Child ; Consensus ; Humans ; Infant ; Retinal Neoplasms/diagnosis* ; Retinoblastoma/diagnosis*

OBJECTIVETo screen out retinoblastoma (RB)-related serum tumor markers by measuring the levels of serum alpha fetoprotein (AFP), carcino-embryonic antigen (CEA), neuron-specific enolase (NSE), carbohydrate antigen 125 (CA125), carbohydrate antigen 153 (CA153), carbohydrate antigen 199 (CA199), and carbohydrate antigen 724 (CA724) in children with RB.

METHODSThe levels of seven serum tumor markers (AFP, CEA, NSE, CA125, CA153, CA199, and CA724) were determined in 20 children with RB and 20 healthy children (control) using a chemiluminescent immunoassay.

RESULTSThe serum levels and positive rates of NSE, CA153, and CA199 in the RB group were significantly higher than those in the control group (P<0.05). However, there were no significant differences in the levels of AFP, CEA, CA125, and CA724 between the two groups (P>0.05). NSE had the highest sensitivity, but a relatively low specificity for the diagnosis of RB. CA153 and CA199 had a relatively high specificity, but a relatively low sensitivity for the diagnosis of RB.

CONCLUSIONSThe serum levels and positive rates of NSE, CA153, and CA199 are high in children with RB. Combined measurement of these three serum tumor markers may have an important diagnostic value for RB.

Antigens, Tumor-Associated, Carbohydrate ; blood ; Biomarkers, Tumor ; blood ; CA-125 Antigen ; blood ; Child, Preschool ; Female ; Humans ; Infant ; Male ; Phosphopyruvate Hydratase ; blood ; Retinal Neoplasms ; blood ; diagnosis ; Retinoblastoma ; blood ; diagnosis

Retinoblastoma, the most common primary intraocular malignancy of childhood, usually presents in the first three years of life. Atypical presentation of retinoblastoma can masquerade as virtually any ocular or orbital pathology, which may lead to diagnostic dilemmas especially in the presence of other systemic diseases. We report a 20-month-old boy who was diagnosed with coronary aneurysm as a complication of Kawasaki disease, and presented with sudden left eye redness. His mother noticed the presence of white pupillary reflex three months earlier. Atypical acute ocular presentation secondary to Kawasaki disease was initially suspected, but the presence of multiple calcification and mild proptosis on imaging suggested characteristics of advanced retinoblastoma. Histopathological examination of the enucleated eye, which revealed a classical rosette pattern appearance, confirmed the diagnosis. Atypical presentations of retinoblastoma are usually associated with advanced disease. The presence of other systemic conditions further complicates the diagnosis. Early diagnosis is important to reduce the mortality and morbidity.
Coronary Aneurysm ; complications ; diagnosis ; Diagnosis, Differential ; Eye ; diagnostic imaging ; physiopathology ; Eye Diseases ; diagnosis ; Humans ; Infant ; Male ; Mucocutaneous Lymph Node Syndrome ; complications ; diagnosis ; Retinal Neoplasms ; complications ; diagnosis ; diagnostic imaging ; Retinoblastoma ; complications ; diagnosis ; diagnostic imaging ; Treatment Outcome ; Ultrasonography

Adult ; Carcinoma, Renal Cell ; diagnosis ; Cerebellar Neoplasms ; diagnosis ; Diagnosis, Differential ; Female ; Hemangioblastoma ; diagnosis ; Humans ; Kidney Diseases, Cystic ; diagnosis ; Kidney Neoplasms ; diagnosis ; Magnetic Resonance Imaging ; Neoplasms, Multiple Primary ; Pancreatic Cyst ; diagnosis ; Retinal Neoplasms ; diagnosis ; Tomography, X-Ray Computed ; von Hippel-Lindau Disease ; diagnosis

