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Purpose To compare the vision-specific quality of life (QoL) of individuals with Stargardt disease (STGD) with that of healthy individuals and to investigate the association between vision-specific QoL and functional vision. Methods This cross-sectional study included 41 patients with STGD and 46 healthy volunteers matched by age and gender. Best corrected visual acuity (BCVA) was used to calculate the Functional Acuity Score (FAS) and Goldmann perimetry the Functional Field Score (FFS). These scores were combined to obtain the Functional Vision Score (FVS). Vision-specific QoL was assessed using the 25-item version of the National Eye Institute Visual Function Questionnaire (NEI VFQ-25). Results The groups had similar sociodemographic and clinical characteristics. There were significant differences in BCVA, vision-specific QoL assessed by the NEI VFQ-25, and FVS ( p Conclusions Individuals with STGD had significant impairment of vision-specific QoL and functional vision compared with controls and the FVS was the objective evaluation method most correlated with vision-specific QoL in this population.

Objectives To assess depression and quality of life in individuals with Stargardt’s disease (SD), macular dystrophy whose central vision loss begins in the first decades of life. Methods This observational, cross-sectional study included 41 SD patients and 46 healthy controls, aged 18 to 63 years old, in Minas Gerais, Brazil. Major depression episode was assessed by the Mini International Neuropsychiatric Interview, depressive symptomatology by the Beck Depression Inventory (BDI) and Hamilton Depression Scale (HAM-D) and quality of life by the National Eye Institute Visual Function Questionnaire. The comparison between sociodemographic variables, quality of life and depression was performed using Fisher’s exact test and Mann-Whitney-Wilcoxon test. Results The prevalence of depression was 12.2% in the sample with SD while in the control group was 8.7% (p = 0.614). No significant differences were observed between patients and the control group regarding the prevalence of depression and sociodemographic variables. Patients with SD had overall lower quality of life scores (59.7 vs. 88.7, p < 0.001), and presented inverse correlation between depressive symptoms, as assessed by BDI (Rho = -0.49, p < 0.001) and by HAM-D (Rho = -0.45, p = 0.003) with quality of life scores. Conclusion Depressive symptoms were the major factors affecting quality of life, regardless of sociodemographic data. Individuals with SD may develop copying strategies, seek mental care to prevent the increase of depression and decrease of quality of life.

Among environmental subjects the necessity of rational practices and water savings is important in the containporaneous society. In the public schools the inadequate use of the water is frequent, as well as the existence of leakages in the hydraulical installations and the use of non-economic hydraulic equipments. This paper aims at evaluating the water consumption and perception index by the users concerning this natural resource in school. Specifically, factors were investigated in twelve public schools of the Minas Gerais State, located in the Triângulo Mineiro region. Through questionnaires, direct interviews and comments it was characterized the form as the water is used in the schools. Information was obtained for the calculation of water use perception index concerning its rational use, according to Ywashima (2005) methodology. It was observed some inconsistency between consumption indicator and perception index in the year 2011, possibly because of wrong data of monthly water consumption (error on hydrometer reading) and existence of leakages not detectable or error in the number of students in schools. In general, the water users have the knowledge of the attitudes to be employed to promote the water savings. Some actions for the rational use of water are proposed. Keywords: water consumption index, water rational use, perception index, public schools, Triângulo mineiro.

Objectives: Williams-Beuren Syndrome (WBS) is a multisystem disorder caused by the deletion of contiguous genes on chromosome 7q11.23. Ophthalmologic abnormalities and deficits in visual motor integration are important features of WBS. Here we describe our experience with Brazilian WBS patients and their ophthalmologic features.Methods: Sixteen patients with confirmed WBS went through thorough ophthalmologic examination.Results: The most frequent ocular findings in our group of patients were stellate iris pattern (81.2%), hyperopic astigmatism (50%), hyperopia (37.5%), tortuosity of retinal vessel (37.5%) and strabismus (18.7%).Conclusions: This is the second report of ophthalmologic abnormalities in a group of Brazilian individuals with WBS. It is extremely valuable that specific populations are studied so that clinical diagnosis can be refined and management of patients can be driven to the most common presentations of the disease.

