RESUMO
Childhood glaucoma represents a heterogenous group of rare ocular conditions that may result in significant sight threatening complications related to elevated intraocular pressure (IOP). It can be classified as either primary or secondary and the latter may have systemic associations. This review will be based on the work of the childhood glaucoma research network (CGRN) and will focus on the diagnosis and management of the most common types of childhood glaucoma. These include primary congenital glaucoma (PCG) and juvenile open angle glaucoma (JOAG) as well as secondary causes of glaucoma associated with non-acquired ocular anomalies (Axenfeld-Rieger anomaly; Peters anomaly and Aniridia), glaucoma associated with systemic disease (Sturge Weber syndrome and Neurofibromatosis), those due to acquired conditions (Uveitic glaucoma, trauma and tumours) and importantly glaucoma following cataract surgery.
Assuntos
Anormalidades do Olho , Glaucoma de Ângulo Aberto , Glaucoma , Hidroftalmia , Anormalidades do Olho/complicações , Glaucoma/diagnóstico , Glaucoma/etiologia , Glaucoma/terapia , Glaucoma de Ângulo Aberto/diagnóstico , Humanos , Hidroftalmia/complicações , Pressão Intraocular , Doenças Raras/complicaçõesRESUMO
PURPOSE: Ocular anterior segment disorders (ASDs) are clinically and genetically heterogeneous, and genetic diagnosis often remains elusive. In this study, we demonstrate the value of a combined analysis protocol using phenotypic, genomic, and pedigree structure data to achieve a genetic conclusion. METHODS: We utilized a combination of chromosome microarray, exome sequencing, and genome sequencing with structural variant and trio analysis to investigate a cohort of 41 predominantly sporadic cases. RESULTS: We identified likely causative variants in 54% (22/41) of cases, including 51% (19/37) of sporadic cases and 75% (3/4) of cases initially referred as familial ASD. Two-thirds of sporadic cases were found to have heterozygous variants, which in most cases were de novo. Approximately one-third (7/22) of genetic diagnoses were found in rarely reported or recently identified ASD genes including PXDN, GJA8, COL4A1, ITPR1, CPAMD8, as well as the new phenotypic association of Axenfeld-Rieger anomaly with a homozygous ADAMTS17 variant. The remainder of the variants were in key ASD genes including FOXC1, PITX2, CYP1B1, FOXE3, and PAX6. CONCLUSIONS: We demonstrate the benefit of detailed phenotypic, genomic, variant, and segregation analysis to uncover some of the previously "hidden" heritable answers in several rarely reported and newly identified ocular ASD-related disease genes.
Assuntos
Anormalidades do Olho , Oftalmopatias Hereditárias , Proteínas ADAMTS , Segmento Anterior do Olho , Citocromo P-450 CYP1B1/genética , Anormalidades do Olho/diagnóstico , Anormalidades do Olho/genética , Oftalmopatias Hereditárias/diagnóstico , Oftalmopatias Hereditárias/genética , Fatores de Transcrição Forkhead/genética , Humanos , Mutação , LinhagemAssuntos
Corpo Ciliar , Esclerostomia , Criança , Humanos , Lactente , Injeções Intravítreas , Esclera , TransiluminaçãoRESUMO
Purpose: Secondary glaucoma following childhood cataract surgery remains the most common complication in the paediatric population. This study aimed to determine the incidence, time to progression and risk factors associated with the development of secondary glaucoma following childhood cataract surgery in a paediatric population. Outcome measures were the detection of secondary glaucoma, postoperative time frame to development of glaucoma and risk factors in its development. Patients and Methods: A retrospective case series was conducted between 2003 and 2017 at a tertiary children's hospital in Sydney. The patient population included those 16 years or less of age who underwent congenital cataract extraction, with or without an intraocular lens implantation and who had been followed up for a minimum of six months following surgery. Patients were excluded if they had cataract aetiology other than congenital idiopathic cataract. Multivariate Cox Regression analysis was used to determine relevant risk factors. Results: A total of 320 eyes in 216 patients were included in the study. Secondary glaucoma developed in 11.9% of eyes. In those that developed secondary glaucoma, the average time to onset from surgery was 3.2 years (median 2.75 years). The mean age of diagnosis of secondary glaucoma was 4.58 years (median 3.5 years, range 2.5 months to 13.23 years). Microcornea was the only adverse characteristic significantly associated with an increased risk of secondary glaucoma (HR 6.30, p 0.003). Conclusion: Despite modern surgical techniques, glaucoma remains a significant long-term sequela in children following cataract surgery.
