Lifting the White Walker’s curse–Management of Coats’ disease

Background: Coats’ disease, described by George Coats in the early 1900s, is an idiopathic unilateral retinal vascular abnormality with exudation occurring in young males. It is characterized by retinal telangiectasia with intraretinal or subretinal exudation. Coats’ disease is mostly diagnosed in the first to the second decade of life, with a common presentation of leukocoria. Younger patients have a more severe presentation and are associated with poor visual prognosis. Management of Coats’ disease varies from observation, cryotherapy with anti?VEGFs (Vascular Endothelial Growth Factor), and surgery to enucleation. The mode of treatment depends on the age of presentation, the severity of the disease, and the stage of the disease. Through this video, we describe the clinical features, pathology, and surgical management of a 2?year?old child with grade 3B of Coats’ disease. Purpose: To demonstrate successful surgical management of grade 3B of Coats’ disease in a 2?year?old boy. Synopsis: Coats’ disease mostly presents with a diagnostic dilemma due to its varied presentation. Early detection and treatment are the keys to salvaging the eye as well as the vision, hence, avoiding dreadful complications such as neovascular glaucoma or phthisis bulbi. We demonstrate successful surgical management of a child who presented with grade 3B of Coats’ disease. Highlights: Through this video, we aim to describe the clinical features, pathology, and surgical management of a 2?year?old child with grade 3B of Coats’ disease. Combination of external drainage with vitrectomy, challenges faced, and the importance of visual rehabilitation postoperatively

Red reflex test at the maternity hospital: results from a tertiary hospital and variables associated with inconclusive test results / Teste do reflexo vermelho na maternidade: resultados de um hospital terciário evariáveis associadas a um teste duvidoso

Abstract Objectives: Describe the results of the red reflex test in full-term newborns, as well as identify factors associated with red reflex test outcome and compare hospital length of stay between patients with inconclusive and normal red reflex test results. Methods: Descriptive cross-sectional study of the results of the red reflex test performed in a tertiary hospital maternity unit between 2014 and 2018. A nested case-control study was also performed to search for anthropometric, gestational, and neonatal variables associated with the outcome of the red reflex test. Results: There were121 identified cases of inconclusive red reflex test in 11,833 newborns. Sixteen alterations were confirmed, four considered severe: two cases of congenital glaucoma, one of cataract, and one of coloboma. Mean birth weight (p = 0.04), length (p = 0.03), and head circumference (p = 0.02) were lower in patients with inconclusive red reflex test; however without a relevant effect size (d = −0.21, −0.22, and −0.25, respectively).The proportion of white, mixed-race, and black patients was significantly different between the groups (p < 0.001), with a higher chance of inconclusive results in mixed-race (OR = 2.22) and black (OR = 3.37) patients when compared to whites. An inconclusive red reflex test led to an increase in hospital length of stay from 62 to 82 hours (p < 0.001). Conclusions: The red reflex test was able to identify four severe alterations in 11,833 newborns (0.03%). In the 121 newborns in which the red reflex test was classified as inconclusive, there was a 20-hour increase in the hospital length of stay, but a severe alteration was confirmed in only 3.3% of them. Differences in red reflex between white, mixed-race, and black patients should be considered.

Resumo Objetivos: Descrever os resultados do teste do reflexo vermelho em recém-nascidos a termo. Identificar fatores associados ao resultado do teste do reflexo vermelho e comparar o tempo de internação entre pacientes com teste do reflexo vermelho duvidoso e normal. Métodos: Estudo transversal descritivo dos resultados do teste do reflexo vermelho feito em maternidade de hospital terciário entre 2014 e 2018. Foi ainda feito estudo de caso-controle aninhado para pesquisa de variáveis antropométricas, gestacionais e neonatais associadas ao resultado do teste do reflexo vermelho. Resultados: Foram identificados 121 casos de teste do reflexo vermelho duvidoso em 11.833 recém-nascidos. Foram confirmadas 16 alterações, 4 consideradas graves: 2 casos de glaucoma congênito, um de catarata e um de coloboma. As médias de peso de nascimento (p = 0,04), comprimento (p = 0,03) e perímetro cefálico (p = 0,02) foram menores nos pacientes com teste do reflexo vermelho duvidoso, entretanto sem um tamanho de efeito relevante (d = -0,21; -0,22 e -0,25; respectivamente). A proporção de pacientes brancos, pardos e negros foi estatisticamente diferente entre os grupos (p < 0,001), com maior chance de resultado duvidoso para pardos (OR = 2,22) e negros (OR = 3,37) em comparação a brancos. O teste do reflexo vermelho duvidoso levou a um aumento no tempo de internação de 62 para 82 horas (p < 0,001). Conclusões: O teste do reflexo vermelho foi capaz de identificar 4 alterações graves em 11.833 recém-nascidos (0,03%). Nos 121 recém-nascidos em que o teste do reflexo vermelho foi classificado como duvidoso, houve aumento de 20 horas no tempo de internação hospitalar, porém se confirmou alteração grave em apenas 3,3% deles. Diferenças no reflexo vermelho entre brancos, pardos e negros devem ser consideradas.

