Presentation Of Retinoblastoma Research Articles

Retinoblastoma presenting with orbital cellulitis

To study the effectiveness of pre-enucleation steroids in reducing inflammation in patients with retinoblastoma presenting as orbital cellulitis. Medical records of consecutive retinoblastoma patients presenting at a single tertiary eye care center during a period of 3 years were retrospectively reviewed. For those who presented with orbital cellulitis, clinical, radiological, and histopathological variables were assessed. The effect of pre-enucleation steroids was noted in this group of patients. Of 260 retinoblastoma cases reviewed, 14 had retinoblastoma-associated cellulitis (5.39%). Of these 14 patients, 4 received neoadjuvant chemotherapy and were excluded from the series. Of the remaining 10 cases (mean age at presentation, 14.2 months; mean follow-up, 16.4 months), 9 presented with orbital cellulitis and were included in the study. Radiological imaging depicted intraocular tumors occupying 80% to 100% of the globe in each case. All patients underwent enucleation. Five children received pre-enucleation systemic steroids (mean, 5.4 days), which resulted in a prompt decrease in inflammation. Postenucleation chemotherapy was administered in 4 (6 cycles) and external beam radiation therapy in 1 patient with high-risk histopathological characteristics. Advanced necrotic retinoblastoma with anterior segment involvement may present as orbital cellulitis. Pre-enucleation systemic steroids can aid in the surgical management of these tumors.

Bilateral retinoblastoma in early infancy

Retinoblastoma is the most common primary intraocular malignancy of childhood. It is usually diagnosed before the age of 5 years. In spite of its early onset in most children, retinoblastoma is rarely diagnosed congenitally or even within the first 3 months of life. To report a case of retinoblastoma in early infancy. This was a case of the earliest presentation of retinoblastoma in a female child 20 days after birth. The presenting complaint was of leucokoria noticed by the mother 13 days after birth. The father of the child was also found to have a suspicious lesion of retinocytoma in one eye and regressed retinoblastoma in the other eye. For early diagnosis of the disease, awareness and knowledge about the modes of presentation of the disease are very important. Similarly, the ophthalmic examination of the parents and siblings with retinoblastoma should always be done to exclude the disease.

Spectrum of RB1 Mutations in Argentine Patients: 20-years Experience in the Molecular Diagnosis of Retinoblastoma

ABSTRACTBackground: Retinoblastoma is a hereditary cancer of childhood caused by mutations in the RB1 tumor suppressor gene. An early diagnosis is critical for survival and eye preservation, thus identification of RB1 mutations is important for unequivocal diagnosis of hereditary retinoblastoma and risk assessment in relatives.Methods: We studied 144 families for 20 years, performing methodological changes to improve detection of mutation. Segregation analysis of polymorphisms, MLPA, FISH and cytogenetic assays were used for detection of “at risk haplotypes” and large deletions. Small mutations were identified by heteroduplex/DNA sequencing.Results: At risk haplotypes were identified in 11 familial and 26 sporadic cases, being useful for detection of asymptomatic carriers, risk exclusion from relatives and uncovering RB1 recombinations. Ten large deletions (eight whole gene deletions) were identified in six bilateral/familial and four unilateral retinoblastoma cases. Small mutations were identified in 29 cases (four unilateral retinoblastoma patients), being the majority nonsense/frameshift mutations. Genotype-phenotype correlations confirm that the retinoblastoma presentation is related to the type of mutation, but some exceptions may occur and it is crucial to be considered for genetic counseling. Three families included second cousins with retinoblastoma carrying different haplotypes, which suggest independent mutation events.Conclusion: This study enabled us to obtain information about molecular and genetic features of patients with retinoblastoma in Argentina and correlate them to their phenotype.

Retinoblastoma in a young adult mimicking Coats' disease.

