Vancomycin-associated hemorrhagic occlusive retinal vasculitis masquerading as central retinal vein occlusion / Vasculite hemorrágica oclusiva da retina associada à vancomicina (HORV) mascarada como oclusão da veia central da retina

ABSTRACT A 69-year-old female was referred with sudden unilateral painless decreased vision that began 2 days after uncomplicated cataract surgery in the left eye. Visual acuity was hand motion and biomicroscopy showed a mild anterior chamber reaction, no hypopyon, and an intraocular lens that had been placed within the capsular bag. A dilated fundus examination revealed optic disk edema, widespread deep and superficial intraretinal hemorrhages, retinal ischemia, and macular edema. A cardiological evaluation was normal and thrombophilia tests were negative. After surgery, prophylactic vancomycin (1mg/0.1ml) had been injected intracamerally. The patient was diagnosed with hemorrhagic occlusive retinal vasculitis likely secondary to vancomycin hypersensitivity. Recognition of this entity is important to ensure early treatment and the use of intracameral vancomycin in the fellow eye should be avoided after cataract surgery.

RESUMO Esse caso se refere a uma paciente de 69 anos, sexo feminino, com relato de baixa acuidade visual súbita e indolor no olho esquerdo, de início 2 dias após cirurgia de catarata sem complicações. A acuidade visual era de movimento de mãos e a biomicroscopia mostrou reação de câmara anterior moderada, sem hipópio, e lente intraocular posicionada dentro do saco capsular. A fundoscopia evidenciou edema de disco óptico, hemorragias difusas intrarretinianas superficiais e profundas, isquemia retiniana e edema macular. A avaliação cardiológica foi normal e os testes para trombofilia foram negativos. Ao final da cirurgia foi injetado antibioticoprofilaxia com vancomicina (1mg/0,1ml) na câmara anterior. A paciente foi diagnosticada com vasculite hemorrágica oclusiva da retina secundária à hipersensibilidade a vancomicina. O reconhecimento dessa entidade é importante para o tratamento precoce e para evitar o uso de vancomicina intracameral em caso de cirurgia de catarata no olho contralateral.

Vancomycin-associated hemorrhagic occlusive retinal vasculitis masquerading as central retinal vein occlusion.

A 69-year-old female was referred with sudden unilateral painless decreased vision that began 2 days after uncomplicated cataract surgery in the left eye. Visual acuity was hand motion and biomicroscopy showed a mild anterior chamber reaction, no hypopyon, and an intraocular lens that had been placed within the capsular bag. A dilated fundus examination revealed optic disk edema, widespread deep and superficial intraretinal hemorrhages, retinal ischemia, and macular edema. A cardiological evaluation was normal and thrombophilia tests were negative. After surgery, prophylactic vancomycin (1mg/0.1ml) had been injected intracamerally. The patient was diagnosed with hemorrhagic occlusive retinal vasculitis likely secondary to vancomycin hypersensitivity. Recognition of this entity is important to ensure early treatment and the use of intracameral vancomycin in the fellow eye should be avoided after cataract surgery.

Decisive role of histopathology of lens capsule in the diagnosis of chronic fungal postoperative endophthalmitis.

We report three cases of refractory chronic endophthalmitis after cataract surgery presenting to a referral center, and with repeated negative cultures. Initial treatment consisted of intravitreal and systemic antibiotics, with partial improvement. After subsequent worsening, pars plana vitrectomy, intraocular lens explantation and en bloc capsulectomy were performed. Histopathological examination revealed multiple filamentous fungal structures, sequestered between anterior/posterior lens capsule in all cases. Chronic postoperative fungal endophthalmitis may manifest with negative cultures possibly associated with sequestration of the microorganism into the capsular bag. Careful histopathological examination of lens capsule in these cases may be essential for a definite diagnosis.

Humanistic and Economic Burden of Blindness Associated with Retinal Disorders in a Brazilian Sample: A Cross-Sectional Study.

