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PubMed2000

Emotional reactions in parents and children after diagnosis and treatment of a malignant tumour in the eye.

Retinoblastoma is a rare malignant tumour in the retina usually presenting before 3 years of age. In Sweden, 6-7 new cases are diagnosed each year. The medical treatment is highly specialized, very effective, with a survival ratio of almost 100%. Very little was known about the emotional and psychosocial effects on the parents and the patients themselves. This study includes all children diagnosed in Sweden between 1992 and 1994. The parents and children were included in our longitudinal support programme immediately after the diagnosis was made. This paper deals with the following topics: how the illness was detected and diagnosed, how the parents were handled by the health professionals, the parents' emotional reactions to the diagnosis and treatment and how the children reacted to the disease and treatment. Children's concepts of illness and acute loss are discussed.

Child↗
PubMed2002

Photoreceptor cell differentiation in retinoblastoma demonstrated by a new immunohistochemical marker mucin-like glycoprotein associated with photoreceptor cells (MLGAPC).

AIMS: For further understanding of specific differentiation in retinoblastoma, we studied the expression of newly detected mucin-like glycoprotein associated with photoreceptor cells (MLGAPC), which is specific for photoreceptor cells of retina and analogous to interphotoreceptor matrix proteoglycan-1 (IMPG1). METHODS AND RESULTS: Surgically enucleated retinoblastomas (n=21; undifferentiated type, n=15, differentiated type, n=6) were immunohistochemically studied with a polyclonal antibody against MLGAPC, and 17/21 cases (81%) showed positive staining of tumour cells. We classified various staining patterns and structures into four groups: type 1 showing a granular intracellular scattered staining pattern with round small cells; type 2 showing a reticular staining pattern between spindle-shaped tumour cells; type 3 showing radiating staining from the centre of Homer-Wright rosettes; type 4 showing ring-shaped, radiating and granular staining associated with Flexner-Wintersteiner rosettes. Eleven of 15 undifferentiated retinoblastomas (73%) showed type 1 or 2, and all the six differentiated cases showed type 3 or 4. Image analysis of immunostaining revealed an increase in MLGAPC-positive area from 0.48% in undifferentiated cases to 1.60% in differentiated cases, and a negative correlation was shown between mitotic frequency and MLGAPC-positive area. CONCLUSIONS: This study proved MLGAPC as a valuable marker of retinoblastoma, and that photoreceptor differentiation takes place even in 'undifferentiated' retinoblastoma.

Biomarkers, Tumor↗
PubMed1998

The eye in von Hippel-Lindau disease. Long-term follow-up of screening and treatment: recommendations.

Von Hippel-Lindau disease (VHL) is an autosomal dominant tumour syndrome caused by germline mutations of the VHL tumour suppressor gene located on chromosome 3p25-26. In VHL tumours may occur in 14 different target organs, including the eye. Retinal angiomas are considered the first manifestation of VHL disease in 43% of cases, and the cumulative probability of developing a retinal angioma in one or both eyes rises during each decade of life, reaching 80% for patients over 80 years old. Since 1976 patients with VHL at the University Hospital of Utrecht and their at-risk relatives have been screened periodically by a multidisciplinary team. Long-term follow-up ophthalmological data were analysed with special attention to natural course and results of treatment. In addition, we looked for a genotype-phenotype correlation. Retinal angiomas were found in all families. In one large family with a missense mutation (V170D) of the VHL gene, in which the complete spectrum of visceral- and central nervous system (CNS) features of VHL is present, macular, parapapillary, optic disc and ora serrata angiomas were also found. In general, however, a clear-cut genotype-phenotype correlation could not be found. Only early detection and treatment of peripheral retinal angiomas can be expected to decrease the percentage of patients with decreased visual acuity. Therefore, early detection and treatment of these tumours is of paramount importance. Ophthalmological screening of patients and persons at risk should start as early as possible. In patients with apparently sporadic retinal angiomas it is advisable to perform germline DNA analysis, since the risk of developing VHL is high, especially if the angiomas are bilateral, or unilateral and multifocal, if the patient is young, or if there is a family history suggestive of VHL.

