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1.
Pak J Pharm Sci ; 34(5): 1693-1698, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34803004

RESUMO

Retinal detachment (RD) describes the separation of neurosensory retina from the underlying pigment epithelium. There are various methods of treating RD but in many cases, an unusual delay between occurrence of retinal detachment and surgery has been observed. This study was conducted to find the extent of factors involved in delay in surgery. This cross sectional study was carried out at LRBT Eye Hospital, Lahore for 6 months. The non-probability, consecutive sampling technique was used. The demographic information was recorded. The patients were asked for causes of delay in retinal detachment surgery and all factors were measured. Data was analyzed by SPSS version 21. The mean age of patients was 52±9.86 years; the male to female ratio was 1.5:1. About 9.3% patients said that they do not know where to go, 30% patients thought that it was not a severe condition,36.4% patients thought that it would self-heal,17.1% patients didn't go to the doctor due to financial constraints whereas 7.1% patients did not have VR ophthalmologist near their residence. Statistically significant difference was found between the factors and education level of the patients i.e. p-value<0.05. Our study results concluded that people needed to be educated regarding the importance of retinal detachment and surgical procedures and complications associated with it.


Assuntos
Oftalmopatias Hereditárias/epidemiologia , Oftalmopatias Hereditárias/genética , Descolamento Retiniano/epidemiologia , Descolamento Retiniano/genética , Adulto , Estudos Transversais , Coleta de Dados , Predisposição Genética para Doença , Conhecimentos, Atitudes e Prática em Saúde , Acessibilidade aos Serviços de Saúde , Humanos , Incidência , Pessoa de Meia-Idade , Paquistão/epidemiologia , Fatores Socioeconômicos , Inquéritos e Questionários
2.
JAMA Ophthalmol ; 139(2): 165-173, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33331850

RESUMO

Importance: Glaucoma-related adverse events constitute serious complications of cataract removal in infancy, yet long-term data on incidence and visual outcome remain lacking. Objective: To identify and characterize incident cases of glaucoma and glaucoma-related adverse events (glaucoma + glaucoma suspect) among children in the Infant Aphakia Treatment Study (IATS) by the age of 10.5 years and to determine whether these diagnoses are associated with optic nerve head (ONH) and peripapillary retinal nerve fiber layer (RNFL) assessment. Design, Setting, and Participants: Analysis of a multicenter randomized clinical trial of 114 infants with unilateral congenital cataract who were aged 1 to 6 months at surgery. Data on long-term glaucoma-related status and outcomes were collected when children were 10.5 years old (July 14, 2015, to July 12, 2019) and analyzed from March 30, 2019, to August 6, 2019. Interventions: Participants were randomized at cataract surgery to either primary intraocular lens (IOL), or aphakia (contact lens [CL]). Standardized definitions of glaucoma and glaucoma suspect were created for IATS and applied for surveillance and diagnosis. Main Outcomes and Measures: Development of glaucoma and glaucoma + glaucoma suspect in operated-on eyes up to age 10.5 years, plus intraocular pressure, axial length, RNFL (by optical coherence tomography), and ONH photographs. Results: In Kaplan-Meier analysis, for all study eyes combined (n = 114), risk of glaucoma after cataract removal rose from 9% (95% CI, 5%-16%) at 1 year, to 17% (95% CI, 11%-25%) at 5 years, to 22% (95% CI, 16%-31%) at 10 years. The risk of glaucoma plus glaucoma suspect diagnosis after cataract removal rose from 12% (95% CI, 7%-20%) at 1 year, to 31% (95% CI, 24%-41%) at 5 years, to 40% (95% CI, 32%-50%) at 10 years. Risk of glaucoma and glaucoma plus glaucoma suspect diagnosis at 10 years was not significantly different between treatment groups. Eyes with glaucoma (compared with eyes with glaucoma suspect or neither) had longer axial length but relatively preserved RNFL and similar ONH appearance and visual acuity at age 10 years. Conclusions and Relevance: Risk of glaucoma-related adverse events continues to increase with longer follow-up of children following unilateral cataract removal in infancy and is not associated with primary IOL implantation. Development of glaucoma (or glaucoma suspect) after removal of unilateral congenital cataract was not associated with worse visual acuity outcomes at 10 years. Trial Registration: ClinicalTrials.gov Identifier: NCT00212134.