Models based on the diffusive-advective equations are valuable tools for forecasting of contamination levels downstream from spill points. These models require field parameters for validation. The longitudinal dispersion coefficient EL, which translates the transport potential of dilute pollutant is amongst the most important parameters. Based on field techniques using saline and fluorescent tracers, this study determined the EL in three streams intercepted by highway BR-050, all located in the Paranaíba River Basin. The discrepancy ratios (Rd) of some experimental methods and equations reported in the literature were analyzed and compared with the standard routing procedure. Comparing the results of the Moment (statistical), the Chatwin, the peak concentration and the crown concentration methods, the lowest discrepancy ratios were obtained for the latter two methods. Ribeiro, Silva, Soares, and Guedes (2010) also showed that the peak concentration and the crown concentration methods produce the lowest discrepancy ratios. The analysis of contamination scenarios clearly illustrates the direct relationship between pollutant transport capacity and water discharges in natural watercourses. Models based on the diffusive-advective equations are valuable tools for forecasting of contamination levels downstream from spill points. These models require field parameters for validation. The longitudinal dispersion coefficient EL, which translates the transport potential of dilute pollutant is amongst the most important parameters. Based on field techniques using saline and fluorescent tracers, this study determined the EL in three streams intercepted by highway BR-050, all located in the Paranaíba River Basin. The discrepancy ratios (Rd) of some experimental methods and equations reported in the literature were analyzed and compared with the standard routing procedure. Comparing the results of the Moment (statistical), the Chatwin, the peak concentration and the crown concentration methods, the lowest discrepancy ratios were obtained for the latter two methods. Ribeiro, Silva, Soares, and Guedes (2010) also showed that the peak concentration and the crown concentration methods produce the lowest discrepancy ratios. The analysis of contamination scenarios clearly illustrates the direct relationship between pollutant transport capacity and water discharges in natural watercourses.

OBJETIVO: Comparar os efeitos cardiovasculares e midriáticos da fenilefrina tópica nas concentrações de 2,5 e 10,0%. MÉTODOS: Ensaio clínico do tipo caso controle, randomizado, com auto-emparelhamento. Foram monitoradas a freqüência cardíaca (FC), a pressão arterial (PA) e a midríase em voluntários sadios, com idade entre 18 e 45 anos, após a instilação da fenilefrina a 2,5 e a 10,0% em duas ocasiões diferentes. RESULTADOS: A amostra foi constituída de 28 voluntários, sendo 17 do sexo masculino e 11 do sexo feminino, com a idade média de 26,5 anos. Não foi verificado nenhum padrão de mudanças com relação à freqüência cardíaca e à pressão arterial sistólica. Com relação à pressão arterial diastólica média dos indivíduos, não foi encontrada variação significativa após a instilação da fenilefrina a 2,5% nos tempos de um, cinco, dez e 30 minutos, o que se revelou bem diferente quando do uso da fenilefrina a 10,0%, com a qual houve aumento da pressão arterial diastólica média após cinco e dez minutos, e subseqüente queda após 30 minutos, porém sem significância estatística. A midríase foi maior com a fenilefrina a 10,0% nos dois olhos, sendo a diferença estatisticamente significativa. CONCLUSÕES: Observou-se maior efeito midriático da fenilefrina a 10,0%, quando comparada a 2,5%, com significância estatística. Já com relação aos efeitos cardiovasculares não houve diferença estatística entre as duas concentrações.PURPOSE: To compare the cardiovascular and mydriatic effects of 2.5% and 10.0% phenylephrine. METHODS: A case-control, randomized, crossover clinical trial study. We monitored heart rate (HR), blood pressure (BP) and mydriasis in healthy volunteers aged 18-45 years after the instillation of 2.5% and 10.0% phenylephrine in two different occasions. RESULTS: The sample comprised 28 healthy volunteers, 17 male and 11 female, with a mean age of 26.5 years. No changes in heart rate and systolic blood pressure were observed. No significant variation of the mean diastolic blood pressure was found after 1, 5, 10 and 30- minute instillation of 2.5% phenylephrine. However, with 10.0% phenylephrine, there was an increase in mean diastolic blood pressure after five and ten minutes, followed by a drop after 30 minutes, which was not statistically significant. Mydriasis was more marked in both eyes with a statistically significant difference after instillation of 10.0% phenylephrine. CONCLUSIONS: The mydriatic effect was greater with 10.0% phenylephrine than with 2.5% phenylephrine and the difference was statistically significant. No statistically significant difference was found in relation to cardiovascular effects in both phenylephrine concentrations.