INTRODUCTION: Vision impairment and blindness have been significantly associated with high medical care expenditures, decrease in health utility, and loss or reduction of productivity. The objective of this study was to assess the humanistic and economic burden of blindness in a Brazilian sample from a societal perspective. METHODS: Cross-sectional, observational, and multicenter study enrolling individuals with blindness (defined as the best corrected visual acuity less than 6/60 in the better-seeing eye) caused by retinal disorders. Data collection was performed between December 2012 and December 2014 through face-to-face interview using a structured questionnaire and three standardized patient-reported outcomes instruments. Direct costs were estimated by multiplying the amount of resources used (12-month recall period) by the corresponding unit cost. Productivity losses were measured using the human capital method. All data were collected in Brazilian real (BRL) and converted to United States dollar (USD), using the exchange rate of 1 USD = 3.0415 BRL (May 7, 2015). RESULTS: A total of 146 subjects from 17 research sites were included with a mean age of 68 (SD = 14.8) years and equal gender distribution. Blindness negatively affected both general and vision-specific health-related quality of life. One-half of patients presented some level of anxiety and depression; of these, about 50% with moderate or severe symptoms. Around one-third of subjects (34.2%) reported at least one fall in the previous 12 months due to vision impairment; of these subjects, 14% reported fractures. Emergency room visits and hospitalization were reported by around 25% and 5% of subjects, respectively. The short-term costs (annual costs) of severe vision impairment or blindness for the studied subjects was USD 128,389.09 (USD 879.37 per person). Total medical direct costs summed USD 116,182.00 (USD 795.77 per person), 61.7% of which was due to outpatient visits (with physicians and other healthcare professionals). The long-term costs (lifetime productivity loss) totalized USD 1,962,599.50 (USD 13,442.47 per person). CONCLUSION: This study demonstrated that blindness imposes both humanistic and economic burden for individuals and for Brazilian society. It also pointed out that there is room to improve blindness management, especially for the poorest people, including health education for individuals, availability of services, and reduction of barriers to patients' access to healthcare assistance. This was a good starting point; however, further research is needed.

Ocular alterations, molecular findings, and three novel pathological mutations in a series of NF2 patients.

PURPOSE: To evaluate ophthalmological and molecular findings in eight patients with a clinical diagnosis of neurofibromatosis type 2 (NF2). New pathological mutations are described and variability in the ophthalmic phenotype and NF2 allelic heterogeneity are discussed. METHODS: Eye examination was performed in eight NF2 patients, and it included the measurement of the visual acuity, biomicroscopy, dilated fundus examination, color fundus photography, infrared photography, and spectral domain optical coherence tomography (SD-OCT). Molecular analysis was performed with whole-exome sequencing using DNA derived from peripheral blood mononuclear cells from each individual. RESULTS: Ophthalmological features were present in all patients, ranging from subtle retinal alterations identified only using SD-OCT to severe ocular damage present at birth. Six mutations were observed: two patients with stop codon mutation as shown on table 1 and result section, three patients with frameshift mutation as shown on table 1 and result section. Three novel mutations were found among them. CONCLUSIONS: It is a descriptive study of a rare disease, with poor previous literature. Clinical and genetic data are shown, reviving the need to further studies to clarify the genotype-phenotype correlations in NF2.

Quantitative analysis of external limiting membrane, ellipsoid zone and interdigitation zone defects in patients with macular holes.

PURPOSE: To investigate the correlation between the length of external limiting membrane (ELM), ellipsoid zone (EZ) and interdigitation zone (IZ) defects and visual prognosis in patients undergoing macular hole (MH) surgery, using spectral-domain optical coherence tomography (SD-OCT). METHODS: This is a retrospective, consecutive, observational case series study. Fifty-two eyes of 52 patients with primary MH were evaluated. A quantitative analysis of ELM, EZ and IZ defects was performed preoperatively and at 3 and 6 months postoperatively using SD-OCT. The correlation between pre- and postoperative ELM, EZ and IZ defects and the best-corrected visual acuity (BCVA) was investigated. RESULTS: The lengths of ELM, EZ and IZ defects correlated significantly with BCVA in each study period (P < 0.001). Preoperative measures of these band defects were also associated with visual outcomes 3 and 6 months after surgery (P < 0.05). Considering all preoperative parameters, the length of the ELM defect was the factor most strongly correlated with BCVA at 6 months (ß = 0.643, P < 0.012). The integrity of the ELM was the only factor significantly associated with BCVA at 6 months (ß = 0.427; P = 0.004). CONCLUSIONS: The preoperative length of the ELM defect is the strongest predictor of visual acuity after MH surgery. Postoperative integrity of the ELM is significantly associated with visual restoration after surgical treatment of MH.