Assuntos
Afacia Pós-Catarata/cirurgia , Extração de Catarata/efeitos adversos , Catarata/terapia , Oftalmopatias Hereditárias/cirurgia , Glaucoma/epidemiologia , Implante de Lente Intraocular/efeitos adversos , Lentes Intraoculares/efeitos adversos , Afacia Pós-Catarata/diagnóstico , Afacia Pós-Catarata/epidemiologia , Catarata/congênito , Catarata/diagnóstico , Catarata/epidemiologia , Criança , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/epidemiologia , Feminino , Glaucoma/diagnóstico por imagem , Glaucoma/fisiopatologia , Humanos , Incidência , Lactente , Pressão Intraocular , Masculino , Estudos Prospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Acuidade Visual
3.
Am J Med Genet C Semin Med Genet ; 184(3): 860-868, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32896097

RESUMO

Current genetic screening methods for inherited eye diseases are concentrated on the coding exons of known disease genes (gene panels, clinical exome). These tests have a variable and often limited diagnostic rate depending on the clinical presentation, size of the gene panel and our understanding of the inheritance of the disorder (with examples described in this issue). There are numerous possible explanations for the missing heritability of these cases including undetected variants within the relevant gene (intronic, up/down-stream and structural variants), variants harbored in genes outside the targeted panel, intergenic variants, variants undetectable by the applied technology, complex/non-Mendelian inheritance, and nongenetic phenocopies. In this article we further explore and review methods to investigate these sources of missing heritability.


Assuntos
Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Genoma Humano/genética , Genômica/métodos , Oftalmopatias Hereditárias/epidemiologia , Oftalmopatias Hereditárias/terapia , Humanos , Oftalmologia/tendências
4.
Am J Med Genet C Semin Med Genet ; 184(3): 728-752, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32865313

RESUMO

Leber congenital amaurosis (LCA) and early-onset retinal dystrophy (EORD) are severe inherited retinal dystrophy that can cause deep blindness childhood. They represent 5% of all retinal dystrophies in the world population and about 10% in Brazil. Clinical findings and molecular basis of syndromic and nonsyndromic LCA/EORD in a Brazilian sample (152 patients/137 families) were studied. In this population, 15 genes were found to be related to the phenotype, 38 new variants were detected and four new complex alleles were discovered. Among 123 variants found, the most common were CEP290: c.2991+1655A>G, CRB1: p.Cys948Tyr, and RPGRIP1: exon10-18 deletion.


Assuntos
Antígenos de Neoplasias/genética , Proteínas de Ciclo Celular/genética , Proteínas do Citoesqueleto/genética , Oftalmopatias Hereditárias/genética , Proteínas do Olho/genética , Amaurose Congênita de Leber/genética , Proteínas de Membrana/genética , Proteínas do Tecido Nervoso/genética , Distrofias Retinianas/genética , Alelos , Brasil/epidemiologia , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/epidemiologia , Oftalmopatias Hereditárias/patologia , Feminino , Estudos de Associação Genética , Genótipo , Humanos , Amaurose Congênita de Leber/diagnóstico , Amaurose Congênita de Leber/epidemiologia , Amaurose Congênita de Leber/patologia , Masculino , Mutação/genética , Linhagem , Fenótipo , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/epidemiologia , Distrofias Retinianas/patologia
5.
Am J Med Genet C Semin Med Genet ; 184(3): 753-761, 2020 09.
Artigo em Inglês | MEDLINE | ID: mdl-32856789

RESUMO

South America comprises of heterogeneous topographies, populations, and health care systems. Therefore, it is not surprising to see differences among the countries regarding expertise, education, and practices of ophthalmic genetics for patients with rare eye diseases. Nevertheless, common challenges such as limited genetics training in medical schools and among ophthalmologists, scarcity of diagnostic tools for phenotyping, and expensive genetic testing not covered by the public healthcare systems, are seen in all of them. Here, we provide a detailed report of the current status of ophthalmic genetics, described by the personal views of local ophthalmologists from Brazil, Colombia, Argentina, and Chile. By reporting our strengths and weaknesses as a region, we intend to highlight the need for guidelines on how to manage these patients aligned with public health policies. Our region contributes to research worldwide, with thousands of well diagnosed patients from a number of unique and genetically diverse populations. The constant expansion of ophthalmic genetics and molecular diagnostics requires us to join forces to collaborate across South America and with other countries to improve access to next-generation diagnostics and ultimately improve patient care.


Assuntos
Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Oftalmologia/tendências , Medicina de Precisão , Oftalmopatias Hereditárias/epidemiologia , Oftalmopatias Hereditárias/terapia , Humanos , América do Sul/epidemiologia
6.
Biosci Rep ; 39(6)2019 06 28.
Artigo em Inglês | MEDLINE | ID: mdl-31160485

RESUMO

Purpose: To report a rare case of spontaneous suprachoroidal hemorrhage (SSCH) in a high myopia patient with rhegmatogenous retinal detachment (RRD) and successful treatment.Methods: We present a case of SSCH that occurred in a 73 woman with high myopia with RRD and discuss the results of a systemic review of the literature published from 1999 to 2017.Results: Phacoemulsification without intraocular lens implantation and vitrectomy combined with silicone oil injection was performed and retinal detachment and choroidal detachment were reattached after oil removed. In the literature review, we found that among a total of 36 patients (37 eyes), acute secondary glaucoma was a complication in 70.3% (26 eyes) of the cases, and over half of the cases (24 eyes, 64.9%) were treated with surgery. Eighteen cases (50%) were characterized by systemic hypertension and 21 cases (58.3%) had abnormal hemostasis. Age-related macular degeneration (ARMD) was the most common (12 eyes, 32.4%) ocular disease and was followed by glaucoma (7 cases, 18.9%). Visual acuity was classified as hand motion (HM) or worse in 25 eyes (out of 34 eyes, 73.5%) at initial presentation and in 25 eyes (out of 36 eyes, 69.4%) upon final examination. Nine cases experienced significant visual improvement, including six that underwent vitrectomy.Conclusion: Advanced age, systemic anticoagulation, and hypertension are strong risk factors. RRD associated with massive SSCH is an extremely rare event. Vitrectomy and choroidal blood drainage can effectively remove suprachoroidal hemorrhage (SCH) and promote retinal reattachment in these eyes. However, the final visual prognosis usually remains poor.