Oculodentodigital dysplasia (ODDD) is a rare inherited disorder affecting the development of the face, eyes, teeth, and limbs. The majority of cases of ODDD are inherited as an autosomal dominant condition. There are few reports of probable autosomal recessive transmission. Affected patients exhibit a distinctive physiognomy with a narrow nose, hypoplastic alae nasi, and anteverted nostrils, bilateral microphthalmos, and microcornea. Sometimes iris anomalies and secondary glaucoma are present. There are malformations of the distal extremities such as syndactyly. In addition, there are defects in the dental enamel with hypoplasia and yellow discoloration of the teeth. Less common features include hypotrichosis, intracranial calcifications, and conductive deafness secondary to recurrent otitis media. We describe three brothers with ODDD. Their parents are first cousins and present no features of ODDD. These data are in favor of autosomal recessive inheritance and suggest genetic heterogeneity for this entity.

The expression and potential roles of fibroblast growth factors (FGF) and their cognate FGF receptors (FGFR) in adult mammalian retinal ganglion cells (RGC) are poorly known. We show that FGFR-3 and FGFR-4 are especially pronounced on RGC and amacrine cell bodies in adult pig inner retinae both in vivo and in vitro. Western blotting revealed distinct profiles for each receptor. Expression of each FGFR and effects of the preferred ligand for FGFR-3, FGF9, upon RGC survival and neurite outgrowth were examined in primary retinal cell cultures: whereas there was no stimulation of neuritogenesis, RGC survival was promoted in a dose-dependent manner (ED(50) approximately 500 pg/ml, mean maximal increase of 60%) and could be completely blocked by addition of FGF9 neutralising antibody. Experiments with three additional FGF (FGF1, FGF2, and FGF4) showed no stimulation of RGC survival above control levels. Taken together, these data suggest that the ligand-receptor couple FGF9-FGFR-3 may function to promote survival of adult mammalian RGC, and their application might be beneficial in retinal degenerative diseases such as glaucoma.

Cistos vítreos são achados raros do segmento posterior ocular. Podem ocorrer em olhos com doenças oculares preexistentes ou em olhos aparentemente normais. Este estudo é um relato de caso de um paciente com retinose pigmentária e cisto vítreo, e descreve sua apresentação clínica e ultrassonográfica.Vitreous cyst is a rare condition of the posterior segment of the eye. It can occur in eyes with coexistent ocular diseases or in eyes that are otherwise normal. This study reports a case of vitreous cyst in a patient with retinitis pigmentosa and presents its clinical and ultrasonographic features.

Vitreous cyst is a rare condition of the posterior segment of the eye. It can occur in eyes with coexistent ocular diseases or in eyes that are otherwise normal. This study reports a case of vitreous cyst in a patient with retinitis pigmentosa and presents its clinical and ultrasonographic features.