Adult↗
PubMed1999

Late presentation of a unilateral sporadic retinoblastoma in a 16-year-old girl.

BACKGROUND: Retinoblastoma is the commonest intraocular tumour of childhood with the majority of cases being diagnosed before 5 years of age. Late presentation of retinoblastoma is rare. CASE HISTORY: A healthy 16-year-old Caucasian girl presented with a 1-day history of blurred vision in the left eye. Examination revealed an inferonasal mass in the left retina with an overlying haemorrhage and vitreous seeding. Imaging studies revealed a 5-mm densely calcified opacity. Other investigations, including cerebral spinal fluid examination, bone marrow aspirate trephine, toxocara serology and serum protein studies, were normal. After considering the differential diagnoses such as toxocariasis and Coat's disease, a diagnosis of late-presenting retinoblastoma was made. The patient subsequently underwent enucleation with a primary orbital implant. The diagnosis was confirmed histopathologically. CONCLUSION: Late presentation of retinoblastoma is uncommon but can be a cause of acute visual impairment in the non-paediatric age group. Retinoblastoma should be considered in the differential diagnosis of a fundal mass in any age group.

Adolescent↗
PubMed2003

Immunohistochemical localization of human pineal tissue antigens in normal retina and retinoblastomas.

The normal human retina and retinoblastomas were examined immunohistochemically to assess the localization of pineal antigens in the retina and the oncogenesis and differentiation of retinoblastoma. In the present study, 41 eyes excised from children (aged 4 months to 7 years, all unilateral occurrence) diagnosed to have retinoblastoma and 4 eyes with normal retinas, were used. Retinoblastomas were histopathologically classified into well-differentiated, moderately-differentiated, and poorly-differentiated types. The antibodies used were 9 monoclonal antibodies to human pineal antigens and 6 antibodies to neural tissues. In the normal retina, staining patterns characteristic of retinal cell layers were observed with PP1, PP3, PP5, PP6, PI1, and PI2 antibodies. In retinoblastomas, PP5 antibody, which reacts with horizontal cells and ganglion cells, and PP6 antibody, which reacts with part of the bipolar cells in the inner nuclear layer, showed intense staining in well-differentiated retinoblastomas, but the intensity of staining and the positivity decreased with the degree of dedifferentiation. Antigens recognized by PP3 and PP4 antibodies were positive in all retinoblanstomas. Reactions to GFAP antibody and antibodies that recognize Müller cells were negative. Retinoblanstomas may express markers of not only photoreceptor cells but also other retinal nuclear cells. These results suggest that the retinoblastoma might be developed from visual stem cells, which are common progenitor cells of photoreceptor cells, intermediate neurons, and ganglion cells.

Antibodies, Monoclonal↗
PubMed2003

Sarcoma and familial retinoblastoma.

BACKGROUND: Retinoblastoma is the most common malignant ocular tumour of childhood. It results from mutations in the retinoblastoma gene, RB1, which may be sporadic or heritable. Only 10-25% of patients have a family history of retinoblastoma and can be assumed to have a heritable RB1 mutation. A small proportion of the remaining patients may have a heritable mutation despite the lack of relatives with retinoblastoma. Heritable RB1 mutations are associated with an increased risk of sarcoma. Described herein are three patients with a past history of retinoblastoma, no family history of retinoblastoma, and a first-degree relative with sarcoma. Mutation analyses were performed on DNA samples from these patients to test for heritable RB1 mutations. METHODS: A genomic DNA analysis of RB1 gene. RESULTS: Heritable mutations in the RB1 gene were identified in two of the three cases. In these two cases, Bayesian risk calculation indicated that the chance of the affected relatives having the familial RB1 mutation was greater than 90%. In the case without an identified mutation, Bayesian risk analysis indicated that the chance of there being an unidentified familial RB1 mutation was low (16%) but could still be clinically significant in managing the family. CONCLUSION: The risk of non-ocular malignancies and the availability of genetic testing for heritable RB1 mutations have important clinical implications for the management of children with retinoblastoma.

Adult↗
PubMed2004

Retinoblastoma, microphthalmia and the chromosome 13q deletion syndrome.