Assuntos
Oftalmopatias Hereditárias/epidemiologia , Glaucoma de Ângulo Aberto/epidemiologia , Miopia/epidemiologia , Descolamento Retiniano/epidemiologia , Hemorragia Subaracnóidea/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Oftalmopatias Hereditárias/patologia , Oftalmopatias Hereditárias/cirurgia , Feminino , Glaucoma de Ângulo Aberto/fisiopatologia , Glaucoma de Ângulo Aberto/cirurgia , Humanos , Degeneração Macular/epidemiologia , Degeneração Macular/genética , Degeneração Macular/patologia , Masculino , Pessoa de Meia-Idade , Miopia/patologia , Miopia/cirurgia , Descolamento Retiniano/patologia , Descolamento Retiniano/cirurgia , Hemorragia Subaracnóidea/patologia , Hemorragia Subaracnóidea/cirurgia , Acuidade Visual/fisiologia , Vitrectomia/métodos
8.
Br J Ophthalmol ; 103(4): 499-503, 2019 04.
Artigo em Inglês | MEDLINE | ID: mdl-29875232

RESUMO

BACKGROUND: Central cysts of the iris pigment epithelium, or iris flocculi, are frequently reported in the literature in association with thoracic aortic aneurysm and dissection due to smooth muscle alpha-actin 2 (ACTA2) mutations. Children with ACTA2 mutations may also present with congenital mydriasis. We report our experience regarding the frequency of ACTA2 mutation in children with the above iris anomalies. METHODS: This is a retrospective, consecutive case series of all children presenting for iris flocculi or congenital mydriasis at a single tertiary centre from October 2012 to December 2016. RESULTS: 13 children with iris flocculi and 3 with congenital mydriasis presented during the study period. 10 children with iris flocculi completed genetic testing, and none were positive for ACTA2 mutation. All children with congenital mydriasis presented with a multisystem smooth muscle dysfunction syndrome; two of these three children tested positive for missense R179 ACTA2 mutations. CONCLUSIONS: In this series, ACTA2 mutation or copy number variation was not detected in children presenting for iris flocculi, whereas congenital mydriasis was associated with R179 mutation in both cases that tested positive for ACTA2 mutation. The case of congenital mydriasis without typical cardiac features of the R179 ACTA2 phenotype or intracranial vasculopathy was negative for ACTA2 mutation. While all children presenting with these iris anomalies should be offered a genetic evaluation, incidence data should inform genetic counselling, particularly in the absence of a family history of aneurysm or sudden death, or systemic signs of smooth muscle dysfunction.


Assuntos
Actinas/genética , DNA/genética , Oftalmopatias Hereditárias/epidemiologia , Iris/anormalidades , Mutação , Midríase/epidemiologia , Actinas/metabolismo , Pré-Escolar , Análise Mutacional de DNA , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Feminino , Seguimentos , Humanos , Incidência , Lactente , Iris/diagnóstico por imagem , Imageamento por Ressonância Magnética , Masculino , Midríase/diagnóstico , Midríase/genética , Fenótipo , Estudos Retrospectivos , Fatores de Tempo
9.
Ophthalmic Genet ; 39(6): 728-734, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30457409

RESUMO

BACKGROUND: Anterior segment dysgenesis (ASD) and Axenfeld-Rieger spectrum (ARS) are mainly due to PITX2 and FOXC1 defects, but it is difficult in some patients to differentiate among PITX2-, FOXC1-, PAX6- and CYP1B1-related disorders. Here, we set out to characterize the pathogenic variants (PV) in PITX2, FOXC1, CYP1B1 and PAX6 in nine unrelated Mexican ARS/ASD patients and in their available affected/unaffected relatives. MATERIALS AND METHODS: Automated Sanger sequencing of PITX2, FOXC1, PAX6 and CYP1B1 was performed; those patients without a PV were subsequently analyzed by Multiplex Ligation-dependent Probe Amplification (MLPA) for PITX2, FOXC1 and PAX6. Missense variants were evaluated with the MutPred, Provean, PMUT, SIFT, PolyPhen-2, CUPSAT and HOPE programs. RESULTS: We identified three novel PV in PITX2 (NM_153427.2:c.217G>A, c.233T>C and c.279del) and two in FOXC1 [NM_001453.2:c.274C>T (novel) and c.454T>A] in five ARS patients. The previously reported FOXC1 c.367C>T or p.(Gln123*) variant was identified in a patient with ASD. The ocular phenotype related to FOXC1 included aniridia, corneal opacity and early onset glaucoma, while an asymmetric ocular phenotype and aniridia were associated with PITX2. No gene rearrangements were documented by MLPA analysis, nor were any PV identified in PAX6 or CYP1B1. CONCLUSIONS: Heterozygous PV in the PITX2 and FOXC1 genes accounted for 66% (6/9) of the ARS/ASD cases. The absence of PAX6 or CYP1B1 abnormalities could reflect our small sample size, although their analysis could be justified in ARS/ASD patients that present with congenital glaucoma or aniridia.