RESUMO
Two cases of blepharochalasis were studied. In Case 1, a 16-year-old male presented with the history and clinical features of blepharochalasis. A positive tissue biopsy for matrix metalloproteinases suggested a benefit from treatment with doxycycline. The patient remained disease-free for 18 months following commencement of doxycycline. In Case 2, a 21-year-old male with a 5-month history of swelling affecting his upper eyelids was diagnosed with blepharochalasis. He received an 8-month course of doxycycline and remained symptom-free on review 2 months after treatment cessation. While the pathogenesis of blepharochalasis has remained uncertain, an immune mechanism has been suspected. The presence of matrix metalloproteinases in the tissue biopsy of our first patient supports such an immune mechanism. As doxycycline inhibits matrix metalloproteinase activity, it may provide an effective and well-tolerated treatment alternative for cases of blepharochalasis for which surgery has previously been the only treatment option.
Assuntos
Doxiciclina/uso terapêutico , Inibidores Enzimáticos/uso terapêutico , Doenças Palpebrais/tratamento farmacológico , Inibidores de Metaloproteinases de Matriz , Adolescente , Edema/tratamento farmacológico , Edema/enzimologia , Doenças Palpebrais/enzimologia , Humanos , Masculino , Resultado do Tratamento , Adulto JovemRESUMO
BACKGROUND/PURPOSE: To report the largest case series to date of uveitis occurring in association with immunomodulatory therapy for malignant melanoma. METHODS: A retrospective multicenter case review. Twenty-two patients with uveitis occurring in association with either immunotherapy or targeted immune therapy for malignant melanoma were identified. RESULTS: Of 22 patients, 11 had anterior uveitis in isolation. The remainder showed a variety of clinical features including panuveitis, ocular hypotony, papillitis, cystoid macular edema, and melanoma-associated retinopathy. Most patients responded well to treatment. CONCLUSION: We report the largest case series to date of patients with uveitis secondary to drug treatment for malignant melanoma. These cases are likely to increase in number in the future as newer immunomodulatory therapies for cancers are developed and the indications for these drugs increase. A dilemma arises when patients respond well to these drugs but develop vision-threatening side effects.
Assuntos
Imunoterapia , Melanoma , Uveíte , Humanos , Imunoterapia/efeitos adversos , Melanoma/terapia , Estudos Retrospectivos , Uveíte/etiologiaRESUMO
PRECIS: Glaucoma associated with Sturge-Weber syndrome (SWS) often requires surgical intervention. Our study shows that trabeculectomy is efficacious in treating this condition. PURPOSE: The purpose of this study was to describe the surgical outcomes of glaucoma associated with SWS in children presenting to the tertiary Paediatric Ophthalmology Department at The Children's Hospital at Westmead. MATERIALS AND METHODS: A retrospective study of patients with SWS referred to the Department of Ophthalmology at The Children's Hospital at Westmead between 2003 and 2016 with at least 2 years of follow-up were identified, and information was collected from the clinical notes of all subjects. RESULTS: A total of 27 patients with SWS were evaluated for glaucoma in which 8 were excluded due to inadequate follow-up. In total, 19 patients with SWS were included in this study in which glaucoma was diagnosed in 15 patients and 19 eyes, of which 13 eyes required glaucoma surgery. A total of 21 surgical procedures were performed with a median follow-up of 85 months. A primary trabeculotomy was performed in 5 eyes of which 4 required re-do trabeculotomy, and 3 of these eyes underwent a Baerveldt tube (BVT) shunt as a third procedure. One eye with a primary trabeculotomy underwent a BVT as a secondary procedure. A BVT was inserted in a total of 6 eyes in which it was a primary procedure in 2 eyes. Of the 6 eyes undergoing a BVT insertion, 5 achieved success (2 complete and 3 qualified), and 1 failed. One case underwent intraluminal stent removal. Six eyes underwent a primary trabeculectomy and needed no further surgical intervention. In the trabeculectomy group, 4 eyes achieved complete success and 2 eyes achieved qualified success. CONCLUSIONS: Glaucoma affects a significant proportion of patients with SWS and is associated with the presence of an ipsilateral port-wine stain in most cases. In our study, trabeculectomy was the most efficacious procedure for controlling intraocular pressure and reducing the burden of ongoing treatment in SWS-associated glaucoma.
