the family included a comprehensive eye examination and a mutational analysis of the RDS, rhodopsin, and TIMP-3 genes. In selected cases, fluorescein angiography, perimetry, and electroretinography were performed. Forty-two family members at risk of expressing the maculopathy were studied. Of these, 24 were found to be clinically affected. The severity of macular disease in these patients was clearly age-related and different stages of progression were identified. Central pigmentary alterations were seen in adolescent patients, while patients in their late teens and twenties exhibited drusen-like deposits. Later, these defects formed focal areas of atrophy which eventually led to central geographic atrophy with severe visual loss by the fifth decade and cone-rod dysfunction. The transmission of this condition is autosomal dominant with complete penetrance. The underlying genetic defect is a mutation in codon 172 of the RDS/peripherin gene, a gene expressed in both rods and cones, which results in the substitution of tryptophan for an arginine residue at that position. 'Zermatt macular dystrophy' is a dominant, age-related, progressive macular dystrophy which in later stages resembles atrophic age-related macular degeneration. The size of the family studied allowed definition of the clinical spectrum of this condition and identification of the related genetic defect which allows more precise diagnosis and counseling.


Assuntos
Análise Mutacional de DNA/métodos , Proteínas do Olho/genética , Proteínas de Filamentos Intermediários/genética , Degeneração Macular/genética , Glicoproteínas de Membrana , Proteínas do Tecido Nervoso , Mutação Puntual/genética , Adulto , Idoso , Arginina , Feminino , Angiofluoresceinografia , Fundo de Olho , Genótipo , Humanos , Degeneração Macular/metabolismo , Degeneração Macular/patologia , Masculino , Pessoa de Meia-Idade , Linhagem , Periferinas , Fenótipo , Rodopsina/genética , Suíça , Triptofano
12.
Ophthalmic Genet ; 19(3): 131-9, 1998 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-9810568

RESUMO

PURPOSE: The RHO C110Y mutation has been recently reported to cause a phenotypically unspecified form of autosomal dominant retinitis pigmentosa (adRP). The study of a family affected with this mutation allowed us to hereby describe the genotype/phenotype correlation associated with the RHO C110Y mutation. METHODS: A six-generation pedigree cosegregating adRP and RHO C110Y in ten accessible individuals was ophthalmologically investigated. All family members affected with RP went through complete eye examination and ERG testing. RESULTS: The disease first manifested with nyctalopia during adulthood and slowly progressed over the next decades towards tubular visual field defects and relatively preserved central vision. Ophthalmoscopically, the fundus remained almost unaltered until the end of the third decade of life, and then slowly progressed towards typical RP changes with minimal macular involvement by the eighth decade. Color vision remained unaltered. Earliest ERG alteration was limited to the rod system followed by a rod-cone pattern. Scotopic and photopic ERG were recordable until the fourth and sixth decades, respectively. DISCUSSION: RHO C110Y-associated adRP is characterized by a late onset and a mild progression compatible with type 2 or regional RP with little intrafamilial phenotypic variability and complete penetrance. Characterization of genotype-phenotype correlations plays a role in the improvement of genetic and prognostic counselling.


Assuntos
Genes Dominantes , Mutação/fisiologia , Retinose Pigmentar/genética , Rodopsina/genética , Adulto , Idoso , Substituição de Aminoácidos/genética , Progressão da Doença , Eletrorretinografia , Feminino , Angiofluoresceinografia , Fundo de Olho , Genes Dominantes/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Mutação/genética , Linhagem , Retinose Pigmentar/patologia , Retinose Pigmentar/fisiopatologia , Visão Ocular/fisiologia
13.
Br J Ophthalmol ; 77(7): 400-3, 1993 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-8343465