Influence of Vitreomacular Adhesion on Anti-Vascular Endothelial Growth Factor Treatment for Neovascular Age-Related Macular Degeneration.

PURPOSE: To investigate the effect of vitreomacular adhesion (VMA) on the outcome of antiangiogenic treatment for neovascular age-related macular degeneration (AMD). METHODS: Ninety-nine eyes of 83 patients were used in our cohort study. We prospectively evaluated best corrected visual acuity (BCVA) and central retinal thickness (CRT) in patients with neovascular AMD at baseline and 1, 2, 3, 6, and 12 months after treatment with anti-vascular endothelial growth factor (anti-VEGF) agents. All patients were stratified by spectral domain optical coherence tomography into 2 groups (i.e., VMA[+] and VMA[-]) according to the presence or absence of VMA, and the response to treatment was evaluated. RESULTS: Fifty-four eyes (54.5%) were included in the VMA(-) group and 45 eyes (45.5%) comprised the VMA(+) group. In paired comparisons of mean BCVA between baseline and each follow-up visit (1, 2, 3, 6, and 12 months), the VMA(-) group showed statistically significant improvement at 1, 2, and 3 months compared to baseline, and BCVA significantly improved only at 3 months in the VMA(+) group. For both groups, paired comparisons of CRT showed a statistically significant decrease when data obtained at 1, 2, 3, 6, and 12 months were compared to baseline values (p < 0.05). CONCLUSIONS: Posterior VMA is associated with a worse short-term outcome in patients with neovascular AMD treated with anti-VEGF agents.

Spectral-Domain Optical Coherence Tomography Findings in Neurofibromatosis Type 2.

PURPOSE: Neurofibromatosis type 2 (NF2) is an autosomal-dominant disease, characterized by bilateral vestibular schwannomas, multiple central nervous system (CNS) tumors, skin tumors, and juvenile cataract. The present study assessed retinal abnormalities using spectral-domain optical coherence tomography (SD-OCT) in a case series of NF2 patients. METHODS: Nine NF2 patients from the neurofibromatosis outpatient reference center of the Federal University of Minas Gerais, in Brazil, were submitted to a complete anamnesis and a detailed ophthalmic evaluation, including SD-OCT, to detect retinal lesions. RESULTS: Of the nine NF2 patients evaluated, five had an early onset (<20 years) of NF2, and four patients had a late onset (>20 years) of symptoms. SD-OCT scans revealed retinal abnormalities in every patient with early onset (EOS) and in two patients with late onset (LOS) of the disease. In the EOS group, SD-OCT scans revealed flame-shaped epiretinal membranes (ERM) with peculiar characteristics in four eyes of three patients. Two patients had fine undulations of the inner retinal surface with a subtle ERM. Retinal hamartomas were present in four eyes of three patients with EOS; in two eyes, they were subclinical and were detected only by SD-OCT scans. In two patients with LOS and one patient with EOS, SD-OCT scans revealed retinal tufts of a nerve fiber layer. CONCLUSIONS: SD-OCT revealed ERM in most patients with NF2, therefore it may be a valuable exam for evaluating NF2 patients. Epiretinal membranes in NF2 has unique features, distinguishing it from idiopathic ERM or membranes associated with other diseases. We suggest that flame-shaped ERM seems to be specific for NF2 and that ERM can be considered as an important diagnostic sign of NF2.

Causes of visual impairment in children seen at a university-based hospital low vision service in Brazil.

PURPOSE: To evaluate the epidemiologic characteristics of patients 0-7 years of age with visual impairment registered at a university hospital low vision service in Brazil. METHODS: The medical records of visually impaired patients were retrospectively reviewed for sociodemographic characteristics and ocular and associated deficiencies. In addition to biographical information, the following data were collected: ocular disorders, diagnosis, affected anatomic region, etiology, and avoidable or unavoidable causes. RESULTS: A total of 229 patients were included, 65% of whom were referred from rural health centers. The mean age at first appointment was 39.4 months. Associated nonophthalmic disorders were present in 47% of patients. The most prevalent disorders were congenital cataract (14%), toxoplasmosis (14%), and congenital glaucoma (13%). The most commonly affected anatomic regions were the retina (18%) and lens (15%); 33% had a normal-appearing globe. Using World Health Organization classifications, the most prevalent underlying etiologies were undetermined (43%), perinatal/neonatal factors (22%), and intrauterine factors (20%). Avoidable causes were found in 64% of the children. CONCLUSIONS: The three leading causes of infant blindness in our patient cohort were congenital cataract, toxoplasmosis, and congenital glaucoma. The most commonly affected anatomic regions were retina, lens, and normal-appearing globe. The percentage of avoidable causes of impairment was high and the mean age at first appointment was late.