Assuntos
Segmento Anterior do Olho/anormalidades , Citocromo P-450 CYP1B1/genética , Anormalidades do Olho/genética , Oftalmopatias Hereditárias/genética , Fatores de Transcrição Forkhead/genética , Proteínas de Homeodomínio/genética , Mutação de Sentido Incorreto , Fator de Transcrição PAX6/genética , Fatores de Transcrição/genética , Criança , Pré-Escolar , Anormalidades do Olho/epidemiologia , Oftalmopatias Hereditárias/epidemiologia , Feminino , Genótipo , Heterozigoto , Humanos , Lactente , Masculino , México/epidemiologia , Biologia Molecular , Reação em Cadeia da Polimerase Multiplex , Adulto Jovem , Proteína Homeobox PITX2
10.
Eye (Lond) ; 31(5): 762-770, 2017 May.
Artigo em Inglês | MEDLINE | ID: mdl-28106889

RESUMO

PurposeTo report the incidence and associated factors for the development of vitreomacular interface abnormality (VMIA) in patients with diabetic macular edema (DME) who received intravitreal injection (IVI) of anti-VEGF (Bevacizumab and Ranibizumab) treatment.MethodsA retrospective observational study. Patients with DME followed at least 6 months were reviewed. Baseline best-corrected visual acuity (BCVA), central retinal thickness (CRT) and final BCVA, CRT in eyes with and without VMIA were compared. Multiple logistic regression was also used to investigate the risk factors of VMIA formation in patients with DME treated by anti-VEGF.ResultsA total of 201 eyes in 142 patients met the inclusion criteria of the study. VMIA developed in 44 eyes (21.89%) of patients during a mean follow-up period of 40.84 months. The estimated mean incidence of VMIA formation was 6.43% per year. Poor baseline BCVA was found to be a risk factor for VMIA development (P=0.001, odds ratio=5.299, 95% confidence interval: 1.972 to 14.238). There was no difference between eyes with and without VMIA formation in improving BCVA (P=0.557) and lowering the macular edema (eyes without VMIA formation: -107.72±171.91 µm; eyes with VMIA formation: -155.02±212.27 µm, P=0.133).ConclusionsThis study revealed the incidence of VMIA formation in IVI anti-VEGF treated DME eyes was 6.43%. Poor baseline BCVA was found to be a risk factor for VMIA formation. Both eyes with and without VMIA development had favorable response to anti-VEGF treatment.


Assuntos
Bevacizumab/efeitos adversos , Doenças da Coroide/epidemiologia , Retinopatia Diabética/tratamento farmacológico , Oftalmopatias Hereditárias/epidemiologia , Edema Macular/tratamento farmacológico , Ranibizumab/efeitos adversos , Degeneração Retiniana/epidemiologia , Inibidores da Angiogênese/administração & dosagem , Inibidores da Angiogênese/efeitos adversos , Bevacizumab/administração & dosagem , Doenças da Coroide/etiologia , Retinopatia Diabética/complicações , Retinopatia Diabética/diagnóstico , Oftalmopatias Hereditárias/etiologia , Feminino , Seguimentos , Humanos , Incidência , Injeções Intravítreas , Edema Macular/diagnóstico , Edema Macular/etiologia , Masculino , Pessoa de Meia-Idade , Ranibizumab/administração & dosagem , Retina/patologia , Degeneração Retiniana/etiologia , Estudos Retrospectivos , Fatores de Risco , Taiwan/epidemiologia , Fatores de Tempo , Tomografia de Coerência Óptica , Fator A de Crescimento do Endotélio Vascular/antagonistas & inibidores , Acuidade Visual
11.
Childs Nerv Syst ; 30(7): 1197-200, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24573961