Assuntos
Implantes para Drenagem de Glaucoma , Glaucoma/cirurgia , Síndrome de Sturge-Weber/complicações , Trabeculectomia/métodos , Criança , Pré-Escolar , Feminino , Glaucoma/etiologia , Glaucoma/fisiopatologia , Hospitais Pediátricos , Humanos , Lactente , Pressão Intraocular/fisiologia , Masculino , Implantação de Prótese , Encaminhamento e Consulta , Reoperação , Estudos Retrospectivos , Tonometria Ocular , Resultado do Tratamento , Acuidade Visual/fisiologiaRESUMO
Low intraocular pressure and hypotony secondary to overfiltration is a recognized complication after trabeculectomy, particularly when augmented with antimetabolites such as 5-fluorouracil and mitomycin C. The relatively recent introduction of minimally invasive glaucoma surgery such as the ab interno XEN 45 (Allergan, Ireland) subconjunctival gel implant has heralded a new era of glaucoma drainage surgery where postoperative complications may be less and surgical recovery quicker. However, any effective glaucoma filtering procedure will always carry the risk of inducing hypotony. We describe the case of an 84-year-old white gentleman who underwent right eye XEN implantation for refractory primary open-angle glaucoma who subsequently developed persistent hypotony secondary to an overfiltering bleb. The complication was successfully treated with a modified transconjunctival bleb compression suture technique. To our knowledge, this has not been previously described in the literature and may help the glaucoma specialist deal effectively and relatively noninvasively with this rare but potentially challenging minimally invasive glaucoma surgery complication.
Assuntos
Túnica Conjuntiva/cirurgia , Implantes para Drenagem de Glaucoma/efeitos adversos , Glaucoma de Ângulo Aberto/cirurgia , Hipotensão Ocular/cirurgia , Técnicas de Sutura , Idoso de 80 Anos ou mais , Humanos , Pressão Intraocular/fisiologia , Masculino , Hipotensão Ocular/etiologia , Hipotensão Ocular/fisiopatologia , Complicações Pós-Operatórias , Suturas , Tonometria Ocular , Acuidade Visual/fisiologiaRESUMO
PURPOSE: The aim of this study was to compare the results of deep sclerectomy (DS) and combined deep sclerectomy with phacoemulsification (phaco-DS) performed by clinical fellows with those by an experienced glaucoma surgeon and DS trainer. PATIENTS AND METHODS: This is a retrospective nonrandomized study of 266 eyes of 226 consecutive patients who had DS or phaco-DS between March 2014 and December 2016 which were included from a database of all glaucoma surgery performed in our department. A minimum of 9 months follow-up was required. The cases were recorded as to whether a fellow or consultant performed the entire procedure. Overall, 114 surgeries were performed by the consultant and 164 surgeries were performed by the fellow, in which 91 cases received no assistance from the consultant. Intraocular pressure (IOP) success criteria were: (A) IOP<22 mm Hg and/or 20% decrease from baseline off any glaucoma medications and (B) IOP<16 mm Hg and/or 30% drop from baseline off any glaucoma medications. RESULTS: No statistically significant difference was noted by any criteria (P<0.05) between the 2 groups. The Kaplan-Meir IOP success rates at 2 years with criteria B (IOP<16 mm Hg without medications) were 64% for consultant, 76% for independent surgeries done by a fellow and 72% for surgeries with assistance from the consultant trainer (P=0.15). There were no significant differences between measured IOPs at any time after surgery. Intraoperative perforation of trabeculo-Descemet membrane was noted in 4 cases (3.5%) done by the consultant and 12 cases (7.3%) performed by fellows (Fisher exact P=0.19). CONCLUSIONS: IOP outcomes of DS and phaco-DS were not adversely affected if fellows performed surgery, whether under supervision or independently.
Assuntos
Competência Clínica , Glaucoma/cirurgia , Esclerostomia/educação , Esclerostomia/métodos , Estudantes de Medicina , Cirurgiões , Idoso , Idoso de 80 Anos ou mais , Terapia Combinada , Feminino , Glaucoma/epidemiologia , Humanos , Internato e Residência/normas , Pressão Intraocular , Curva de Aprendizado , Masculino , Pessoa de Meia-Idade , Facoemulsificação/efeitos adversos , Facoemulsificação/educação , Facoemulsificação/métodos , Estudos Retrospectivos , Esclera/cirurgia , Esclerostomia/efeitos adversos , Estudantes de Medicina/estatística & dados numéricos , Cirurgiões/educação , Cirurgiões/normas , Tonometria Ocular , Resultado do Tratamento , Acuidade VisualRESUMO
Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder affecting 1 in 3000 births. This familial tumor predisposition syndrome is diagnosed clinically and affects the skin, bones, and nervous system. Malignant tumors can arise in childhood or adulthood and are the most common cause of mortality in this population. Early diagnosis and management led by a multidisciplinary team remains the standard of care, particularly in the management of optic pathway glioma. Emerging concepts in the genetic patterns of this condition have led to the introduction of new treatment modalities that target the mitogen-activated protein kinase and the mammalian target of rapamycin pathways. In this review, the role of the ophthalmologist and approach to screening for optic pathway glioma are outlined based on previous recommendations. Updates on choroidal involvement, as a diagnostic criterion, will also be discussed, further highlighting the pivotal role of the ophthalmologist in the diagnosis and management of this complex condition.