Retinoblastoma is the most common childhood primary intraocular malignancy, with the majority of cases being diagnosed before 5 years of age. Retinoblastoma in adults is extremely rare. Here, we report the case of a 20-year-old man who presented with a 3 year history of blurred vision in the right eye. Imaging did not reveal the typical presentation of retinoblastoma. After considering Coats' disease, a diagnosis of late-presenting retinoblastoma was made through cytological analysis. Diagnosis of retinoblastoma should be considered in the presence of uncertain mass lesions in the fundus of an adult.

Characteristics and clinical presentations of pediatric retinoblastoma in North-western Iran.

To report the characteristics and clinical presentations of retinoblastoma in a series of pediatric patients from Iran. In this retrospective study, profiles of pediatric patients with retinoblastoma archived in a referral eye hospital in north-west of Iran during 7 years (n=40 patients with 57 eyes) were reviewed. Demographics, as well as the laterality, clinical manifestations and the types of treatment were the major endpoints. The Student's t test, Mann-Whitney U-test, Chi-square or Fishers' Exact test was used for analysis where appropriate. There were 23 cases (57.7%) with unilateral and 17 cases (42.5%) with bilateral involvement. The male to female ratio was 1 to 1.4 with a mean admitting age of 24.0±11.3 (range: 5-62) months. The mean diagnosis delay was 7.4±9.6 months (range: 10 days to 13 months). The most common presenting sign was leukocoria (97.5%) followed by proptosis (7.5%), strabismus (7.5%), hyphema (5%), orbital cellulitis (5%) and glaucoma (2.5%). Enucleation was performed in 95.7% of the cases with unilateral involvement and at least one eye of the patients with bilateral disease. A second enucleation was performed in other 3 patients (17.6%) of the latter group. This is the first study evaluating a series of Iranian children with retinoblastoma.

Late Onset Retinoblastoma Presenting with Vitreous Haemorrhage

Our work describes the management of young patients who presents with vitreous haemorrhage. It is important to note that the causes differ significantly from adults with vitreous haemorrhage.A 16-year old patient presented with vitreous haemorrhage. B-scan ultrasonography showed hypodense elements in the retina. A vascularized gelatinous mass was revealed after vitrectomy. Later the patient developed white cysts in the anterior chamber and histological findings were indicative of a retinoblastoma. The patient was enucleated and the diagnosis of retinoblastoma was confirmed. Intraocular surgery in young people with unknown retinoblastoma enhances the risk of metastasis development, orbital recurrence and death. Unexplained vitreous haemorrhage can obscure the view of a tumour but ultrasonic findings of a retinal mass calls for further imaging e.g. through MRI. The case illustrates the importance of excluding intraocular malignancy and advises a limited use of surgery in the initial examination of vitreous haemorrhage in young people.

Clinical Presentation of Retinoblastoma in a Middle-income Country

The presenting features of retinoblastoma in developing countries and their correlation with disease stage and patient survival are poorly known and they may be useful as background information for planning early diagnosis initiatives. Therefore, we undertook a retrospective review of 508 patients (467 evaluable, 296 unilateral) treated in Argentina from 1988 to 2008. Patients presented at an older age than reported from high-income countries [mean age 24 mo (range, 0 to 165 mo), 31 mo for unilateral (range, 0 to 165 mo), and 13.3 mo (range, 0 to 62 mo) for bilateral disease]. Leukocoria was the most common presenting sign (n=402, 86%). Strabismus was the only complaint in 25 (5.3%) patients. Forty-two patients (9%) presented with an enlarged eyeball and 37 (7.9%) with a red eye. Retinoblastoma was diagnosed in 22 (4.7%) asymptomatic children. These patients and those with strabismus alone were significantly younger and had a significantly better survival. Children presenting with enlarged eyeballs were significantly older and had significantly lower survival. In multivariable analysis older age and presentation with enlarged eyeballs were independently associated to advanced stage and mortality (P<0.001). Retinoblastoma is diagnosed in later stages in our setting and presentation with eye enlargement and increasing age at diagnosis correlate with worse outcome.