RESUMO

PURPOSE: Diagnosing idiopathic intracranial hypertension (IIH), or pseudotumor cerebri, can be challenging in children. Diagnosis is based on lumbar puncture, opening pressures, and appearance of the optic disk. Misdiagnosis of papilledema, a typical finding, may lead to unnecessary treatments and procedures. We report 52 children over a 6-year period to better identify the true incidence of pseudopapilledema and other factors that may confound the diagnosis of IIH. METHODS: A retrospective chart review approved by the Institutional Review Board was performed. Fifty-two children under the age of 21 referred to us based on suspected IIH or papilledema from 2007 to 2013 are included in this study. Patients were assessed by a pediatric ophthalmologist and a neurosurgeon. RESULTS: Fifty-two children were initially diagnosed with IIH and/or papilledema; 26 diagnoses were revised to pseudopapilledema after pediatric ophthalmological review. Out of those 26 patients with pseudopapilledema, 14 had undergone lumbar punctures, 19 had MRIs, 9 had CTs, and 12 were taking medications-these medications were discontinued upon revision of the diagnoses. The difference in the CSF opening pressure between children diagnosed with true IIH (32.7 cm H2O) and children diagnosed with pseudopapilledema (24.7 cm H2O) was statistically significant. CONCLUSIONS: IIH diagnosis is heavily reliant on the appearance of the optic disk. Pediatric ophthalmological assessment is essential to carefully examine the optic disk and prevent further unnecessary investigation and treatments. Close communication between pediatricians, ophthalmologists, and neurosurgeons can avoid invasive procedures for children who do have pseudopapilledema, and not IIH or associated papilledema.


Assuntos
Oftalmopatias Hereditárias/diagnóstico , Disco Óptico/patologia , Doenças do Nervo Óptico/diagnóstico , Papiledema/diagnóstico , Pseudotumor Cerebral/diagnóstico , Adolescente , Criança , Pré-Escolar , Diagnóstico Diferencial , Oftalmopatias Hereditárias/epidemiologia , Feminino , Humanos , Incidência , Masculino , Doenças do Nervo Óptico/epidemiologia , Estudos Retrospectivos , Adulto Jovem
12.
PLoS One ; 8(11): e80174, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-24236173

RESUMO

PURPOSE: To define the incidence and demographic characteristics of rhegmatogenous retinal detachment (RRD) requiring surgery in Korea. DESIGN: Nationwide population-based retrospective study. METHODS: Patients who underwent surgery for RRD from 2007 to 2011 were retrospectively identified using the diagnostic code for RRD and the surgical codes for retinal detachment surgeries in the national claim database. The average incidence rate of RRD during the 5-year period was estimated using the population data of the 2010 Census in Korea. RESULTS: A total of 24,928 surgically treated RRD cases were identified. The average incidence of surgery requiring RRD was 10.39 cases per 100,000 person-years [95% confidence interval (CI), 10.26-10.52). The incidence in men (11.32 cases per 100,000 person-years; 95% CI: 11.13-11.51) was significantly higher than that in women (9.47 cases per 100,000 person-years; 95% CI: 9.29-9.64) (p<0.001). The incidence of surgery requiring RRD showed a bimodal distribution across age groups, with one peak (28.55 cases per 100,000 person-years; 95% CI: 27.46-29.67) representing patients between 65 and 69 years of age and the second peak (approximately 8.5 per 100,000 person-years) representing patients between 20 and 29 years of age. The male-to-female ratio was approximately 1.0 for the peak-incidence age groups, whereas the ratio was higher for the other age groups. CONCLUSIONS: The incidence of RRD in the Korean population was similar to that reported previously, with the peak incidence being lower than that in the Caucasian population. The age-specific RRD incidence pattern in Korea followed a bimodal distribution.


Assuntos
Oftalmopatias Hereditárias/epidemiologia , Descolamento Retiniano/epidemiologia , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Oftalmopatias Hereditárias/cirurgia , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Pessoa de Meia-Idade , República da Coreia , Descolamento Retiniano/cirurgia , Estudos Retrospectivos , Adulto Jovem
13.
J Fr Ophtalmol ; 36(9): 779-88, 2013 Nov.
Artigo em Francês | MEDLINE | ID: mdl-24144522

RESUMO

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adult onset, which is transmitted as an autosomal dominant trait. In addition to neurologic symptoms, FAP may be associated with weight loss, cardiac and renal failure and ocular complications. FAP is a devastating disease, causing death within 10years after the first symptoms. The TTR Val30Met mutation is the most common of more than 100 amyloidogenic mutations identified worldwide. Liver transplantation (LT) is currently the only treatment for preventing synthesis of the amyloidogenic variants of TTR. LT can halt progression of the neuropathy in up to 70% of cases and doubles the overall median survival of young Val30Met patients. Oral administration of tafamidis, which prevents deposition of mutated TTR, is now available to delay neurologic complications in early stages of the disease. Ocular manifestations of FAP are frequent and mainly include keratoconjunctivitis sicca, secondary glaucoma, vitreous deposits and pupillary abnormalities. Retinal and choroidal vascular abnormalities are more rare. Since ocular TTR is synthesized, at least in part, in the retinal pigment epithelium, LT does not influence the course of ocular involvement. The effects of tafamidis on the latter are still unknown. Because LT and symptomatic treatments greatly improve life expectancy of patients with FAP, ocular involvement is becoming a more frequent challenge to address. This review summarizes the pathophysiology, clinical findings and possible treatments of ocular manifestations of FAP.