To describe the clinical and optical coherence tomography (OCT) features of a macular hole (MH) or its precursor lesion in patients treated with systemic antiestrogen agents. We reviewed the medical history of the patient, ophthalmic examination, and both fundus and OCT findings. Three female patients receiving antiestrogen therapy sought treatment for visual disturbance. All of the patients showed foveal cystic changes with outer retinal defect upon OCT. Visual improvement was achieved through surgery for the treatment of MH in two patients. Antiestrogen therapy may result in MH or its precursor lesion, in addition to perifoveal refractile deposits. OCT examination would be helpful for early detection in such cases.
Adult ; Breast Neoplasms/drug therapy/surgery ; Estrogen Antagonists/*adverse effects ; Female ; Humans ; Middle Aged ; Retinal Perforations/*chemically induced/diagnosis/surgery ; Tamoxifen/*adverse effects ; Vitrectomy

PURPOSE: To report a case of cancer-associated nummular loss of the retinal pigment epithelium. METHODS: A 47-year-old man with a history of hepatocellular carcinoma presented with three weeks of bilateral visual loss. His best-corrected visual acuity was 20/40 in each eye. He had multiple round confluent grayish-brown patches at the level of retinal pigment epithelium, and no pigmented choroidal lesions. Fluorescein angiography showed circular areas of transmission defect and indocyanine green angiography showed early hyperfluorescence, corresponding with the multiple round confluent patches. CONCLUSIONS: We report a case of visual paraneoplastic syndrome which showed nummular loss of the pigment epithelial cells which distinguishes the clinical component of BDUMP syndrome.
Carcinoma, Hepatocellular/*pathology ; Diagnosis, Differential ; Fatal Outcome ; Fluorescein Angiography ; Fundus Oculi ; Humans ; Liver Neoplasms/*pathology ; Male ; Middle Aged ; Paraneoplastic Syndromes/*diagnosis ; Pigment Epithelium of Eye/*pathology ; Retinal Diseases/*diagnosis ; Tomography, Optical Coherence

INTRODUCTIONRetinoblastoma is a very rare disease. There were 30 cases of retinoblastoma diagnosed and treated at National University Hospital (NUH).

MATERIALS AND METHODSA retrospective chart review was performed on the medical records of 30 patients who were diagnosed with retinoblastoma between 1995 and 2008 at the Department of Paediatrics, National University Hospital, Singapore.

RESULTSThe median age at diagnosis was 1.6 years (range, 0-5.9) with a median follow-up of 1.8 years (range, 0.1 to 11.6). The median time from presenting signs to the time of diagnosis was 5.2 months (range, 0-25.2). Common presenting signs of retinoblastoma were identified; the most common of which were leukocoria (50.0%), squinting (13.3%), poor vision (10.0%), strabismus (6.6%) and unknown (33.3%). Of the 30 patients, 10 were from Singapore whilst the other 20 patients were from the surrounding countries. Twelve patients had bilateral disease at the time of diagnosis, while 18 had unilateral disease. Staging information was available in 27 patients. Enucleation was performed in 25 of 30 patients. Radiation therapy was given in 3 patients in 1995 (bilateral disease), 2001 (bilateral disease) and 2003 (unilateral disease). At the time of analysis, 19 patients were alive with no evidence of disease. Overall 5-year survival for the cohort was 88.1% [95% confidence interval (CI), 88.0-100] and event-free survival for the whole cohort was 74.2% (95% CI, 55.8-92.6).

CONCLUSIONIn our limited experience, the importance of collaboration and standardisation of the staging system, raising awareness and education of primary healthcare providers and parents are strongly stressed.