Coats' disease - disease of the eye rarely encountered by pathologists

Coats' Disease is an idiopathic condition of the eye affecting young children although it can be seen in adults. Most patients present early in life with unilateral decreased vision, strabismus or leukocoria. The most important differential diagnosis is unilateral retinoblastoma. In this study we report a case of coat's disease in an young girl, and evaluate histopathological and clinical findings.

Alterações detectadas pelo teste do reflexo vermelho / Ocular findings by using red-reflex testing

Objetivo: A leucocoria é a presença da pupila branca e deve ser investigada e diagnosticada o mais precoce possível. A realização do Teste do Reflexo Vermelho, ao nascimento, permite a triagem de patologias importantes como a catarata congênita e o retinoblastoma. Este estudo tem como objetivo avaliar a prevalência de alterações oculares diagnosticada através do teste do reflexo vermelho em pacientes nascidos em uma maternidade do sul do Brasil. Métodos: Realizado estudo retrospectivo, transversal através da análise de prontuários no período de agosto de 2007 a maio 2011. Foram avaliados 10135 pacientes recém nascidos, antes da alta da maternidade. Todos os pacientes realizaram o teste do reflexo vermelho. Foi considerado alterado o teste em que o reflexo vermelho não esteve presente. Resultados: Foram detectados 4 pacientes com catarata congênita (prevalência de 4/10.000). Também foram observados um caso de coloboma de iris e um caso de albinismo ocular. Conclusão: O estudo concluiu que a prevalência das alterações encontradas corroboram com outros estudos da literatura.

Objetive: Leukocoria is the presence of the white pupil and should be investigated and diagnosed as early as possible . The Red Reflex Test should be done at birth because it allows the screening of important diseases such as congenital cataract and retinoblastoma. This study aims to evaluate the prevalence of ocular abnormalities using the red reflex test in patients born in a maternity hospital in southern Brazil. Methods: Retrospective, transversal study through analysis of medical records from August 2007 to May 2011. We analysed 10135 medical records. All newborn patients were submitted to Red-Reflex examination before leaving the hospital. The testing was considered abnormal when the red reflex was not present. Results: During the period of the study, congenital cataract was detected in 4 patients (prevalence of 4/10.000). We were also observed 1 case of coloboma of iris and 1 case of ocular albinism. Conclusions: The study concluded that prevalence of ocular findings corroborate with other studies in the literature.

Computed tomography findings of retinoblastoma patients at Cipto Mangunkusumo Hospital Jakarta.

