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Intraocular histiocytosis in a 12-year-old girl without systemic disease.

Isolated intraocular histiocytosis is a rare disease that may manifest by recurrent uveitis and solid subretinal masses. The course, diagnosis and treatment of isolated intraocular histiocytosis in a 12-year-old girl are presented. As extensive diagnosis and therapy with corticosteroids and tuberculostatics failed to produce satisfactory results, diagnostic-therapeutic vitrectomy was performed. The intraoperatively obtained material was examined by the methods of histopathology, cytology and immunocytochemistry, along with herpes and cytomegalovirus polymerase chain reaction. The vitreous inflammatory exudate and subretinal masses were operatively removed. Analysis of the intraoperatively obtained material pointed to histiocytosis, whereas additional examinations revealed no systemic manifestations of the disease. Chronic uveitides that respond poorly to classic immunosuppressive therapy require multidisciplinary analysis of intraocular material. Pars plana vitrectomy is an appropriate diagnostic-therapeutic operative procedure.

Child↗

Trilateral retinoblastoma: a literature review, 1971-2004.

This study analyzes modern views on the history, variants, age at diagnosis of trilateral retinoblastoma, median time from retinoblastoma to trilateral retinoblastoma, the largest size and percentage of trilateral retinoblastoma among retinoblastoma cases, functions of pineal gland, genetics, ocular and intracranial histology, diagnosis, treatment, therapy results, survival rates and frequency of screening of trilateral retinoblastoma.

Age Distribution↗

Expression of p27(KIP1) and cell proliferation in human retina and retinoblastoma.

BACKGROUND: Retinoblastoma is a rare cancer of the eye, in which biallelic inactivation of the retinoblastoma gene is a hallmark. Although retinoblastoma protein (Rb) and p27(KIP1) block the cell cycle transition from G1- to S-phase, the interaction has not been confirmed in vivo. The aim of this study was to examine the correlation between the expression of p27(KIP1) and cell proliferation in human retina and retinoblastoma. MATERIALS AND METHODS: Human retinoblastoma, surgically removed, was fixed by 4% paraformaldehyde. Then, paraffin-embedded tissue sections were examined using immunohistochemistry with anti-p27(KIP1) and anti-proliferating cell nuclear antigen (PCNA) antibodies. RESULTS: Retinoblastoma tissue was adjacent to the normal retina in which tumor cells with homogeneous nuclei proliferated and it was impossible to identify the layer structure of the inner nuclear layer (INL) and the outer nuclear layer (ONL). In normal retina, PCNA-positive nuclei were not observed, whereas nuclear immunoreactivity for PCNA was detected in a variety of tumor cells. Many p27(KIP1)-positive nuclei were detected in INL and ONL, while p27(KIP1) immunoreactivity was not detected in retinoblastoma cells. CONCLUSION: The correlation between disappearance of p27(KIP1) and induction of proliferation activity suggests that functional loss of Rb leads to down-regulation of p27(KIP1) and uncontrolled retinal cell proliferation.

Cyclin-Dependent Kinase Inhibitor p27↗

Phacoemulsification surgery and foldable intraocular lens implantation in a child with regressed retinoblastoma.

PURPOSE: The management of retinoblastoma has been shifting toward conservative treatment. Visual preservation has become a concern as tumor regression is achieved. To report the surgical approach and outcome of a radiation-induced cataract in an only eye with regressed retinoblastoma. METHODS: Single case report and review of literature. RESULTS: Small incision sutureless phacoemulsification and implant of an acrylic foldable intraocular lens was performed. Best-corrected visual acuity 1 year after surgery was 20/20. No tumor recurrence has been noted after 27 months of follow-up. CONCLUSIONS: Phacoemulsification and foldable intraocular lens implant seemed to be an appropriate therapeutic option for this case.

Cataract↗

Karyotyping in retinoblastoma--a statistical approach.

PURPOSE: Karyotype analysis in hereditary retinoblastoma is considered to be of marginal value in risk prediction due to uncertainties in the assessment of 13q14 deletions. However, it is a low cost genetic test for retinoblastoma in developing countries. In the present study, the results of karyotype analysis were refined by a statistical method to overcome limitations. METHODS: Karyotype analysis was performed by trypsin-Giemsa banding and naked eye karyotyping for 33 bilateral, 25 unilateral and one regressed retinoblastoma patients. The percentage of metaphases with 13q14 deletions in each case was plotted on a scatter diagram. Normalization of the data was achieved by log transformation and the results were statistically analyzed by one-sample 't' test using SPSS version 9.0. RESULTS: Seven samples had 13q14 deletion percentages above the cutoff value. One-sample 't' test showed significance (p< 0.001). By this method, two unilateral and five bilateral patients had 13q14 deletions, constituting 11.8 % of cases. CONCLUSION: For accuracy, statistical analysis should be considered as an adjunct in karyotyping.

Chromosome Banding↗

Minimally invasive method for repair of rhegmatogenous retinal detachment following treatment for retinoblastoma.