RESUMO

For many years there has been controversy concerning the role of genetic influences in the pathogenesis of age-related macular disease. It is widely believed that the lesions causing visual loss occur in response to age-related changes in Bruch's membrane which are recognised clinically as drusen. In this study the density, size, and confluence of drusen as shown on colour photographs were compared in eyes of 50 spouses and 53 sibling pairs ascertained during a prospective study of age-related macular disease. Concordance between pairs of drusen--number, size, and density-were determined by kappa statistic and chi 2 test for trend. Drusen were absent in one sibling and 26 spouses of patients. There was a trend towards concordance of drusen characteristics between siblings but not between spouses, although the difference achieved 5% significance only for the number and density of drusen in the central macula. The difference of concordance between the probands and spouses and the probands and siblings was significant for all characteristics. These findings support the belief that genetic factors influence age-related changes in Bruch's membrane. They also imply that environmental factors are less important or alternatively that the environmental variation between households included in our study was not great enough to be evident.


Assuntos
Envelhecimento/patologia , Lâmina Basilar da Corioide/patologia , Degeneração Macular/patologia , Idoso , Idoso de 80 Anos ou mais , Exposição Ambiental , Saúde da Família , Feminino , Humanos , Degeneração Macular/etiologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Fatores Sexuais
14.
Curr Eye Res ; 10 Suppl: 171-5, 1991.
Artigo em Inglês | MEDLINE | ID: mdl-1864091

RESUMO

Systemic acyclovir (ACV), a new potent anti-herpes drug, was shown to reduce effectively the morbidity in the acute phase of herpes zoster ophthalmicus (AHZO). Using high dose oral ACV (5 X 800 mg/day) our aim in this study was: (1) to compare disease profiles in the ACV-treated group and in a group of zoster patients having had no ACV, analysed retrospectively; (2) to establish if high-dose ACV was able to prevent severe long term complications of AHZO; and (3) to determine the present role of corticosteroids in AHZO. From 1984 to 1988, 48 patients with AHZO of less than 3 days' duration were included. All patients received at least 7 days of oral ACV (5 X 800 mg/d) associated with topical ACV. Steroids were not given unless severe uveitis occurred. Follow-up was 2 years in 43 patients and 1 year in all 48 patients. Main conclusions from our study are: 1. Ocular involvement occurred in 67% of ACV-treated cases, a rate comparable to our retrospective group (59%) and to the literature (71%). However the rate of severe long term complications was minimal (4%) when compared to our non-treated retrospective group (21%). 2. Steroid treatment was not necessary in any of the ACV-treated patients. 3. ACV was well tolerated and did not have to be discontinued in any of the patients. High dose ACV and avoidance of steroids seems to eliminate the severe complications of AHZO.


Assuntos
Aciclovir/uso terapêutico , Herpes Zoster Oftálmico/tratamento farmacológico , Doença Aguda , Administração Oral , Adolescente , Corticosteroides/uso terapêutico , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Relação Dose-Resposta a Droga , Tolerância a Medicamentos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Estudos Retrospectivos , Uveíte/tratamento farmacológico
15.
Ocul Immunol Inflamm ; 6(3): 189-93, 1998 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-9785610

RESUMO

PURPOSE: Acute posterior multifocal placoid pigment epitheliopathy (APMPPE) is an acquired inflammatory disorder affecting the retina, retinal pigment epithelium, and choroid of healthy adults. APMPPE has been reported to occur after diverse infectious diseases, suggesting a possible immune disorder. The primary site of inflammation remains hypothetical. METHODS/RESULTS: A previously healthy 37-year-old patient developed APMPPE soon after the onset of mumps. Indocyanine green angiography (ICGA) revealed numerous hypofluorescent lesions throughout the posterior pole, outnumbering the lesions detectable either ophthalmoscopically or on fluorescein angiography. The hypofluorescent lesions visible on ICGA disappeared on follow-up studies. CONCLUSION: This case represents the first reported patient with AMPPE following mumps. Our results suggest that a multifocal choroidopathy might be the underlying cause of APMPPE.