A 10-month-old boy, known to have the 13q deletion syndrome, presented with leukocoria in a microphthalmic right eye. He was found to have bilateral retinoblastoma requiring enucleation of the right eye and laser, cryotherapy and external beam radiation to the left eye. This case demonstrates that retinoblastoma may be present in a microphthalmic eye and that more than one imaging modality should be used in the evaluation of suspected retinoblastoma, as calcification may be absent on the computed tomography scan but present on B-mode ultrasound. Children with a known 13q deletion require immediate and serial ophthalmological examinations.

Chromosome Deletion↗
PubMed2004

Retinopathy in acute leukaemia at initial diagnosis: correlation of fundus lesions and haematological parameters.

PURPOSE: To determine the prevalence of retinal changes in newly diagnosed acute leukaemia patients, and to establish the relationship between retinal lesions and haematological parameters in these patients. METHODS: A total of 127 patients with acute leukaemia (myeloid and lymphoid), of both genders, aged between 13 and 77 years, were examined by an ophthalmologist for retinal changes using direct/indirect ophthalmoscopy within 2 days of diagnosis before starting chemotherapy. RESULTS: Retinal lesions were seen in 62 cases (49%), with intraretinal haemorrhages being the most common lesion (42%). A high white blood cell count was significantly associated with intraretinal haemorrhages (p = 0.04) and white-centred haemorrhages (p = 0.001), while a low platelet count was significantly associated with intraretinal haemorrhages (p = 0.03) in acute myeloid leukaemia patients. CONCLUSIONS: A high white blood cell count may be considered as important as a low platelet count in the pathogenesis of leukaemic retinopathy.

Acute Disease↗
PubMed2000

Hereditary cancers in children and ethical and psychosocial implications.

This article describes the application of genetic testing of children for hereditary cancers and the resultant ethical and psychosocial implications. Basic cancer genetics concepts are reviewed. Specific hereditary cancers that may affect children are described along with case examples and recommendations for nursing practice.

Adenomatous Polyposis Coli↗
PubMed2000

[Intraocular involvement as initial symptoms of non-Hodgkin lymphoma].

BACKGROUND: The diagnosis of a intraocular lymphoma is often delayed because of a symptomatic pseudouveitis. CASE REPORT: We report on a 68-year-old female patient, who was referred because of a tumor of the optic disk in her right eye and bilateral uveitis with secondary glaucoma. The painful blind right eye was enucleated. The assumed diagnosis of a pseudouveitis as an initial manifestation of a B-cell lymphoma was confirmed histologically. She developed systemic extension and recurrence in the second eye despite polychemotherapy. The patient died from complications of her systemic tumor disease 15 months after initial symptoms. CONCLUSIONS: An initially unilateral and later bilateral uveitis in elderly patients which does not respond to steroid therapy could also be suspicious for an intraocular lymphoma. If the conjunctiva is not involved, the confirmation of the diagnosis requires a diagnostic viteous biopsy.

Aged↗
PubMed2005

[Retinal angiomatosis].

BACKGROUND: Retinal capillary hemangioblastomas occur sporadically or as one of the manifestations of VHL (von Hippel-Lindau syndrome). In the assessment of retinal hemangioblastomas it is necessary to know about VHL, an autosomal dominant disease, a multisystem familial tumour syndrome. METHODS: An overview of the diagnosis and therapy of VHL is presented. RESULTS: Minimal criteria of the syndrome are tumours in one index patient and one of the typical lesions in another first-degree relative. Retinal hemangioblastomas were already found in children. Only 5 % of patients with VHL present retinal capillary hemangioma before the age of 10 years, and most patients present between the ages of 10 and 40 years. Data suggest that retinal capillary hemangioma is usually manifested by the age of 30 years. The VHL gene functions as a tumour suppressor gene and is mapped to the short arm of chromosome 3p25. The mapping of a locus for VHL has offered the prospect of presymptomatic diagnosis of the disease using DNA markers. Small retinal tumours are treated by photocoagulation, big hemangioblastomas by cryotherapy. Modern options in treatment of retinal tumours are proton therapy, plaque radiotherapy, pars-plana vitrectomy, photodynamic therapy, transpupillary thermotherapy and systemic treatment with the vascular endothelial growth factor (VEGF) receptor inhibitor, in addition. CONCLUSIONS: The interdisciplinary Freiburg VHL study which has been in existence for more than 20 years, has shown that an extensive family screening for early detection of the disease is necessary. The assessment of the diagnosis in a VHL carrier requires close follow-up for multiple and recurrent tumours.