A minimally invasive method for repair of rhegmatogenous retinal detachment following treatment of retinoblastoma is described. Two children with retinoblastoma developed rhegmatogenous retinal detachments following treatment with a combination of chemotherapy and cryotherapy. Each eye underwent a non-drainage scleral buckling procedure without retinopexy of the retinal break. Postoperatively, the retinas reattached and retinopexy with indirect laser photocoagulation was performed during subsequent examinations under anesthesia. The retinas have remained attached with 2 to 5 years of follow-up. The tumor recurred in case 2, was treated with additional chemotherapy, and has undergone type 1 regression. Non-drainage scleral buckling without retinopexy is a useful technique for repairing rhegmatogenous retinal detachment in eyes with retinoblastoma. The retinal break can be treated postoperatively with indirect laser photocoagulation to minimize the chance of viable tumor cell dissemination.

Antineoplastic Agents↗

Retinoblastoma.

Retinoblastoma, a neuroblastic tumor, is the most common primary intraocular malignancy of childhood. Patients usually present with leukokoria (white reflex or white pupil), detected in primary care. The mean age at diagnosis is 12 months for bilateral tumors and 24 months for unilateral tumors. If untreated, almost all patients die of intracranial extension and disseminated disease within two years. However, new diagnostic and treatment methods allow for a high cure rate (93 percent five-year survival in the United States), therefore it is important that primary care physicians recognize the manifestations of this malignancy. Diagnosis is primarily by history and complete ophthalmic examination, with studies including ultrasonography of the eye and imaging of the orbits and brain. Treatment modalities include laser thermotherapy, cryotherapy, radioactive plaques, external beam radiotherapy, chemotherapy, and enucleation. Prospective parents with a family history of retinoblastoma should be referred for genetic counseling. Office evaluation for a red reflex in children should be performed until three years of age. If leukokoria is observed, the patient should be examined by an ophthalmologist within one week.

Combined Modality Therapy↗

Nurse-initiated retinoblastoma service in New Zealand.

A diagnosis of retinoblastoma is devastating not only for the parents of the children but also for the ophthalmic staff who are involved in the provision of care. In Auckland, New Zealand, the Ophthalmology Department provides specialist ophthalmic care for children and their families diagnosed with retinoblastoma. It became clear to nurses with an interest in retinoblastoma that the service provided was not meeting the needs of patients and families, particularly since the numbers had increased over the past two years. Improving our service was essential, but it had to be done in a cost-effective way. We have been successful in implementing a dedicated support network and service for these patients and families with very little additional resources, and we are extremely proud of these achievements.

Humans↗

An observational study on retinoblastoma cases attending a medical college in Calcutta.

Excision of the eyeball was done in 23 cases with diagnosis of retinoblastoma in a medical college of Calcutta. Of them, 21 cases were histologically proved to be retinoblastoma. A clinicopathological study of these 21 cases was done. Retinoblastoma patients were between 5.5 and 71 months of age, 57.1% were females, in 90.4% cases there was unilateral involvement and left eye was affected in 68.4% patients. All the patients had negative family history. Majority of the patients (85.7%) presented with leucocoria. Multiple presenting features were present in 5 patients. Aqueous humour cytology revealed malignant cells in 9.5% patients. Imprint cytology of cut end of optic nerve stump was negative for malignant cells in all the cases. Histopathological study revealed presence of Flexner-Wintersteiner rosettes in 23.8%, pseudorosettes in 28.6%, anterior chamber involvement in 38%, choroid invasion in 42.8%, optic nerve involvement in 28.6%, necrosis in 28.6% and calcification in 9.5% cases. After one year of follow-up, none developed any metastasis except one patient who had developed intracranial metastasis.

Aqueous Humor↗

[Results of combined chemoreduction and local treatment for intraocular retinoblastoma].

PURPOSE: Of this study was to evaluate the results of combined treatment for intraocular retinoblastoma. MATERIALS AND METHODS: We examined 23 children (32 eyes), 14 with unilateral and 9 with bilateral disease. 53% of eyes had the stage V of the disease, according to Reese-Ellsworth. RESULTS: In I-III group according to R-E, it was possible to save more than 90% of eyes. In group IV-V we saved 20% of eyes. CONCLUSIONS: Chemoreduction combined with local treatment is an optimal method of treatment for retinoblastoma, especially in I-III group.

Antineoplastic Combined Chemotherapy Protocols↗

[Two cases of retinal hemangioma treated by transpupillary thermotherapy].

PURPOSE: To evaluate transpupillary thermotherapy(TTT), the treatment was reviewed in two cases of retinal hemangioma which resisted photocoagulation. CASE 1: A 25-year-old man was referred to us for visual impairment in his right eye caused by retinal hemangioma. Although photocoagulation had been performed once in a previous hospital, the treatment was unsuccessful. His visual acuity was 0.1 OD. Ophthalmoscopic examination revealed a hemangioma located in the superotemporal peripheral retina with serous retinal detachment. We performed photocoagulation of the afferent artery and TTT of the hemangioma two times each. The hemangioma regressed and the serous retinal detachment resolved. The patient's visual acuity OD improved to 0.2. CASE 2: A 13-year-old girl was referred to us for visual impairment in her right eye caused by retinal hemangioma. Photocoagulation had been performed five times in a previous hospital, but the treatment was unsuccessful. Her visual acuity was 0.05 OD. Opthalmoscopic examination revealed a hemangioma located in the inferonasal peripheral retina with serous retinal detachment. We performed photocoagulation of the afferent artery two times and TTT of the hemangioma four times. The hemangioma regressed and the serous retinal detachment resolved. CONCLUSION: TTT is performed with a larger spot size, a longer wavelength, and a longer duration than photocoagulation. TTT could be an effective treatment for retinal hemangioma.