Assuntos
Neuropatias Amiloides Familiares/complicações , Oftalmopatias Hereditárias/etiologia , Adulto , Neuropatias Amiloides Familiares/diagnóstico , Neuropatias Amiloides Familiares/epidemiologia , Olho/metabolismo , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/epidemiologia , Glaucoma/genética , Humanos , Doenças da Íris/genética , Pré-Albumina/metabolismo
14.
Klin Monbl Augenheilkd ; 230(8): 814-9, 2013 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-23670523

RESUMO

PURPOSE: The aim of this study was to evaluate results of optical coherence tomography (OCT) with regard to anatomic and functional outcome after scleral buckling surgery (SBS) in macula-off rhegmatogenous retinal detachment (RRD). METHODS: Medical charts of 87 patients (87 eyes), who underwent SBS for macula off RRD were analysed retrospectively. Patients with follow-up ≥ 6 months were included. Exclusion criteria were giant retinal tears, retinal dialysis, chorioretinal dystrophies, proliferative vitreoretinopathy ≥ grade-C1, schisis detachment and vitreous opacities. Reattachment success rate, pre- and postoperative visual acuity (VA) were examined. Postoperative spectral-domain (SD) OCT images were evaluated. The status of photoreceptor inner segment/outer segment (IS/OS) and external limiting memrane (ELM) junction were analysed. Potential risk factors influencing postoperative VA were evaluated by using linear multivariate logistic regression. RESULTS: The primary anatomic success rate was 93.8 % (81 eyes), final success rate was 98.7 % (86 eyes). Preserved ELM (OR 0.58, p = 0.004) and IS/OS integrity (OR 0.84, p = 0.031), drainage of subretinal fluid (OR 0.42, p < 0.0001) were detected as significant independent factors for influencing postoperative VA favourably. Duration of detachment > 6 days (OR 1.46, p = 0.04), two/three retinal breaks (OR 1.30, OR 1.36, p < 0.0001) were significant independent risk factors for a poor postoperative VA. Severe IS/OS disruption was the most important risk factor for poor postoperative VA (ß 0.724, OR 2.06, p < 0.0001). CONCLUSION: Severe IS/OS disruption may be the most important predictor of postoperative VA after successful surgery in macula-off rhegmatogenous retinal detachment.


Assuntos
Oftalmopatias Hereditárias/patologia , Oftalmopatias Hereditárias/cirurgia , Complicações Pós-Operatórias/epidemiologia , Descolamento Retiniano/patologia , Descolamento Retiniano/cirurgia , Recurvamento da Esclera/estatística & dados numéricos , Tomografia de Coerência Óptica/estatística & dados numéricos , Transtornos da Visão/epidemiologia , Transtornos da Visão/prevenção & controle , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Oftalmopatias Hereditárias/epidemiologia , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Recuperação de Função Fisiológica , Reprodutibilidade dos Testes , Descolamento Retiniano/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Sensibilidade e Especificidade , Resultado do Tratamento , Turquia/epidemiologia , Transtornos da Visão/diagnóstico , Acuidade Visual , Adulto Jovem
15.
Klin Monbl Augenheilkd ; 230(4): 409-12, 2013 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-23629793

RESUMO

BACKGROUND: It was the aim of this retrospective study to analyse the anatomical success rate and functional outcome of patients with rhegmatogenous retinal detachments treated primarily by pars plana vitrectomy (PPV). MATERIAL, PATIENTS AND METHODS: 157 of 200 eyes (79%, 89 phakic (57%), 67 pseudophakic (43%), 1 aphakic) with rhegmatogenous retinal detachment were treated by primary pars plana vitrectomy. 132 cases (84%) completed 6 months, 131 (83%) 12 months, and 108 cases (69%) 24 months of follow-up. Selection of surgical methods was guided by recommendations from the SPR study. Different from these recommendations, phakic eyes were treated by primary PPV if the chance of successful scleral buckling was estimated to be < 90%. RESULTS: Initial retinal attachment was achieved in all eyes. In 4 eyes peripheral tractional detachment presented during silicon removal. A second surgical intervention for the treatment of re-detachment became necessary in 8 eyes during follow-up. The rate of permanent single-intervention (except silicon removal) attachment was 92.4%. Finally the retina was completely attached in all eyes. Visual acuity improved from a preoperative level of logMAR 1.01 to 0.48 at month 6, 0.40 at month 12 and 0.33 at month 24. Mean final visual acuity at month 24 was 0.32 in phakic eyes and 0.35 in pseudophakic eye (difference not significant). Significant differences in visual acuity were found in relation to the preoperative status of the fovea. CONCLUSIONS: The results of this case series, together with the previous published outcome of a cohort treated in the identical study period by scleral buckling, indicate that the outcome of retinal detachment surgery in an average cohort of patients can be expected to be much better than suggested by results of the SPR study.


