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At least 343 records · Page 19Linked to original sources
PubMed1998

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.

Mutations in the trabecular meshwork induced glucocorticoid response protein (TIGR) or myocilin (MYOC) has recently been shown to cause juvenile onset primary open angle glaucoma (JOAG). In this study, we identified two new mutations (Asp380Ala and Ser502Pro) in two British families and another (Pro370Leu) in a French-Canadian family. These mutations were not present in a total of 106 normal chromosomes. In another Turkish family with JOAG, we also detected a sequence variant that was proven to be an amino acid polymorphism (Arg76Lys). No other sequence changes were found in the entire coding region and splice junctions of the TIGR/MYOC gene in this family. However, it is still possible that mutations either in the TIGR promoter or in another neighbouring gene could cause glaucoma in this JOAG family. Our results confirm the role of the TIGR/MYOC gene in the aetiology of the JOAG phenotype.

Adolescent↗
PubMed1979

Intraspinal metastases from retinoblastoma.

Cerebrospinal fluid seeding is a well-known mode of metastasis for intracranial neoplasms such as medulloblastoma, ependymoma, and glioblastoma; however, retinoblastoma is not usually considered. The route of spread appears to be by direct extension into the optic nerve from the retina and into the meningeal spaces by extension from the choroid, or along the central retinal vessels to the subarachnoid space. Four cases are presented.

Child, Preschool↗
PubMed1984

Monocytic sarcoma of the sclera.

A patient with acute monocytic leukaemia and gross ocular involvement successfully treated with local irradiation is described. Leukaemic infiltration of the sclera developed at a time when the patient appeared to be in haematological remission. Despite the frequency of extramedullary disease in monocytic leukaemia the diagnosis of monocytic sarcoma may be very difficult.

Aged↗
PubMed1977

Effects of radiation after enucleation without implantation on orbital development of patients with retinoblastoma.

Orbital growth of the patients treated with enucleation and radiation in infancy for retinoblastoma was studied by roentgenographic measurements. The patients radiated following enucleation without implantation were found to be many in the present series, and the effects of radiation and the insertion of an implant to the development of the orbit in infancy were discussed. Judging from the results of statistical analysis of roentgenographic measurements of the orbit, growth retardation of the orbit radiated after enucleation was greater than that of the orbit only enucleated. Radiation therapy after enucleation for intraocular malignant tumor in infancy should be avoided as much as possible unless the extrascleral invasion is found at operation.

Child, Preschool↗
PubMed1978

Optic nerve changes in chorioidal malignant melanoma.

The optic nerve has been investigated in 11 cases of chorioidal malignant melanoma. 10 cases showed central fascicular degeneration surrounded by a rim of myelinated nerve fibers. Microglia was regularly found demarkating the central changes and often within the demyelinated areas. The changes were found within all quadrants of the nerve and without any apparent correlation with defects in the visual field.

Choroid Neoplasms↗
PubMed1980

Melanocytoma of the optic disc.

On the occasion of the observation of 4 cases of melanocytoma of the optic disc, the authors stress the relative rarity of this pigmented tumor, its benignity and its frequent association with a choroidalnevus. The melanocytoma is mostly stationary and produces no functional symptoms. It is generally diagnosed after the age of 30, and its pathogenesis is unknown.

Adult↗
PubMed1980

Late extraocular tumours in retinoblastoma survivors.

Radiogenic or non-radiogenic osteosarcomas were found in approximately 15% of the observed bilateral retinoblastoma cases, and only exceptionally in the unilateral cases. Such osteosarcomas are also seen in subjects without retinoblastoma, but belonging to affected families. Late second malignant extraocular tumours were only observed when we were dealing with a germinal mutation, that is in hereditary retinoblastoma. They are due to a pleiotropic effect of a single gene situated on the chromosome D13 (q14), or to two different but very close genes.

Adolescent↗
PubMed2003

Influence of photodynamic therapy on expression of vascular endothelial growth factor (VEGF), VEGF receptor 3, and pigment epithelium-derived factor.