OBJETIVO: Realizar análise epidemiológica de pacientes com retinose pigmentar (RP), caracterizando aspectos clínicos da doença e o padrão de herança encontrado em nosso meio, de acordo com a presença ou não de síndrome de Usher. MÉTODOS: Foram estudados 155 pacientes com RP, tendo sido a amostra dividida em 2 grupos: grupo 1 (n=130), com pacientes diagnosticados com RP clássica, sem associação com alterações sistêmicas; e grupo 2 (n=25), com pacientes diagnosticados com Síndrome de Usher (USH). Foram caracterizados aspectos clínicos da doença (sexo, idade, sintomas oculares, acuidade visual, alterações do segmento anterior e posterior e alterações em exames complementares) e o padrão de herança encontrado. Os dados foram obtidos através de anamnese, exame oftalmológico completo e exames subsidiários (campo visual manual, eletrorretinograma, retinografia simples e fluorescente), no período de fevereiro de 2003 a dezembro de 2009. Foi utilizado o programa SPSS versão 13.0 para análise dos dados estatísticos. RESULTADOS: A herança autossômica recessiva foi a forma mais comumente encontrada (76,2% no grupo 1), mas em proporção maior do que a de outros trabalhos da literatura. Um menor número de casos com padrão recessivo ligado ao X (1,5%) também foi notado no grupo 1. Não houve diferença estatisticamente significante entre as características clínicas entre os dois grupos. CONCLUSÃO: O padrão de herança encontrado nos pacientes com RP clássica foi similar ao encontrado em outros trabalhos. As características clínicas foram semelhantes nos dois grupos estudados. OBJECTIVE: To make an epidemiological analysis of patients with retinitis pigmentosa (RP), characterizing clinical aspects of the disease and the pattern of inheritance found in the population studied, according to the presence or not of Usher Syndrome. METHODS: 155 patients with RP were studied and the sample was divided into two groups: group 1 (n = 130) with patients diagnosed with classical RP not associated with systemic symptoms; and group 2 (n = 25) with patients diagnosed with Usher syndrome (USH). We characterized clinical aspects of the disease (sex, age, ocular symptoms, visual acuity and anterior and posterior segment changes) and the pattern of inheritance. Data were obtained through medical history, complete ophthalmic examination and complementary exams (manual visual field, electroretinogram, retinography and fluorescent angiography) for the period of February 2003 to December 2009. We used SPSS version 13.0 for statistical data analysis. RESULTS: The autosomal recessive inheritance was the most commonly found (76.2% in group 1), but in greater proportion than that of other studies. A smaller number of cases with X-linked recessive pattern (1.5%) was also noted in group 1. There was no statistically significant difference between the clinical characteristics of the two groups. CONCLUSION: The pattern of inheritance found in patients with classical RP was similar to that found in other studies. Clinical characteristics were similar in both groups.

Background: Williams-Beuren syndrome is a multisystemic genetic disorder caused by a contiguous gene deletion at 7q11.23. Keratoconus is a complex disease and it is suspected to have a genetic origin, although the specific gene responsible for keratoconus has not been identified. Although there are several ocular features in Williams-Beuren syndrome, keratoconus is not regularly described as part of this syndrome.Purpose: To report a new patient with keratoconus and Williams-Beuren syndrome.Discussion: This is the third case of an association between Williams-Beuren syndrome and keratoconus. The authors believe that the Williams-Beuren syndrome chromosome region can be a possible target for further investigation as the genetic basis of keratoconus.

Vitreous cyst is a rare condition of the posterior segment of the eye. It can occur in eyes with coexistent ocular diseases or in eyes that are otherwise normal. This study reports a case of vitreous cyst in a patient with retinitis pigmentosa and presents its clinical and ultrasonographic features.

OBJETIVO: Comparar os efeitos cardiovasculares e midriáticos da fenilefrina tópica nas concentrações de 2,5 e 10,0%. MÉTODOS: Ensaio clínico do tipo caso controle, randomizado, com auto-emparelhamento. Foram monitoradas a freqüência cardíaca (FC), a pressão arterial (PA) e a midríase em voluntários sadios, com idade entre 18 e 45 anos, após a instilação da fenilefrina a 2,5 e a 10,0% em duas ocasiões diferentes. RESULTADOS: A amostra foi constituída de 28 voluntários, sendo 17 do sexo masculino e 11 do sexo feminino, com a idade média de 26,5 anos. Não foi verificado nenhum padrão de mudanças com relação à freqüência cardíaca e à pressão arterial sistólica. Com relação à pressão arterial diastólica média dos indivíduos, não foi encontrada variação significativa após a instilação da fenilefrina a 2,5% nos tempos de um, cinco, dez e 30 minutos, o que se revelou bem diferente quando do uso da fenilefrina a 10,0%, com a qual houve aumento da pressão arterial diastólica média após cinco e dez minutos, e subseqüente queda após 30 minutos, porém sem significância estatística. A midríase foi maior com a fenilefrina a 10,0% nos dois olhos, sendo a diferença estatisticamente significativa. CONCLUSÕES: Observou-se maior efeito midriático da fenilefrina a 10,0%, quando comparada a 2,5%, com significância estatística. Já com relação aos efeitos cardiovasculares não houve diferença estatística entre as duas concentrações. PURPOSE: To compare the cardiovascular and mydriatic effects of 2.5% and 10.0% phenylephrine. METHODS: A case-control, randomized, crossover clinical trial study. We monitored heart rate (HR), blood pressure (BP) and mydriasis in healthy volunteers aged 18-45 years after the instillation of 2.5% and 10.0% phenylephrine in two different occasions. RESULTS: The sample comprised 28 healthy volunteers, 17 male and 11 female, with a mean age of 26.5 years. No changes in heart rate and systolic blood pressure were observed. No significant variation of the mean diastolic blood pressure was found after 1, 5, 10 and 30- minute instillation of 2.5% phenylephrine. However, with 10.0% phenylephrine, there was an increase in mean diastolic blood pressure after five and ten minutes, followed by a drop after 30 minutes, which was not statistically significant. Mydriasis was more marked in both eyes with a statistically significant difference after instillation of 10.0% phenylephrine. CONCLUSIONS: The mydriatic effect was greater with 10.0% phenylephrine than with 2.5% phenylephrine and the difference was statistically significant. No statistically significant difference was found in relation to cardiovascular effects in both phenylephrine concentrations.