CFH Y402H polymorphism and response to intravitreal Ranibizumab in brazilian patients with neovascular age-related macular degeneration / Associação do polimorfismo Y402H do gene CFH com a resposta terapêutica ao Ranibizumabe em pacientes portadores de degeneração macular relacionada à idade neovascular

Objective: To investigate the association between CFH gene polymorphism and response to ranibizumab in Brazilian patients with neovascular age-related macular degeneration (AMD). Methods: 95 patients were genotyped for the CFH rs1061170 (Y402H) single nucleotide polymorphism. Patients with neovascular AMD initially received intravitreal ranibizumab injections for three months and were retreated as needed. Visual acuity (VA) and central retinal thickness (CRT) were measured before treatment and at 1, 3, 6, and 12 months post-treatment. Results: For patients with the TT and TC genotypes, paired comparisons of VA showed a statistically significant improvement when the data obtained at all visits were compared with baseline. Patients homozygous for the risk genotype (CC) did not show a statistically significant improvement when VA obtained at visits 1, 3, 6 and 12 were compared with baseline. For all genotypes, paired comparisons of CRT showed a statistically significant improvement when the data obtained at visits 1, 3, 6 and 12 were compared with baseline. Conclusion: Patients with the CC genotype showed poorer long-term functional response to intravitreal ranibizumab. .

Objetivo: investigar a associação entre polimorfismo do gene CFH e a resposta terapêutica ao ranibizumabe na degeneração macular relacionada à idade (DMRI) neovascular. Métodos: noventa e cinco pacientes foram submetidos à genotipagem para identificação do polimorfismo rs1061170 (Y402H) do gene CFH. Pacientes portadores de DMRI neovascular receberam inicialmente três injeções intravítreas de ranibizumabe com intervalo mensal entre elas. A partir de então, foram retratados de acordo com a necessidade. Acuidade visual (AV) e espessura macular central (EMC) foram medidas antes e 1, 3, 6 e 12 meses após o início do tratamento. Resultados: para pacientes portadores dos genótipos TT e TC, a análise pareada da AV mostrou melhora estatisticamente significativa quando os dados obtidos em todas as visitas foram comparados com aqueles obtidos antes do início do tratamento. Para pacientes homozigotos para o alelo de risco (CC), não houve diferença estatisticamente significativa quando a AV obtida nas visitas 1, 3, 6 e 12 foi comparada com aquela obtida antes do início do tratamento. Para todos os genótipos, a análise pareada da EMC mostrou melhora estatisticamente significativa em todas as avaliações. Conclusão: pacientes portadores do genótipo CC apresentaram pior resposta funcional em longo prazo após o tratamento com ranibizumabe intravítreo. .

CFH Y402H polymorphism and response to intravitreal ranibizumab in Brazilian patients with neovascular age-related macular degeneration.

OBJECTIVE: To investigate the association between CFH gene polymorphism and response to ranibizumab in Brazilian patients with neovascular age-related macular degeneration (AMD). METHODS: 95 patients were genotyped for the CFH rs1061170 (Y402H) single nucleotide polymorphism. Patients with neovascular AMD initially received intravitreal ranibizumab injections for three months and were retreated as needed. Visual acuity (VA) and central retinal thickness (CRT) were measured before treatment and at 1, 3, 6, and 12 months post-treatment. RESULTS: For patients with the TT and TC genotypes, paired comparisons of VA showed a statistically significant improvement when the data obtained at all visits were compared with baseline. Patients homozygous for the risk genotype (CC) did not show a statistically significant improvement when VA obtained at visits 1, 3, 6 and 12 were compared with baseline. For all genotypes, paired comparisons of CRT showed a statistically significant improvement when the data obtained at visits 1, 3, 6 and 12 were compared with baseline. CONCLUSION: Patients with the CC genotype showed poorer long-term functional response to intravitreal ranibizumab.

