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At least 1,153 records · Page 64Linked to original sources

Retinoblastoma tells the story of our health care system.

OBJECTIVE: To review cases of retinoblastoma. SETTING: Department of Pathology Aga Khan University Hospital Karachi. METHOD: Twenty-three specimens from cases of retinoblastoma received over a period of eight years were routinely processes and stained with haematoxylin and Eosin stain. Other stains were used for tuberculoses and melanin. Immunochemistry was resorted to in undifferentiated tumors. RESULTS: Over 60% cases of retinoblastoma were diagnosed after 5 years and nine cases showed involvement of optinerve. CONCLUSION: Late diagnosis of retinoblastoma effects the stage of the tumors and the prognosis.

Child, Preschool↗

[Postradiation atrophy of anophthalmic orbit after treatment of retinoblastoma. System of surgical rehabilitation].

A system of surgical treatment of patients with radiation atrophy of orbital tissues has been developed in order to attain a stable position of the prosthesis in the cavity and improve the patients' appearances. A total of 366 interventions were performed in 242 patients. The operations were as follows: formation of conjunctival cavity by autotransplants of the mucosa from the lips (242), delayed plasty of the stump (81), contour plasty of the temple and external edge of the orbit (32), correction of eyelids (11). Single-stage treatment was carried out in 156 patients and 2-7 stages in 86 patients. Positive results were attained in all cases: the depth of the vault increased, lagophthalmos decreased, falling-in defect of prosthesis, eyelids, and temple were reduced, and stable position of the prosthesis in the cavity was attained. Surgical treatment of this condition differs greatly from plastic repair for other diseases because of changes in tissues after radiotherapy. Functional and cosmetic rehabilitation of patients with postradiation atrophy of orbital tissues after treatment of retinoblastoma with good effect can be attained only by staged surgical treatment.

Adolescent↗

Peripheral retinal angioma presenting as macular pucker--case report.

A 36-year-old Taiwanese male, who denied any history of ocular trauma, intraocular inflammation or surgery, had a macular pucker associated with a peripheral retinal angioma. The yellow-white macular pucker, which extended from the temporal disc to the macular area, was thicker and with more prominent retinal striaes than found among the elderly. Regression of the macular pucker did not occur with incomplete laser photocoagulation of the angioma. Retinal angioma should be considered in the differential diagnosis of macular pucker without posterior vitreous detachment (PVD) in healthy young patients. Management of this association is primarily complete obliteration of the angioma.

Adult↗

Spider angiomas are not found in the retina of patients with cirrhosis.

To determine the prevalence of spider angiomata in patients with cirrhosis, the factors influencing them and whether or not they are present in the retina of patients with cirrhosis, 93 cirrhotics were studied. Cutaneous spider angioma were seen in 19 (20%) patients. All patients with spiders had at least one episode of variceal bleeding and had grade III or IV oesophageal varices. Spiders were seen more commonly in patients with alcoholic cirrhosis than in those with non-alcoholic cirrhosis (53.5% vs 6%, p < 0.001), in patients with Child's C cirrhosis than those with Child's A and B cirrhosis (67% vs 4%, p < 0.001). However, although spiders were seen more often in patients undergoing sclerotherapy than those not, the difference was statistically not significant (23% vs 19%, p = NS). Spiders had no association with presence or absence of portal hypertensive gastropathy or gastric varices. None of the patients showed any abnormality or presence of spiders in the retina. It is concluded that spider angiomas are seen more commonly in patients with alcoholic cirrhosis, those with more severe liver disease and patients having large oesophageal varices and they are not seen in the retina of patients with cirrhosis.

Adult↗

Sonographic, CT, and MR imaging findings in diffuse infiltrative retinoblastoma: report of two cases with histologic comparison.

SUMMARY: Diffuse infiltrating retinoblastoma is a rare form of retinoblastoma. We report two cases of this disease in which sonographic, CT, and MR imaging findings were compared with histologic studies obtained after enucleation. Although nonspecific, MR imaging provides valuable morphologic data for the diagnosis of diffuse infiltrating retinoblastoma and may help in decisions regarding enucleation.

Child, Preschool↗

Observation of surface structure of retinoblastoma cell line.

OBJECTIVE: We study the adhesion molecules on the surface of SO-Rb50 retinoblastoma cell line. METHODS: The distribution of proteoglycans in the retinoblastoma SO-Rb50 cell line was analyzed by histochem-electron microscopy, using Colloidal Iron in combination with a series of enzyme digestions. In addition, immunohistochemistry was performed using a panel of specific antibodies including neuron specific enolase (NSE), glial fibrillary acidic protein (GFAP), S-100 protein, fibronectin, laminin, and collagen IV. RESULTS: Immunohistochemical stains showed the most marked cytoplasmic reactivity of SO-Rb50 cells with anti-NSE and anti-S100. The cells member and surface was postive with anti-NSE. No reactivity was noted with antibodies against laminin, GFAP, and collagen IV. After incubated with colloidal iron solution, three types of colloidal iron-positive stained material could be distinguished based on differences in shape, size, electron density: (1) electron dense particles, (2) the larger colloidal iron-positive filaments, (3) the smaller colloidal iron-positive filaments, which were observed present on the tumor cells surface and in the extracellular matrix. CONCLUSION: We think that the cell surface proteoglycans is the main component of adhesion molecules of retinoblastoma, which may play a central role in mediating tumor cell adhesion to extracellular matrix and adjacent host cell.

Cell Membrane↗

[Intra-ocular non-Hodgkin's lymphoma. Diagnostic aspects].