To compare the cardiovascular and mydriatic effects of 2.5% and 10.0% phenylephrine.A case-control, randomized, crossover clinical trial study. We monitored heart rate (HR), blood pressure (BP) and mydriasis in healthy volunteers aged 18-45 years after the instillation of 2.5% and 10.0% phenylephrine in two different occasions.The sample comprised 28 healthy volunteers, 17 male and 11 female, with a mean age of 26.5 years. No changes in heart rate and systolic blood pressure were observed. No significant variation of the mean diastolic blood pressure was found after 1, 5, 10 and 30- minute instillation of 2.5% phenylephrine. However, with 10.0% phenylephrine, there was an increase in mean diastolic blood pressure after five and ten minutes, followed by a drop after 30 minutes, which was not statistically significant. Mydriasis was more marked in both eyes with a statistically significant difference after instillation of 10.0% phenylephrine.The mydriatic effect was greater with 10.0% phenylephrine than with 2.5% phenylephrine and the difference was statistically significant. No statistically significant difference was found in relation to cardiovascular effects in both phenylephrine concentrations.

Retinitis pigmentosa is an inherited degenerative disease of photoreceptors leading to blindness. A well-characterized model for this disease is provided by the retinal degeneration mouse, in which the gene for the rod cGMP phosphodiesterase is mutated, as in some affected human families. We report that D-cis-diltiazem, a calcium-channel blocker that also acts at light-sensitive cGMP-gated channels, rescued photoreceptors and preserved visual function in the retinal degeneration mouse. The long record of diltiazem prescription in cardiology should facilitate the design of clinical trials for some forms of retinitis pigmentosa.

To determine whether with-the-rule (WTR) or against-the-rule (ATR) astigmatism gives a better visual outcome after cataract and intraocular lens (IOL) implantation surgery by comparing the uncorrected distance and near visual acuities in eyes with low, simple, myopic residual astigmatism.S. Geraldo Eye Hospital, Federal University of Minas Gerais, Belo Horizonte, Brazil.Two groups of 10 eyes each, one with WTR and the other with ATR simple, myopic astigmatism, were studied after uneventful cataract and IOL implantation surgery. All patients had an uncorrected distance visual acuity of 20/40 or better. The negative cylinder ranged from 1.00 to 1.50 diopters (D). The uncorrected distance and near visual acuities of the two groups were compared.There was no statistically significant between-group difference in uncorrected distance visual acuity. However, for uncorrected near, the difference between groups was highly statistically significant (P.001). Patients with ATR astigmatism had much better uncorrected near acuity than those with WTR astigmatism.In pseudophakia, low, simple, ATR myopic astigmatism is better than WTR astigmatism because it provides superior uncorrected near visual acuity.

Unilateral retinitis pigmentosa is a rare disease characterized by loss of photoreceptors and retinal pigment deposition without affecting the contralateral eye. Although described more than one hundred years its existence is still questioned. This article reports a case of a patient with abnormalities suggestive of unilateral retinitis pigmentosa. The clinical and complementary examinations are discussed.