Assuntos
Coriorretinite/etiologia , Caxumba/complicações , Epitélio Pigmentado Ocular/patologia , Doença Aguda , Adulto , Coriorretinite/tratamento farmacológico , Coriorretinite/patologia , Angiofluoresceinografia , Fundo de Olho , Humanos , Verde de Indocianina , Masculino , Epitélio Pigmentado Ocular/efeitos dos fármacos , Prednisolona/uso terapêutico , Escopolamina/uso terapêutico , Acuidade Visual
16.
Ophthalmologe ; 91(6): 735-40, 1994 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-7849424

RESUMO

Drusen in the macular area may precede other manifestations of age-related macular disease associated with severe visual loss. To identify fundus changes that might be predictive of advanced age-related maculopathy, we examined 79 patients with drusen for up to 3 years. Fundus photographs and fluorescein angiograms were independently analysed by two readers in a masked fashion using a standardized grading scheme. Fourteen patients (17.7%) developed a new exudative or nonexudative lesion involving the fovea. Delayed choroidal perfusion on the fluorescein angiogram, interpreted as an indicator for diffuse thickening of Bruch's membrane and relative atrophy of the choriocapillaris, was observed in 12 patients, 5 of whom developed geographic atrophy of the retinal pigment epithelium during follow-up (P < 0.009). Additional predictive characteristics included focal hyperpigmentations (P < 0.005) and focal extrafoveal areas of atrophy of the retinal pigment epithelium within 1600 microns of the center of the fovea (P < 0.031). These ocular features allow identification of patients with macular drusen at high risk for the development of complicating macular lesions.


Assuntos
Angiofluoresceinografia , Degeneração Macular/diagnóstico , Epitélio Pigmentado Ocular/patologia , Drusas Retinianas/diagnóstico , Idoso , Atrofia , Lâmina Basilar da Corioide/patologia , Corioide/patologia , Feminino , Humanos , Degeneração Macular/patologia , Masculino , Prognóstico , Drusas Retinianas/patologia , Baixa Visão/diagnóstico , Baixa Visão/patologia
19.
Klin Monbl Augenheilkd ; 196(5): 357-9, 1990 May.
Artigo em Francês | MEDLINE | ID: mdl-2366473

RESUMO

Between 1981 and 1988, vitreous surgery was performed on 28 nondiabetic patients with epiretinal macular fibroplasia. The fibroplasia was idiopathic in 9 eyes, occurred after successful surgery for retinal detachment in 10, and was associated with other ocular disorders in 9. The patients were followed up for between 5 and 72 months. While visual acuity improved in 26 cases, metamorphopsia increased in all. The results were poorer in cases where symptoms had already existed for more than 6 months or where not only the retina, but also the macula was detached. Complications were confined to 3 cases in which peripheral tears occurred intraoperatively; there were 2 postoperative retinal detachments. While increased lens opacification was observed in 7 patients, a recurrence was seen only in one.


Assuntos
Degeneração Macular/cirurgia , Microcirurgia , Complicações Pós-Operatórias/cirurgia , Descolamento Retiniano/cirurgia , Vitrectomia , Adulto , Idoso , Feminino , Fibrose , Seguimentos , Humanos , Macula Lutea/patologia , Masculino , Pessoa de Meia-Idade , Acuidade Visual/fisiologia
20.
Klin Monbl Augenheilkd ; 208(5): 368-9, 1996 May.
Artigo em Francês | MEDLINE | ID: mdl-8766054

RESUMO

BACKGROUND: Combined simultaneous occlusion of the central retinal artery and central retinal vein occurs very rarely and has been observed in patients with systemic disorders such as leukaemia. CASE REPORT: We report a case of a young man who suffered a combined retinal vascular occlusion with occlusion of the posterior ciliary arteries following blunt trauma to the face with massive haematoma of the lids. To our knowledge, this is the first time that such a sequence of events has been recorded.


Assuntos
Concussão Encefálica/complicações , Lobo Frontal/lesões , Oclusão da Artéria Retiniana/diagnóstico , Oclusão da Veia Retiniana/diagnóstico , Lobo Temporal/lesões , Adulto , Concussão Encefálica/diagnóstico , Angiofluoresceinografia , Humanos , Masculino
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