Retinoblastoma Presenting in a Child with Hypomelanosis of Ito

Purpose:To describe a case of a child with a known history of pigmentary mosaicism suggestive of Hypomelanosis of Ito presenting with unilateral leukocoria, who was ultimately diagnosed with retinoblastoma.Methods:A report of a 16-month-old girl with pigmentary mosaicism and unilateral retinoblastoma.Results:A previously healthy 16-month-old girl with a diagnosis of a mosaic hypopigmentation at the age of 6 months based on a linear and whorled pattern of skin hypopigmentation along the lines of Blaschko, presented with unilateral strabismus, leukocoria, retinal detachment, and sub-retinal exudation. Hypomelanosis of Ito and other similar neurocutaneous syndromes are known to be associated with abnormal retinal pigmentation, vascular abnormalities, and retinal detachment. Examination included a fluorescein angiogram, ultrasonography, and an MRI of the brain and orbits that demonstrated features consistent with retinoblastoma.Given these findings and a flat electroretinogram, the eye was enucleated with final pathologic confirmation of retinoblastoma.Conclusions:Previously unreported presentation of unilateral retinoblastoma in a child with pigmentary mosaicism.

Presentation of retinoblastoma at a paediatric eye clinic in Ghana

Retinobalstoma, the commonest childhood malignant intraocular tumour, is usually diagnosed early with over 90% survival rate in developed countries. In developing countries, the diagnosis is late resulting in less than 50% survival. To determine retinoblastoma stages at presentation and patients' outcomes. Retrospective case series. The clinical and histopathological records of children with retinoblastoma seen from May 2004 to December 2005 were studied. Data was analysed for mode of presentation, laterality, clinical staging using Reese-Ellsworth (R-E) classification, histopathological high risk features (HHRF) for metastasis, and patient outcome. Ophthalmology Unit, Korle-Bu Teaching Hospital, Ghana. Twenty-three patients presented with retinoblastoma over the period. Males were 12(52.2%). The age range from 1 to 84 months, mean 36.3(±22.15) and median (36 months). Nineteen (82.6%) had unilateral and 4(17.4%) bilateral disease. The common clinical presentations were leukocoria in 20(87.0%), proptosis 8(34.8%), strabismus 5(21.7%) and red eye 5(21.7%). The clinical features were commensurate with R-E stage V in 20(87.0%) patients, 2(8.7%) with orbital recurrence and 1(4.3%) with post-enucleation anophthalmos. HHRFs were present in 9(75%) enucleated eyes with invasion of optic nerve as the commonest site (7/9). The patients were followed up for 1 day to 19 months. Eight abandoned treatment, 2 were discharged for palliative treatment, 2 out of 5 with metastasis died and 6 had no metastases at their last visit. Common sites for metastasis were the bone marrow, brain and orbit. Majority of the patients presented with advanced disease manifesting as leukocoria, proptosis, RE stages V disease and poor outcome.

Clinical Presentation and Outcome of Retinoblastoma among Children Treated at the National Cancer Institute (NCI) in Gezira, Sudan: A single institution experience

Background: Retinoblastoma (RB) is a rare and unique cancer that affects the eyes of very young children. There are few reports on RB in Sudan.Materials and Methods: We performed a retrospective study of data from patients diagnosed with retinoblastoma between January 1999 and December 2009 at the National Cancer Institute in Gezira (NCI-Gezira).Results: Of the 519 cases of childhood cancer treated at NCI-Gezira during the study period, 25 (4.8%) were retinoblastoma. Of these 25 patients with retinoblastoma, there were 13 boys and 19 cases were unilateral. The median age at diagnosis was 36 months (range, 8–60 months). The disease was localized in 9 patients, regional in 5 patients, and metastatic in 11 patients. The most frequent symptoms were enlarged eye (n = 14) and leukocoria (n = 8). Nine patients (36%) have been lost to follow-up; 9 were alive at last follow-up (7 in remission, 2 progressed); and 7 have died (5 from disease and 2 from unrelated causes). Twenty-two eyes were enucleated in 16 patients (6 bilateral and 10 unilateral). Pathologic examination of the enucleated eyes could only be completed in 11 patients. Diagnostic imaging in the form of computerized tomography scans or ultrasonography of the brain and orbit was done for 10 patients (40%).Conclusions: Although these findings are not surprising, and similar to reports from other developing countries, we hope our work will provide a foundation for strategies to improve outcome for retinoblastoma in our center such as proper training, public awareness, team approach, and twinning.

