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

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: To evaluate patterns of macular retinal ganglion cell (RGC) loss measured by spectral domain optical coherence tomography in patients with neurologic lesions mimicking glaucoma. METHODS: We evaluated four patients with neurological lesions who showed characteristic patterns of RGC loss, as determined by ganglion cell thickness (GCT) mapping. RESULTS: Case 1 was a 30-year-old man who had been treated with glaucoma medication. A left homonymous vertical pattern of RGC loss was observed in his GCT map and a past brain magnetic resonance imaging (MRI) revealed a hemorrhagic lesion around the right optic radiation. Case 2 was a 72-year-old man with a pituitary adenoma who had a binasal vertical pattern of RGC loss that corresponded with bitemporal hemianopsia. Case 3 was a 77-year-old man treated for suspected glaucoma. His GCT map showed a right inferior quadratic pattern of loss, indicating a right superior homonymous quadranopsia in his visual field (VF). His brain MRI revealed a left posterior cerebral artery territory infarct. Case 4 was a 38-year-old woman with an unreliable VF who was referred for suspected glaucoma. Her GCT map revealed a left homonymous vertical pattern of RGC loss, which may have been related to a previous head trauma. CONCLUSIONS: Evaluation of the patterns of macular RGC loss may be helpful in the differential diagnosis of RGC-related diseases, including glaucoma and neurologic lesions. When a patient's VF is unavailable, this method may be an effective tool for diagnosing and monitoring transneuronal retrograde degeneration-related structural changes.
Adult ; Aged ; Brain Injuries/diagnosis ; Cerebral Infarction/diagnosis ; Diagnosis, Differential ; Female ; Glaucoma/*diagnosis ; Hemianopsia/diagnosis ; Humans ; Magnetic Resonance Imaging ; Male ; Nerve Fibers/*pathology ; Nervous System Diseases/*diagnosis ; Pituitary Neoplasms/diagnosis ; Retinal Ganglion Cells/*pathology ; Retrospective Studies ; Tomography, Optical Coherence ; Tonometry, Ocular ; Visual Acuity ; Visual Field Tests ; Visual Fields

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

PURPOSE: To evaluate the efficacy of primary chemotherapy combined with local therapy in the treatment of retinoblastomas not treatable with a single therapeutic method. METHODS: We performed a retrospective chart review of 227 patients diagnosed with retinoblastoma. Sixty-five eyes in 52 patients had tumors not treatable with a single therapeutic method and received primary chemotherapy combined with local therapy as needed. RESULTS: Tumor control and eye salvage was achieved in 34 of the 65 eyes; the probability of ocular survival was 46.56% using the Kaplan-Meier method. Forty-three of the 65 eyes were group D or E tumors, in which tumor control and eye salvage was achieved in 16 eyes. Twenty eyes were treated with chemotherapy only, while 28 eyes received one additional modality of local therapy, and 17 eyes received two modalities of local therapy. Of the eyes treated with chemotherapy only, tumor control was achieved in 5 eyes. CONCLUSIONS: Primary chemotherapy combined with local therapy can be effective and safe in the treatment of retinoblastomas otherwise untreatable with other therapeutic methods, such as group D and E retinoblastomas. More vigorous treatment with more local therapeutic methods combined may yield even better results.
Antineoplastic Agents/*therapeutic use ; Child, Preschool ; Cryotherapy/*methods ; Diagnosis, Differential ; Female ; Follow-Up Studies ; Humans ; Hyperthermia, Induced/*methods ; Infant ; Infant, Newborn ; Laser Coagulation/*methods ; Male ; Ophthalmoscopy ; Retinal Neoplasms/diagnosis/physiopathology/*therapy ; Retinoblastoma/diagnosis/physiopathology/*therapy ; Retrospective Studies ; Tomography, X-Ray Computed ; Treatment Outcome ; *Visual Acuity

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

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

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

A 37-year-old female, who had received modified radical mastectomy for cancer of her right breast, presented with decreased visual acuity in the left eye after radiation therapy for the management of the metastasis to her right brain 14 months ago. After ocular examination, we diagnosed her as radiation retinopathy. At the time of the first visit, the corrected best visual acuity was 0.4 in the left eye, and fundus examination revealed cotton wool spots and cystoid macular edema (CME). The findings in the right eye were normal except for cotton wool spots in the superior major arch. Fluorescein angiography (FA) showed marked telangiectasia and microaneurysms in her left eye but tiny microaneurysms in her right eye. Subsequent optical coherent tomography (OCT) showed CME. We injected intravitreal triamcinolone acetonide (TA). Two weeks after treatment, the visual acuity was improved to 0.6 and the retinal thickness was decreased. Three months later, the visual acuity in the left eye was dropped to 0.3 due to the recurrence of CME, so we injected intravitreal TA again. Five months later, visual acuity was improved to 0.5 and OCT revealed the improvement of CME. The incidence of radiation retinopathy is higher in the side nearer to radiation, but careful radiation blocking is also required on the opposite side of irradiation site considering the possibility of radiation retinopathy and careful observation is required on both sides of the eyes when performing fundus examination.
Adult ; Brain Neoplasms/*radiotherapy/secondary ; Breast Neoplasms/pathology/radiotherapy/surgery ; Diagnosis, Differential ; Female ; Fluorescein Angiography ; Follow-Up Studies ; Fundus Oculi ; Glucocorticoids/administration & dosage ; Humans ; Radiation Injuries/diagnosis/drug therapy/*etiology ; Retina/pathology/*radiation effects ; Retinal Diseases/diagnosis/drug therapy/*etiology ; Tomography, Optical Coherence ; Triamcinolone Acetonide/administration & dosage