Assuntos
Oftalmopatias Hereditárias/epidemiologia , Oftalmopatias Hereditárias/cirurgia , Complicações Pós-Operatórias/epidemiologia , Retina/cirurgia , Descolamento Retiniano/epidemiologia , Descolamento Retiniano/cirurgia , Transtornos da Visão/epidemiologia , Transtornos da Visão/prevenção & controle , Vitrectomia/estatística & dados numéricos , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Causalidade , Comorbidade , Oftalmopatias Hereditárias/diagnóstico , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Recuperação de Função Fisiológica , Retina/patologia , Descolamento Retiniano/diagnóstico , Estudos Retrospectivos , Medição de Risco , Suíça/epidemiologia , Resultado do Tratamento , Transtornos da Visão/diagnóstico , Acuidade Visual , Adulto Jovem
16.
J Fr Ophtalmol ; 36(6): 537-42, 2013 Jun.
Artigo em Francês | MEDLINE | ID: mdl-23618733

RESUMO

PURPOSE: To evaluate risk factors for failure of scleral buckling in rhegmatogenous retinal detachment (RRD) in an adult Moroccan population. METHODS: A retrospective study of 432 eyes of 422 patients undergoing scleral buckling (SB) for primary RRD between 2001 and 2009 was carried out. Statistical analysis of risk factors for failure was performed using binary logistic regression. RESULTS: Mean patient age was 43 ± 15 years, and 45.4% were myopic. The median recurrence was at 10 months. The final failure rate was 22.5%. Univariate analysis shows that significant risk factors for failure were extent of RRD ≥ 3 quadrants (P<0.001), advanced PVR (P<0.001) and worsening PVR postoperatively (P<0.001). In the multivariate model, the only significant risk factor for failure was the worsening postoperative PVR (P<0.001). CONCLUSIONS: Our findings suggest that worsening of PVR after surgery is the major risk factor for failure of SB in RRD. Thus, it is necessary to recognize the risk factors contributing to PVR and to plan the most appropriate, earliest and least traumatic surgical treatment of RRD.


Assuntos
Complicações Pós-Operatórias/etiologia , Descolamento Retiniano/cirurgia , Recurvamento da Esclera , Adulto , Estudos de Coortes , Diagnóstico Tardio/estatística & dados numéricos , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/epidemiologia , Oftalmopatias Hereditárias/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Marrocos/epidemiologia , Complicações Pós-Operatórias/epidemiologia , Descolamento Retiniano/diagnóstico , Descolamento Retiniano/epidemiologia , Estudos Retrospectivos , Fatores de Risco , Recurvamento da Esclera/métodos , Recurvamento da Esclera/reabilitação , Recurvamento da Esclera/estatística & dados numéricos , Falha de Tratamento
17.
Ophthalmic Epidemiol ; 20(1): 13-25, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23350551

RESUMO

PURPOSE: Inherited retinal dystrophies (IRDs) and inherited optic neuropathies (IONs) are rare diseases defined by specific clinical and molecular features. The relative prevalence of these conditions was determined in Southern France. METHODS: Patients recruited from a specialized outpatient clinic over a 21-year period underwent extensive clinical investigations and 107 genes were screened by polymerase chain reaction/sequencing. RESULTS: There were 1957 IRD cases (1481 families) distributed in 70% of pigmentary retinopathy cases (56% non-syndromic, 14% syndromic), 20% maculopathies and 7% stationary conditions. Patients with retinitis pigmentosa were the most frequent (47%) followed by Usher syndrome (10.8%). Among non-syndromic pigmentary retinopathy patients, 84% had rod-cone dystrophy, 8% cone-rod dystrophy and 5% Leber congenital amaurosis. Macular dystrophies were encountered in 398 cases (30% had Stargardt disease and 11% had Best disease). There were 184 ION cases (127 families) distributed in 51% with dominant optic neuropathies, 33% with recessive/sporadic forms and 16% with Leber hereditary optic neuropathy. Positive molecular results were obtained in 417/609 families with IRDs (68.5%) and in 27/58 with IONs (46.5%). The sequencing of 5 genes (ABCA4, USH2A, MYO7A, RPGR and PRPH2) provided a positive molecular result in 48% of 417 families with IRDs. Except for autosomal retinitis pigmentosa, in which less than half the families had positive molecular results, about 75% of families with other forms of retinal conditions had a positive molecular diagnosis. CONCLUSIONS: Although gene discovery considerably improved molecular diagnosis in many subgroups of IRDs and IONs, retinitis pigmentosa, accounting for almost half of IRDs, remains only partly molecularly defined.