Intraocular non-Hodgkin lymphoma often masquerades a chronic uveitis, which does however not respond to local and/or systemic immunosuppressive treatment. The anterior segment signs are usually discrete, although a hypopion may appear during evolution. The vitreous is often markedly involved. The chorioretinal lesions are variable in aspect. Subretinal infiltrates or solid retinal pigment epithelial detachments are the most characteristic fundus signs of the disease. Other fundus signs may be present, such as retinal vascular occlusions, perivasculitis, macular oedema, optic disc oedema or ischaemic optic neuropathy. The diagnosis is based on histological or cytological examination of anterior chamber material in case of hypopion, or more frequently from vitrectomy specimens or from direct biopsy of suspected fundus lesions. Polymerase chain reaction and flow cytometry can be extremely helpful in the diagnosis of intraocular lymphoma when the cytology is not conclusive.

Biopsy↗

[From gene to disease; retinoblastoma and the RB1 gene].

Retinoblastoma is caused by mutations in the RB1 gene. The penetrance is 95%, as in approximately 5% of the mutation carriers, no second somatic mutation occurs in one of their retina cells during embryonic development. Molecular diagnosis is performed by a complete scanning of the RB1 coding sequence which includes flanking intronic sequences. Approximately 85% of pathogenic mutations can be identified.

Child↗

Extraocular muscle ultrastructural pathology in the paraneoplastic phenomenon associated with retinoblastoma.

Extraocular muscle biopsies were obtained during enucleation because of advanced intraocular retinoblastoma in four patients admitted to the Service of Ophthalmology at the Caracas University Hospital. Slight limitations of ocular movements and strabismus were present in all cases. The electron microscopical analysis showed muscle fibres with slight to severe atrophy exhibiting myopathic structures as nemaline, filamentous and zebra bodies. Fibre necrosis was also observed characterized by sarcomeric hypercontraction, autophagia, sarcolemmal disruption, and mitochondrial swelling. Capillary alterations included endothelial proliferation with intraluminal infoldings and, in some cases, capillary degeneration and necrosis. A mononuclear cell infiltration formed by macrophages and scarce mast cells located next to atrophic fibres and altered capillaries was observed. Additionally, neutrophils were found around capillaries and in their wall. Cancer cells invading muscle tissue were not seen. Two different ethiopathogenic mechanisms for muscle damages seem to be present. Because of the similarity between the microvascular changes we observed and those found in the muscle compromise of several autoimmune diseases, an autoimmune component in the ethiopathogenesis of the observed capillary alterations is proposed. On the other hand, abnormalities observed in muscle fibres are very similar to those in neurogenic atrophy. This study represents the first report on an extraocular muscle paraneoplastic phenomenon associated with orbital tumours.

Child, Preschool↗

Effects of phytanic acid on the vitamin E status, lipid composition and physical properties of retinal cell membranes: implications for adult Refsum disease.

Adult Refsum disease is an inherited disorder in which phytanic acid accumulates in tissues and serum. Two hypotheses have been proposed to explain the pathogenesis of this condition. The molecular distortion hypothesis suggests that phytanic acid may alter membrane composition and structure, thereby affecting membrane function(s). The anti-metabolite hypothesis suggests that an accumulation of phytanic acid in membranes may interfere with vitamin E function. These two hypotheses were investigated by studying the effects of modulating phytanic acid and alpha-tocopherol concentrations on the fatty acid composition and certain physical parameters of cultured retinal cells. Results showed that (a) the phospholipid fraction of retinal cells readily incorporated phytanic acid, (b) the incorporation of phytanic acid increased membrane fluidity, (c) there was no competition for uptake between phytanic acid and alpha-tocopherol, and (d) the incorporation of phytanic acid did not increase the susceptibility of membranes to lipid peroxidation in vitro. These results obtained with cultured retinal cells suggest that the molecular distortion hypothesis, but not the anti-metabolite hypothesis, could explain the pathogenesis of adult Refsum disease. In vitro tissue culture models can, however, only approximate to the much more complex situation that occurs in vivo.

Adult↗

[Cured after an intraocular tumor].

We describe the psychological reactions after diagnosis and treatment of the malignant intraocular tumors: uveal melanoma and retinoblastoma. The chapter on uveal melanoma includes general consideration on the treatment of these tumors, the psychological effects on the patients, the professional and social problems, the follow-up after treatment and the results of recent studies on quality of life. For retinoblastoma we describe the treatments and results with the risk of second cancer, the follow-up of the patients, the psychological problems for parents and children and the specificity of the familial cases.

Attitude↗

Delayed diagnosis of retinoblastoma.

The aim of our study was to evaluate the age of the patient and the stage of retinoblastoma at diagnosis and to determine the time delay between the first symptoms noticed by proxy and the diagnosis of retinoblastoma. Therefore, thirty-three children between the age of zero and seven with the diagnosis of uni- or bilateral retinoblastoma were studied retrospectively. Thirty-one patients were diagnosed with advanced disease; two patients had small tumors. The mean time delay between the first clinical symptoms and the diagnosis of retinoblastoma was 3.2 months (range 2 months to 1 year). In our study most children with retinoblastoma were diagnosed with advanced disease. In some patients there was a significant time delay between the first symptoms and the final diagnosis of retinoblastoma. Better parental and environmental information regarding symptoms of retinoblastoma could help to assure earlier detection of tumors.

Calcinosis↗

Cadherin expression in the eye.

E(pithelial)-cadherin and N(eural)-cadherin are transmembrane cell-cell adhesion molecules, belonging to the subfamily of classical cadherins. The expression of E- and N-cadherin is spatiotemporally regulated and associated with a variety of normal morphogenetic events. The expression of E- and N- cadherin is also involved in carcinogenesis. E-cadherin functions as a tumor-suppressor. N-cadherin, however, is associated with cancer progression. The study of the expression pattern of E- and N-cadherin in the normal and tumorous eye is the aim of our research.

Animals↗