Aim As data of CT findings for retinoblatoma in Indonesia is not yet available, this study aimed to determine patient distribution and to describe CT fi ndings of RB patients at Cipto Mangunkusumo Hospital. Methods From April 2004 to August 2007, CT scans were performed on 64 new patients of RB with clinical fi ndings: leukocoria (19 patients), leukocoria with proptosis (41 patients), buphthalmus (2 patients) and red eyes (2 patients). The CT scan was performed using single slice CT scan and multislice CT scan with axial and coronal section. The cases were categorized into 3 groups: grade I: tumor confi ned to the globe, grade II: tumor extended to orbital soft tissue or involved the optic nerve, and grade III: tumor extended beyond the orbit or intracranial space. The CT features were evaluated in each group for the presence of calcifi cation, contrast enhancement and lateralization. Results Sixty four patients (30 females and 34 males) were evaluated. Age range: 3 months up to 9 years old; bilateral 20 patients, unilateral 44 patients. Six patients of 19 patients with clinical fi nding leukocoria were included in group I, and the remaining were included in group II. Twenty seven patients of 41 patients with proptotic eyes were included in group II, and the remaining were included in group III. Patients with clinical fi nding buphthalmus and red eyes were included in group II. All of the group I tumors (6 patients) showed calcification and enhancement. In group II (44 patients), calcification was detected in 41 patients, and there was no evidence of contrast enhancement in 6 patients. Group III (14 patients): no calcifi cation in 2 patients, all of the tumors showed enhancement. Conclusion Our study showed calcification in 92% of RB. Calcification was not a favorable prognostic sign, because calcification was detected in almost all of the extraocular and intracranial tumors. Tumor enhancement was not correlated with extra ocular tumor extension. The fi nding of leukocoria without proptosis could not exclude the presence of extraocular tumor extension. Suspicious intracranial invasion should be considered in proptotic RB patient. Most retinoblastoma cases in Indonesia are diagnosed at advanced stage, so that the objective of the therapy is life saving rather than visual salvation.

Bases embriogênicas da persistência dos sistemas retiniano e hialoide embrionários / Embryogenic foundations of the persistence of the embryonic retinal and hyaloid systems

Os autores apresentam o relato de quatro casos de persistência completa do sistema retiniano e hialoide embrionários (PCSRHE), discutem sua patogenia baseados na embriogênese comparada procuram esclarecer os problemas que surgem no diagnóstico diferencial nos casos de leucocoria e sugerem o abandono da designação de persistência do vítreo primário (VP) hiperplásico. As razões para esta última proposta são as seguintes: 1) Não é só o VP que persiste, mas, também a retina embrionária, e a vasculatura hialoide com a haste do nervo óptico, ou restos desses elementos. 2) A palavra hiperplasia tem significado restrito em patologia, pois compreende somente os processos proliferativos não tumorais das células. Ora, tanto o vítreo primário como o secundário, definitivo do adulto, têm poucas células, as quais não aparecem como participantes da patogenia; além disso, o VP, nos casos de persistência completa, é escasso, portanto, hipoplásico, sendo um contrassenso a expressão vítreo primário hiperplásico.

The authors report 4 cases of Complete Persistence of the Embryonic Retinal and Hyaloid Systems (CPERHS), discuss their pathogeny based on compared embryogenesis, and attempt to clarify the issues that come forth in the differential diagnosis in cases of leukocoria, suggesting that the designation of Persistent Hyperplastic Primary Vitreous (PHPV) should be abandoned for the following reasons: 1) It’s not only the Primary Vitreous (PV) which persists but also the embryonic retina as well as the hyaloid vasculature with the optic nerve stalk, or the remains of these structures. 2) The term hyperplasia has a restricted meaning in Pathology as it encompasses only nontumoral processes of cell proliferation. However, both the primary and the secondary vitreous have few cells, which do not appear as participants of the pathogeny; moreover, the PV in the cases of complete persistence is scarce and therefore hypoplastic, the designation Hyperplastic Primary Vitreous being nonsensical.

Clinical Characteristics of the Retinoblastoma Diagnosed before One Year Old

To evaluate the clinical characteristics of retinoblastoma diagnosed before one year old. 19 children with retinoblastoma were observed with clinical records, retrospectively. Thirteen patients had unilateral retinoblastoma. and 6 patients had bilateral retinoblastoma. The mean age at diagnosis was 6.5 months. Patients of bilateral retinoblastoma were younger than those of unilateral retinoblastoma. Sixteen patients had leukocoria. No patients had a known family history. Under Reese-Ellsworth retinoblastoma classification system, 13 eyes(52%) were initially seen with group 4,5 tumors, 16 eyes(64%) were treated with group 4,5 tumors. Eight eyes(32%) had extraocular local metastasis. No eye had distant metastasis. Seventeen eyes(68%) were treated with enucleation or orbital exentration. Four eyes required additional treatment because of 2 eyes for recurrence and 2 eyes for new tumor. For a mean of 31.6 months, 2 children died, but there was no evidence of distant metastasis. These results show the retinoblastoma diagnosed before one year old tend to have bilateral tumor and to be more advanced, therefore the vigorous efforts for diagnosis and treatment should be done.