Assuntos
Oftalmopatias Hereditárias/epidemiologia , Doenças do Nervo Óptico/epidemiologia , Distrofias Retinianas/epidemiologia , Transportadores de Cassetes de Ligação de ATP/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Pré-Escolar , Análise Mutacional de DNA , Proteínas da Matriz Extracelular/genética , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Proteínas do Olho/genética , Feminino , França/epidemiologia , Humanos , Lactente , Proteínas de Filamentos Intermediários/genética , Masculino , Glicoproteínas de Membrana/genética , Pessoa de Meia-Idade , Técnicas de Diagnóstico Molecular , Mutação , Miosina VIIa , Miosinas/genética , Proteínas do Tecido Nervoso/genética , Doenças do Nervo Óptico/diagnóstico , Doenças do Nervo Óptico/genética , Periferinas , Reação em Cadeia da Polimerase , Distrofias Retinianas/diagnóstico , Distrofias Retinianas/genética , Adulto Jovem
18.
Neuromuscul Disord ; 23(2): 160-4, 2013 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23127960

RESUMO

In 1977 Wijngaarden et al. reported a Dutch family with a congenital myopathy characterized by external ophthalmoplegia and a remarkable histological feature, focal loss of cross-striations. A small number of other families with similar clinical and pathological features led to the consideration of this congenital myopathy as a distinct entity. Here we present more than 30years of follow-up from the Dutch family and report recently identified compound heterozygous mutations in the skeletal muscle ryanodine receptor (RYR1) gene, c.10627-2A>G and p.Arg3539His (c.10616G>A). Focal loss of cross-striations on muscle biopsy is another histopathological feature that should raise the possibility of RYR1 involvement.


Assuntos
Oftalmopatias Hereditárias/epidemiologia , Oftalmopatias Hereditárias/patologia , Fibrose/epidemiologia , Fibrose/patologia , Músculo Esquelético/patologia , Miotonia Congênita/epidemiologia , Miotonia Congênita/patologia , Transtornos da Motilidade Ocular/epidemiologia , Transtornos da Motilidade Ocular/patologia , Adulto , Biópsia , Comorbidade , Oftalmopatias Hereditárias/genética , Feminino , Fibrose/genética , Seguimentos , Heterozigoto , Humanos , Masculino , Mutação/genética , Miotonia Congênita/genética , Países Baixos , Transtornos da Motilidade Ocular/genética , Linhagem , Canal de Liberação de Cálcio do Receptor de Rianodina/genética
19.
Vet Clin North Am Food Anim Pract ; 26(3): 531-55, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-21056800

RESUMO

In the past 10 years, information about South American camelid anatomy, physiology, medicine, and surgery has increased exponentially, including information about the eye. Although trauma-related diseases are the most common eye problems for which camelids are presented to veterinarians, there have recently been many anecdotal reports and published case reports of camelids having ocular malignancies and potentially hereditary ocular abnormalities. The increased number of ocular diseases being reported may be because of increased recognition of camelid diseases or an increase in these diseases as a result of restricted gene pools as a consequence of inbreeding. As the popularity of camelids is steadily increasing, owners are becoming more knowledgeable about their animals, and there is more need for veterinarians who understand their ocular anatomy, physiology, disease susceptibility, and recommended treatments. This article provides the relevant information about the eye.


Assuntos
Camelídeos Americanos , Oftalmopatias Hereditárias/veterinária , Oftalmopatias/veterinária , Endogamia , Animais , Olho/anatomia & histologia , Anormalidades do Olho/veterinária , Oftalmopatias/epidemiologia , Oftalmopatias/genética , Oftalmopatias/prevenção & controle , Oftalmopatias Hereditárias/epidemiologia , Oftalmopatias Hereditárias/prevenção & controle , Fenômenos Fisiológicos Oculares
20.
Ophthalmic Epidemiol ; 16(4): 212-7, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19874141

RESUMO

PURPOSE: To determine the causes of severe visual impairment and blindness in children in schools for the blind in southern Karnataka state of India. METHOD: Children aged less than 16 years with a visual acuity of < 6/60 in the better eye, attending the residential schools for the blind were examined in 2005-2006, in the Karnataka state in the south of India. History taking, visual acuity estimation, external ocular examination, retinoscopy, and fundoscopy were done on all students. Refraction and low vision work-up done where indicated. The anatomical and etiological causes of severe visual impairment (< 6/60-3/60) and blindness (< 3/60 in the better eye) were classified using the World Health Organization's prevention of blindness programs' record system. RESULTS: A total of 1,179 students were examined, 891 of whom fulfilled the eligibility criteria. The major anatomical sites of visual loss were congenital anomalies (microphthalmos, anophthalmos) (321, 35.7%), corneal conditions (mainly scarring due to vitamin A deficiency, measles, trauma) (133, 14.9%), cataract or aphakia in 102 (11.4%), and retinal disorders (mainly dystrophies) in 177 children (19.9%). Nearly one-fourth of children were blind from conditions which could have been prevented or treated (27.8%), 87 of whom were referred for surgery. Low vision devices improved near acuity in 27 children (3%), and 43 (4.8%) benefited from refraction. CONCLUSIONS: Congenital anomalies, cataract, and retinal conditions account for most of the blindness in children.


Assuntos
Cegueira/epidemiologia , Pessoas com Deficiência Visual/estatística & dados numéricos , Adolescente , Cegueira/etiologia , Criança , Pré-Escolar , Oftalmopatias Hereditárias/complicações , Oftalmopatias Hereditárias/epidemiologia , Feminino , Humanos , Índia/epidemiologia , Lactente , Masculino , Prevalência , Baixa Visão/epidemiologia , Baixa Visão/etiologia , Acuidade Visual/fisiologia
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