Genetic Testing↗
PubMed2005

Genomic imprinting and assisted reproductive technology: connections and potential risks.

Assisted reproductive technology (ART) has become the standard of care for the treatment of many types of infertility. As a result, the numbers of children born after ART worldwide has escalated dramatically, and attention has turned to the potential risks of these procedures to the health and development of the children. In addition to the well-established risks of multiple gestations, recent reports have suggested a link between ART and rare disorders of imprinting including Beckwith-Wiedemann syndrome and Angelman syndrome. Here we review molecular mechanisms of genomic imprinting, consider how ART procedures could influence imprinting of gametes and embryos, and review the reports connecting imprinting disorders to ART. We highlight the importance of long-term follow-up of children born after ART, and emphasize the need for an improved understanding of the mechanisms of imprinting at the molecular level so that methods to prevent disruption of this critical epigenetic process can be developed.

Angelman Syndrome↗
PubMed2006

[Retinal angiomatous proliferation in age-related macular degeneration].

BACKGROUND: Angiomatous proliferation in ARMD originates from the retina and extends into the subretinal space. Retinal angiomatous proliferation (RAP) is diagnosed with angiography. This study investigates the characteristics of RAP in optical coherence tomography (OCT) and correlates them with clinical and fluorescein angiographic findings. METHODS: 327 consecutive patients with age-related macular degeneration (ARMD) were retrospectively examined using a standardised protocol. The protocol included best corrected visual acuity (BCVA), binocular ophthalmoscopy, fundus photography, fluorescein angiography (FAG) and OCT. The OCT and angiographic findings were graded in 3 RAP stages. RESULTS: 32 of 327 (9.79 %) patients (45 eyes) had RAP. The age ranged from 56 to 90 years (median: 79 years). 9 eyes presented RAP stage I, 23 stage II and 13 stage III. BCVA ranged from 0.01 to 0.7 (median: 0.2). OCT foveal minimum was 136 to 722 microns (median: 327). 33 (73 %) eyes showed a detachment of retinal pigment epithelium (RPE). Macular oedema was found in 43 (96 %) eyes. Cystoid macular oedema was seen in 36 (80 %) eyes. In stage II, 22 eyes (96 %) showed an RPE detachment, in stage III 11 eyes (85 %). 11 (85 %) eyes in stage III showed retinal-choroidal anastomosis. CONCLUSIONS: RAP was found in 9.79 % of the patients with ARMD. The OCT is helpful in detection of RPE detachment, macular oedema and cystoid changes in RAP. RAP and retinal-choroidal anastomosis should be identified because of the possibly poor prognosis.

Aged↗
PubMed1999

[Leukokoria in a child: emergency and challenge].

PURPOSE: To heighten the awareness of the medical world to the importance of correct and rapid diagnosis in the presence of leukocoria in the child. METHODS: Starting with the presenting symptom, the authors present the guide lines to follow in a practical manner in order to reach a diagnosis in the principal retinal diseases causing leukocoria. RESULTS: A white pupil is due to retinoblastoma in almost half of all cases. Other possible causes, in order of frequency, are: persistent hyperplastic primary vitreous, Coats' disease, ocular toxocariasis, retinopathy of prematurity, retinal hamartomas. Diagnosis can usually readily be made by ophthalmoscopy, but may be problematic when the clinical presentation is atypical or in the presence of late complications. Age, sex, laterality, heredity, and in particular the presence or absence of calcifications and the size of the globe, are the main criteria for diagnosis. Ultrasonography plays a major role in this essential quest for correct diagnosis, quest which may ultimately lead to enucleation. CONCLUSION: Leukocoria in the child is a danger signal demanding certain diagnosis within the shortest possible time.

Child↗