Child ; Child, Preschool ; Confidence Intervals ; Eye Enucleation ; Female ; Humans ; Infant ; Infant, Newborn ; Male ; Pupil Disorders ; diagnosis ; epidemiology ; Retinal Neoplasms ; diagnosis ; epidemiology ; mortality ; surgery ; Retinoblastoma ; diagnosis ; epidemiology ; mortality ; surgery ; Retrospective Studies ; Singapore ; epidemiology ; Strabismus ; Survival Analysis ; Vision Disorders

No abstract available.
Angiogenesis Inhibitors/administration & dosage/adverse effects ; Bevacizumab/administration & dosage/*adverse effects ; Follow-Up Studies ; Hemangioma, Capillary/diagnosis/*drug therapy ; Humans ; Intravitreal Injections ; Male ; Photochemotherapy/*adverse effects ; Retina/*pathology ; Retinal Detachment/*chemically induced/diagnosis ; Retinal Neoplasms/diagnosis/*drug therapy ; Time Factors ; Young Adult

PURPOSE: Recent reports suggest the association of human papilloma virus (HPV) with retinoblastoma. This study was performed to elucidate whether HPV infection is related to retinoblastoma among Koreans. METHODS: A total of 54 cases diagnosed with retinoblastoma were enrolled from Seoul National University Children's Hospital and Seoul Metropolitan Government-Seoul National University Boramae Medical Center. Presence of human papilloma viral DNA was detected by in situ hybridization in formalin-fixed paraffin-embedded retinoblastoma tissues using both probes against high- and low risk HPV types. RESULTS: The mean age at diagnosis was 22.0 months (range, 1.1 to 98.0 months), and the mean age at enucleation was 27.8 months (range, 1.5 to 112.7 months) among the 54 patients with retinoblastoma. HPV was not detected in any of the retinoblastoma samples using either high risk or low risk HPV probes. CONCLUSIONS: Our study, being the first study in the Korean population, proposes that HPV infection may have no causal relationship with retinoblastoma in Koreans.
Child, Preschool ; DNA, Viral/*analysis ; Eye Infections, Viral/complications/diagnosis/*epidemiology ; Female ; Humans ; In Situ Hybridization ; Incidence ; Infant ; Male ; Papillomaviridae/*genetics ; Papillomavirus Infections/complications/diagnosis/*epidemiology ; Prevalence ; Prognosis ; Republic of Korea/epidemiology ; Retinal Neoplasms/complications/pathology/*virology ; Retinoblastoma/pathology/*virology

Familial adenomatous polyposis (FAP) is an autosomal dominant syndrome, typically characterized by multiple colorectal adenomas and increased incidence of colorectal carcinomas if left untreated. It is caused by germline mutations of the adenomatous polyposis coli (APC) gene, which has been mapped on chromosome 5q21, and is accompanied by various benign and malignant extracolonic manifestations. The prevalence of thyroid tumors developing in patients with FAP is about 1~2%, are associated with FAP and have certain characteristics; mean age of tumor diagnosis at less than 30 years of age, the pathology is the papillary histiotype in more than 90% of cases, including a so-called cribriform- morular pattern, and multifocality is a frequent feature. In a genetic analysis, thyroid cancer in FAP usually has a mutation in the 5-portion of exon 15 between 778 and 1309, on chromosome 5q21. Also, the ret/PTC (especially ret/PTC1 and ret/PTC3) and p53 genes are thought probably to be associated with thyroid cancer in FAP patients. A case of familial adenomatous polyposis, accompanied by thyroid papillary cancer, was experienced in a 29 year-old female. She had hundreds of adenomas throughout the entire colon and congenital hypertrophy of the retinal pigment epithelium (CHRPE). The pathological finding of thyroid cancer was revealed as a mixture of cribriform, trabecular and papillary patterns. In a genetic analysis, she and her brother had a germline mutation of the APC gene at codon 1309. In Korea, there has been no previous case of cribriform-morular pattern and familial genetic analysis in FAP associated with thyroid cancer. Therefore, this case is reported, with a review of the literature
Adenoma ; Adenomatous Polyposis Coli* ; Adult ; Codon ; Colon ; Colorectal Neoplasms ; Diagnosis ; Exons ; Female ; Genes, APC ; Genes, p53 ; Germ-Line Mutation ; Humans ; Hypertrophy ; Incidence ; Korea ; Pathology ; Prevalence ; Retinal Pigment Epithelium ; Siblings ; Thyroid Gland* ; Thyroid Neoplasms