Phthisis bulbi in retinoblastoma

Phthisis bulbi is a relatively uncommon and atypical clinical presentation of retinoblastoma. Retrospective study conducted at a tertiary care hospital. Eighteen consecutive retinoblastoma patients with primary phthisis bulbi. Retrospective analysis of clinical, imaging and histopathological features of all retinoblastoma patients with primary phthisis bulbi, treated at our centre between January 2005 and December 2009. Clinical and histopathology features. Eighteen (3.5%) retinoblastoma patients developed primary phthisis bulbi. The median age of presentation was 1.5 years. The median duration of symptoms before presentation was 6 months. In total, 15 out of 18 (83%) cases had bilateral disease. Among these, 80% (12/15) had advanced intraocular disease in the fellow eye. Most common first symptom was white reflex. History of orbital inflammation was present in 12/18 cases. Computed tomographic scan of orbit showed intraocular mass with calcific densities in 16 eyes. In two cases, hyperdense mass was seen without any calcification. On histopathology, residual viable tumour cells with characteristics of poorly differentiated retinoblastoma were found in 67% (12/18) eyes. High-risk factors were present in six cases with microscopic residual disease in three cases. This is the largest case series of retinoblastoma patients with primary phthisis bulbi. Phthisis bulbi in retinoblastoma may be associated with bilateral disease in most cases and advanced intraocular disease in the fellow eye in a significant number of cases. Regression is incomplete in majority of these cases; therefore, enucleation must definitely be done in all cases of retinoblastoma presenting with phthisis bulbi.

Retinoblastoma—2010 and beyond

Relevance: Knowledge of the various presentations of retinoblastoma is essential to paediatric ophthalmology practice. An understanding of the genetic cause, treatment options, outcomes and associated health issues is of value to the general paediatric ophthalmologist.

Retinoblastoma in a 48-year-old woman.

The purpose of this study was to describe an unusual presentation of retinoblastoma in an adult. Retrospective case report. A 48-year-old woman with floaters was found to have an amelanotic intraocular mass with localized vitreous seeds in the superior fundus. Metastatic workup was negative. Cytologic examination of the vitrectomy specimen showed a malignant neoplasm with neuroendocrine differentiation, suspicious for carcinoid tumor. The patient later was found to have a lung lesion presumed to be a carcinoid tumor. She was treated with external beam radiation to the eye, but 1 year later, a new retinal tumor was discovered inferiorly requiring plaque radiotherapy. Soon thereafter, she developed massive intraocular recurrence. The eye was enucleated. Histopathology revealed small round blue cells with round hyperchromatic nuclei. Rosettes were also present within the tumor consistent with retinoblastoma. Late-onset retinoblastoma can occur in adults, and the diagnosis can be challenging.

Bilateral retinoblastoma presenting as metastases to forearm bones four years after the initial treatment

Osseous metastases from retinoblastoma, the most common ocular malignant neoplasm of childhood, are reported most commonly in the skull and long bones. However, metastases to forearm bones are very rare. Here we present a case of bilateral retinoblastoma with metastases to right forearm bones four years after the initial treatment.