VEGF gene polymorphism and response to intravitreal ranibizumab in neovascular age-related macular degeneration.

BACKGROUND/AIMS: To investigate the association between VEGF gene polymorphism and response to ranibizumab in neovascular age-related macular degeneration (AMD). METHODS: A total of 92 patients were genotyped for the VEGF rs1413711 single nucleotide polymorphism. Patients with neovascular AMD initially received 3 monthly ranibizumab intravitreal injections and were retreated as needed. Visual acuity (VA) and central retinal thickness (CRT) were measured before and 1, 3, 6 and 12 months after treatment. RESULTS: For patients with TT and CT genotypes, paired comparisons of mean VA showed improvement when the data obtained at all visits were compared with baseline values, in contrast to patients with the CC genotype. CRT statistically improved at all visits for all genotypes. CONCLUSION: Patients with the CC genotype showed poorer long-term functional and anatomical response to anti-VEGF therapy.

Estudo clínico e padrão de herança em pacientes com retinose pigmentar / Clinical study and pattern of inheritance in patients with retinitis pigmentosa

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.

Contribuição oftalmológica no exame de pacientes do Serviço de Genética do Hospital das Clínicas da UFMG / Ophthalmology contribution to patients referred from the genetic service of UFMG University Hospital

Objetivos: determinar o perfil dos pacientes encaminhados do Serviço Especial de Genética do Hospital das Clínicas da UFMG para avaliação oftalmológica no Hospital São Geraldo, no período de julho de 2008 a janeiro de 2010; determinar as principais causas desses encaminhamentos, as alterações encontradas nos pacientes e os achados mais comuns em algumas das doenças encontradas. Métodos: estudo descritivo baseado em dados dos pacientes atendidos no Setor de Retina do Hospital São Geraldo, encaminhados do Serviço Especial de Genética do Hospital das Clínicas da UFMG, no período de julho de 2008 a janeiro de 2010. Foram coletadas informações sobre gênero, idade, motivo do encaminhamento, principais características clínicas e suspeita diagnóstica. Para cada paciente foram realizados biomicroscopia do segmento anterior e exame do fundo de olho. Resultados: no período foram avaliados 100 pacientes. As principais suspeitas diagnósticas foram retardo mental e dismorfismos sem diagnóstico estabelecido (21%), síndrome de Marfan (12%), síndrome de Cohen (11%), erro inato do metabolismo (9%), neurofibromatose tipo 1 (5%) e síndrome de Stickler (4%). A avaliação oftalmológica contribuiu para o esclarecimento diagnóstico em 66% dos casos. As principais alterações encontradas foram: palidez de disco óptico 10%; estrabismo, iridodonese e alteração da pigmentação da retina, 7% cada; aumento da escavação do disco óptico 6%, disco óptico hipoplásico 5%, coloboma eptose palpebral, 4% cada. Conclusões: as alterações oftalmológicas são características importantes em diversas doenças genéticas. Quando avaliadas adequadamente podem contribuir para o diagnóstico e para estabelecer o prognóstico das síndromes genéticas...

Objectives: To identify the profile of the patients referred from the Special Genetic Service of UFMG University Hospital to ophthalmologic evaluation at São Geraldo Hospital from July 2008 through January 2010; to determine the major causes of such referrals, the patients? disorders, and the most common findings for some of the diseases. Methods: This is a descriptive study based on data of patients at the Retina Sector of São Geraldo Hospital that were referred from the Special Genetic Service of UFMG University Hospital from July 2008 through 2010. The collection included data on gender, age, reason for referral, main clinical characteristic, and suspected diagnosis. Biomicroscopy of the anterior segment and fundoscopy were carried out for all patients. Results: A total of 100 patients was assessed in the period. The main suspected diagnoses were mental retardation and dimorphisms without established diagnosis (21 %), Marfan syndrome (12 %), Cohen syndrome (11 %), innate errors of the metabolism (9 %), neurofibromatosis type 1 (5 %), and Sitckler syndrome (4 %). The ophthalmologic examination contributed to clarifying diagnosis in 66 % of the cases. The major disorders found were: pale optic disc (10 %); strabismus, irregular retinal pigmentation, and iridodonesis (7 % each); increased optic disc cupping (6 %); hypoplastic optic disc (5 %); and coloboma and ptosis (4 % each). Conclusions: Ophthalmologic disorders are important characteristics inherent to several genetic disorders. When properly assessed, they are of great relevance for diagnosis and prognostic of genetic syndromes...