Adolescent↗

[Evaluation of cisplatin ototoxicity by the audiometric curve in retinoblastoma].

BACKGROUND: To evaluate hearing loss severity according to Brock's gradient and to compare it with the audiometric curve during cisplatin treatment in children with retinoblastoma. METHODS: This was an observational retrospective and retrolective study. Twenty children with the diagnosis of retinoblastoma under cisplatin treatment were included. Audiometric testing was performed before treatment, after the second and fourth doses, and after the final dose. RESULTS: Decreased audition was observed in 100% of the cases. Ototoxicity can be observed with cumulative doses of 240 mg/m(2) and higher. No improvement in audition was observed and the audition loss progressed from high to medium frequencies; 15% of the patients showed a grade II loss of high frequencies at the end of the second dose. This level was observed in 95% of the cases at the end of treatment. Two years after completion of therapy, no patient showed auditory recovery. Area below the curve showed higher sensitivity to identify initial auditory loss. CONCLUSIONS: Evaluation of audition with Brock's gradient can be performed. The area under the curve is a useful method to identify minor changes in serial conventional audiometry.

Antineoplastic Agents↗

[Persistent hyperplastic primary vitreous--developmental anomaly of the eye in children].

Persistent hyperplastic primary vitreus in children continues to be a diagnostic and therapeutic challenge for ophthalmologists. It can occur in isolation, in association with other ocular disorders and rarely as a part of systemic disorder. Characteristic features include microphthalmic eye, white vascularized retrolental tissue with or without a persistent hyaloid artery, centrally dragged ciliary processes, an anteriorly shifted and (or) swollen lens, and varing degrees of lenticular opacification. PHPF is the most common associaton with unilateral cataracts. Differential diagnosis and functional effect of treatment are discussed.

Abnormalities, Multiple↗

Retinoblastoma: a diagnostic model for India.

PURPOSE: Molecular genetic diagnostics for retinoblastoma are prerequisite for accurate risk prediction and effective management. Developing a retinoblastoma diagnostic model to establish a flow for laboratory tests is thus a necessity for tertiary ophthalmic institutions. An efficient diagnostic model could reduce the overall health care costs, redirect the resources to the high risk group and also avoid unnecessary worry for families. To the best of our knowledge there has hitherto been no comprehensive diagnostic model for retinoblastoma implemented in any institution in India. METHODS AND DISCUSSION: The diagnostic model demonstrates the logical and practical flow of various genetics tests like karyotyping, loss of heterozygosity analysis, molecular deletion, linkage analysis (familial cases), mutation screening of -CGA exons first and then non-CGA exons, methylation screening of RB1 and essential promoter regions screening in a laboratory. CONCLUSIONS: The diagnostic model proposed offers acomprehensive methodology to identify the causative two-hits for retinoblastomas that could be used while genetic counseling families. This model is applicable in tertiary hospitals in India and neighboring countries, which have the highest incidence of retinoblastoma and fertility rates in the world. We suggest that this diagnostic model could also be applied with modification for other cancers.

Child↗

[The effects of matrine on cell proliferation and telomerase activity in retinoblastoma cells in vitro].

OBJECTIVE: To evaluate the effects of matrine on cell proliferation and telomerase activity in retinoblastoma cells in vitro. METHODS: HXO-Rb44 cells were treated with 0.1 to 3.2 mmol/L matrine for 24 h, then cell viability was measured by MTT assay. Apoptosis rates were evaluated by flow cytometry and TUNEL assay after the cells were treated for various durations. The telomerase activity were measured by telomeric repeat amplification protocol. RESULTS: MA inhibited the growth of HXO-Rb44 cells. Ma induced the apoptosis and down-regulated the telomerase activity of HXO-Rb44 cells, which were time dependent. There was a positive correlation between the telomerase activity and the apoptosis (r = -0.961, P < 0.01). CONCLUSIONS: Ma can induce the apoptosis and down-regulate the telomerase activity of retinoblastoma cells, which may be one of important mechanisms to inhibit the cell proliferation. It suggests that Ma may be a potent drug for the treatment of retinoblastoma.

Alkaloids↗

[The genetic engineering animal models of retinoblastoma].

The article summarized the latest progress of retinoblastoma animal models using transgenetic engineering technology, and discussed the mechanism of Rb production. According to the the established animal models using current genetic engineering, the dysfunction of Rb1 gene is not the only gene in response to the development of Rb, multiple genes abnormal are required.

Animals↗