Retinoblastoma Presenting as Strabismus and Leukocoria

Figure 2. Close-up examination showing total retinal detachment in an eye filled with white tumor. A 22-month-old otherwise healthy girl presented for evaluation of an inturned left eye of 3 months duration. She had been followed approximately every 6 months via red-reflex evaluation by her pediatrician, who noted a dramatic change over a 4-month period. External examination revealed a left esotropia with leukocoria (Figure 1). Ophthalmologic examination revealed a normal right eye and total retinal detachment in a tumor-filled left eye (Figure 2). Magnetic resonance imaging showed a large heterogeneous mass filling the left globe with extension into the left optic nerve head, but no metastases or secondary lesions. Further questioning disclosed that the child’s mother had bilateral retinoblastoma requiring enucleation of both eyes 38 years earlier at 4 months of age. Retinoblastoma is the most common primary intraocular malignancy of childhood. It is caused by a mutation to the retinoblastoma tumor-suppressor gene on the long arm of chromosome 13. Affected children often present with strabismus, leukocoria, and amblyopia. Patients with bilateral disease are presumed to have germline mutations and have a 45% chance of having a child with retinoblastoma. Genetic counseling is an important part of the management of patients with retinoblastoma. Treatment varies depending on tumor size, number, and location. Current treatments include laser photocoagulation, thermotherapy, cryotherapy, local or systemic chemotherapy, external-beam radiotherapy, brachytherapy, and enucleation. Historically, treatment for survival involved enucleation, but current treatments have trended toward vision and globe-sparingmodalities. In de-

Typical and Atypical Presentations of Retinoblastoma

Typical and Atypical Presentations of Retinoblastoma

Clinical presentation of retinoblastoma in Malaysia: a review of 64 patients.

To analyze the demography, presenting clinical features, spread of the disease of retinoblastoma in patients who were treated in two tertiary hospitals in Malaysia. In this retrospective study, information of gender, age, race, presenting clinical features, findings of CT scan orbits and brain, lumbar puncture and bone marrow aspiration results were collected from the medical records of retinoblastoma patients diagnosed in Hospital of Universiti Sains Malaysia and General Hospital of Kuala Lumpur over a period of ten years. The data were collected in the same type of proforma from both hospitals. A total of 64 patients were treated in both hospitals together, of whom boys and girls were almost equally affected. The mean age of children at presentation was 24.2 (range 3-84) months, 53 (82.8%) children were under 36 months old. The disease was unilateral in 39 (60.9%) patients. The most common presenting signs were leukocoria in 46 (71.8%), followed by proptosis in 21 (32.8%) patients. Routine screening of the siblings of affected children revealed retinoblastoma in 2 patients. There was intracranial extension in 8 (12.5%) and metastasis in bone marrow in 6 (9.3%) patients. Leukocoria is the most common presentation of retinoblastoma in Malaysia. However, the disease was intraocular in 40 (62.5%) and extraocular (orbital involvement, intracranial and distant metastasis) in 24 (37.5%) patients.

Presentation of retinoblastoma in pregnancy

A 22-year-old female in her third trimester of pregnancy was referred to our department for sudden loss of vision with a painful blind eye. It was diagnosed as retinoblastoma clinically and radiologically. Histopathology and immunohistochemistry confirmed the diagnosis. This case is one of its kind because retinoblastoma occurring during pregnancy had not been reported in literature so far.

Presentation of retinoblastoma in pregnancy

Presentation of retinoblastoma in pregnancy

Interventions to promote cancer awareness and early presentation: systematic review

Background:Low cancer awareness contributes to delay in presentation for cancer symptoms and may lead to delay in cancer diagnosis. The aim of this study was to review the evidence for the effectiveness of interventions to raise cancer awareness and promote early presentation in cancer to inform policy and future research.Methods:We searched bibliographic databases and reference lists for randomised controlled trials of interventions delivered to individuals, and controlled or uncontrolled studies of interventions delivered to communities.Results:We found some evidence that interventions delivered to individuals modestly increase cancer awareness in the short term and insufficient evidence that they promote early presentation. We found limited evidence that public education campaigns reduce stage at presentation of breast cancer, malignant melanoma and retinoblastoma.Conclusions:Interventions delivered to individuals may increase cancer awareness. Interventions delivered to communities may promote cancer awareness and early presentation, although the evidence is limited.