Importance of genetic polymorphisms in the response to age-related macular degeneration treatment / Importância dos polimorfismos genéticos na resposta terapêutica da degeneração macular relacionada à idade

Age-related macular degeneration (AMD) is a degenerative disorder that affects the central retina and involves the Bruch's membrane, the retinal pigment epithelium and the photoreceptors. Recent studies have shown that polymorphisms of the CFH, LOC387715 and VEGF genes are associated with AMD. Herein, we review the literature to analyze the association between the main genetic polymorphisms and the response to the existing therapeutic modalities. Patients with CFH high-risk alleles show a poorer response to preventive treatment of AMD with antioxidants and zinc.The association between genetic polymorphisms and response to photodynamic therapy and antiangiogenic drugs, however, is controversial until now.

A degeneração macular relacionada à idade (DMRI) é uma doença degenerativa que afeta a retina central e envolve a membrana de Bruch, o epitélio pigmentar da retina e os fotorreceptores. Estudos recentes têm mostrado que polimorfismos dos genes CFH, LOC387715 e VEGF estão associados com a DMRI. Neste trabalho, é feita uma revisão da literatura para análise da associação entre os principais polimorfismos genéticos e a resposta às diferentes modalidades terapêuticas existentes. Observa-se que os pacientes portadores dos alelos de risco do gene CFH apresentam uma pior resposta ao tratamento preventivo da DMRI com antioxidantes e zinco. Já a associação entre o polimorfismo genético e a resposta à terapia fotodinâmica e às drogas antiangiogênicas é, até o momento, controversa.

Homozygosity for the +674C>T polymorphism on VEGF gene is associated with age-related macular degeneration in a Brazilian cohort.

PURPOSE: To investigate the association between VEGF gene polymorphism and age-related macular degeneration (AMD) in a Brazilian cohort. METHODS: We examined 160 affected individuals and 140 sex- and age-matched controls recruited at the Vision Institute and the Retina Department, São Geraldo Hospital, Minas Gerais Federal University, Brazil, between 2007 and 2011. Genotyping for the VEGF rs1413711 single nucleotide polymorphism (SNP) (+674C>T) was performed. The incidence rate ratios and 95% confidence interval (CI) for AMD for this genotype was calculated. The odds ratio (OR) was also assessed by using logistic regression, controlling for CFH and LOC387715 risk genotype. RESULTS: We observed a prevalence of homozygosity (TT genotype) of 18.1% for rs1413711 among AMD cases compared with 5.8% among controls (P < 0.002). The ORs for this polymorphism were 3.6 (95%CI 1.6-8.2) for homozygous subjects and 1.5 (95%CI 1.1-2.1, P < 0.01) if the subject had at least one risk allele. When we studied separately exudative and dry AMD groups, this polymorphism was statistically significant for both groups. Controlling for CFH and LOC387715 risk genotype the OR was 3.0 for VEGF homozygous, and the OR increases if the patient is homozygous for the three genes. CONCLUSION: The present data suggests that VEGF TT genotype is associated with AMD among Brazilian patients.

[Vitreous cyst and retinitis pigmentosa: case report]. / Cisto vítreo e retinose pigmentária: relato de caso.

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.

Cisto vítreo e retinose pigmentária: relato de caso / Vitreous cyst and retinitis pigmentosa: case report

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.

The role of molecular genetic factors in age-related macular degeneration.

Age-related macular degeneration (AMD) is the most frequent cause of irreversible blindness in the elderly in developed countries. Although the etiology of AMD remains largely unknown, numerous studies have suggested that both genes and environmental risk factors significantly influence the risk of developing AMD. Recently, single nucleotide polymorphisms, DNA sequence variations found within the complement factor H (CFH) gene, have been found to be strongly associated with the development of AMD. Several other genes have had at least one positive association finding and deserve further exploration. The purpose of this review is to provide an extensive report of the current data of AMD genetics and the contribution of this knowledge helps to the better understanding of its pathophysiology.