Assuntos
Corioide/patologia , Neurofibromatose 1/patologia , Neurofibromatose 1/terapia , Glioma do Nervo Óptico/terapia , Antineoplásicos/uso terapêutico , Humanos , Programas de Rastreamento/métodos , Síndromes Neurocutâneas , Neurofibromatose 1/diagnóstico , Neurofibromatose 1/genética , Neurofibromina 1/genética , Procedimentos Cirúrgicos Oftalmológicos , Glioma do Nervo Óptico/patologia , Inibidores de Proteínas Quinases/uso terapêuticoRESUMO
Progressive supranuclear palsy (PSP) and Parkinson's disease (PD) differ in their response to dopaminergic replacement therapies, despite having a similar degree of neuronal degeneration in the dopaminergic substantia nigra. We observed more widespread dopamine neuron loss in the extranigral A10 midbrain cell groups in PSP compared with PD. These cell groups innervate subcortical and cortical regions and may be required for adequate response to levodopa therapy.
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Dopamina/deficiência , Degeneração Neural/metabolismo , Neurônios/metabolismo , Neurônios/patologia , Substância Negra/metabolismo , Substância Negra/patologia , Paralisia Supranuclear Progressiva/metabolismo , Paralisia Supranuclear Progressiva/patologia , Idoso , Progressão da Doença , Dopamina/metabolismo , Agonistas de Dopamina/uso terapêutico , Feminino , Humanos , Levodopa/uso terapêutico , Masculino , Paralisia Supranuclear Progressiva/tratamento farmacológicoAssuntos
Arterite de Células Gigantes/complicações , Arterite de Células Gigantes/diagnóstico , Doença Arterial Periférica/complicações , Doença Arterial Periférica/diagnóstico , Dermatoses do Couro Cabeludo/etiologia , Dermatoses do Couro Cabeludo/patologia , Couro Cabeludo/patologia , Idoso de 80 Anos ou mais , Diagnóstico Diferencial , Feminino , Humanos , Necrose , Artérias Temporais/anormalidadesRESUMO
AIM: To report a case of metastatic small-cell neuroendocrine carcinoma presenting as an isolated choroidal mass and initially misdiagnosed as a circumscribed choroidal hemangioma. METHODS: The clinical history, fundus findings, imaging, cytology and immunohistochemical features are described. RESULTS: An otherwise healthy 66-year-old man was referred for a left nasal scotoma and a diagnosis of circumscribed choroidal hemangioma. Cytology showed cohesive clusters of small-to-intermediate malignant cells. The atypical cells stained positively for chromogranin, thyroid transcription factor-1 and synaptophysin consistent with small-cell neuroendocrine carcinoma. CONCLUSION: Small-cell neuroendocrine carcinoma metastatic to the choroid is extremely rare; however, it is particularly aggressive and should be included in the differential diagnosis of isolated choroidal lesions, even in otherwise healthy patients.
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PURPOSE: To evaluate the patterns of acute and recurrent acute anterior uveitis (AAU) in a metropolitan tertiary referral center. METHODS: A retrospective medical record review of a total of 241 patients with AAU presenting to Sydney Eye Hospital between June 2009 and June 2011 was performed. Patients who underwent typing for the HLA-B27 antigen were included in this study. Ninety-five patients were HLA-B27-positive and 146 were HLA-B27-negative. RESULTS: Seronegative spondyloarthropathy (n = 26, 11%) was the most common systemic disease association in the HLA-B27 positive patients. Posterior synechiae was the most common complication. Complications of cataract, ocular hypertension, secondary glaucoma, and cystoid macular edema were more common in HLA-B27-negative patients with a recurrent disease course. The most common newly diagnosed systemic disease was sarcoid (n = 7), followed by ankylosing spondylitis (n = 4), tuberculosis (n = 2), and syphilis (n = 2). CONCLUSIONS: This case series emphasizes the key role of the ophthalmologist in identifying previously undiagnosed systemic diseases. It also highlights the importance of differentiating latent from active infection, particularly tuberculosis and syphilis, through directed investigations to assess the risk to the patient of reactivation with systemic treatment. This study adds further evidence to our understanding that HLA-B27-negative patients have a poor visual prognosis.