PURPOSE: To evaluate the impact of photodynamic therapy (PDT) on expression and distribution of vascular endothelial growth factor (VEGF), VEGF receptor (VEGFR)-3, and pigment epithelium-derived factor (PEDF). METHODS: Eyes of patients scheduled for enucleation due to untreatable malignancy served as study eyes (n = 4), age-matched donor eyes were used as the control (n = 4). PDT using verteporfin with the recommended standard parameters was applied to intact areas of the perimacular region. Lesions were classified by ophthalmoscopy, fluorescein angiography (FA), and indocyanine green angiography (ICGA), as well as light and electron microscopic (LM/EM) histology. Immunolabeling using specific antibodies against VEGF, VEGFR-3, and PEDF was performed in PDT-treated areas, untreated collateral areas in study eyes, and untreated areas of control eyes. Specimens were fixed in 4% paraformaldehyde and 1% glutaraldehyde and embedded in paraffin. Four-micrometer-thick sections were stained using the peroxidase-labeled streptavidin-biotin method. RESULTS: All PDT-treated areas demonstrated characteristic choroidal hypofluorescence by FA and ICGA. LM/EM histology revealed selective damage of choriocapillary endothelial cells. VEGF was expressed in the endothelial layer of choriocapillaries and focally within larger choroidal vessels in treated areas, but not in untreated areas. Sites with positive VEGF labeling also demonstrated upregulation of VEGFR-3. PEDF expression was localized to retinas in all eyes; however, PEDF staining of choroidal endothelial cells was specific for treated areas of study eyes. CONCLUSIONS: PDT using verteporfin induces a reproducible angiogenic response in elderly human eyes. VEGF, VEGFR-3, and PEDF expression is enhanced after PDT. Choroidal endothelial cells appear to be the primary site of angiogenic stimulation.

Aged↗
PubMed2005

Expression of immunoglobulin transcription factors in primary intraocular lymphoma and primary central nervous system lymphoma.

PURPOSE: Several B-cell-associated transcription factors and their coactivators, including BCL-6, BSAP/PAX5, BOB.1/OBF.1, Oct.2, MUM1/IRF4, and PU.1, have been detected in peripheral B-cell lymphomas. There are limited data on their expression in centrally located lymphoid neoplasms, such as primary intraocular lymphoma (PIOL) or primary central nervous system lymphoma (PCNSL). PIOL is a rare non-Hodgkin lymphoma, considered a subtype of PCNSL. Both are usually diffuse, large B-cell lymphoma (DLBCL), rarely manifest outside the CNS, and carry a poor prognosis. METHODS: Tissue biopsy specimens were examined from eight cases of PIOL and 42 cases of HIV-negative PCNSL, as well as 50 cases of peripheral DLBCL, for the above-mentioned transcription factors and for immunoglobulin heavy and light chains, using immunohistochemistry. RESULTS: Immunoglobulin expression was demonstrated in 46 (92%) of 50 cases of PIOL/PCNSL but in only 27 (54%) of 50 cases of peripheral DLBCL. Positivity for BOB.1/OBF.1 and Oct.2 was observed in all immunoglobulin-expressing PIOL and PCNSL. BSAP/PAX5 expression occurred in 98% of PIOL/PCNSL, and MUM1/IRF4 immunoreactivity in 45 (90%) of 50 of these cases. PU.1 expression was observed in only 10% of the PIOL/PCNSL group in contrast to 23 (46%) of 50 peripheral DLBCLs. Aberrant coexpression of MUM1/IRF4, PAX5, MUM1/IRF4, and BCL-6 was observed in most PIOLs/PCNSLs. CONCLUSIONS: These data provide further support to the notion that peripheral and centrally located DLBCLs differ in clinical, immunophenotypic, and genotypic features, despite their similar morphologic characteristics. PIOL and PCNSL tumor cells are most likely to be derived from mature B-cells that have undergone the germinal center reaction.

Central Nervous System Neoplasms↗
PubMed1985

Tissue distribution and biochemical properties of an ocular melanoma-associated antigen.

A screening method is described to select monoclonal antibodies (Mabs) that bind to ocular melanoma-associated antigens (MAAs) retained in formalin-fixed, paraffin-embedded tissue sections. Small sections of epithelioid or spindle-cell-type uveal melanomas were cut into 2 mm cubes and reembedded in one block. Microslides were cut from this block and used to screen hybridoma supernatant fluid. Using this screening method, three MAbs were selected from two separate fusions of mouse myeloma cells with spleen cells of mice immunized previously with either ocular melanoma cells obtained fresh at enucleation or cells of a cutaneous melanoma cell line. Although all three MAbs showed similar specificities, MAb8-1H showed the strongest immunohistochemical reaction and was studied further in detail. MAb8-1H bound to 91% (71/79) of the choroidal or ciliochoroidal melanomas tested, indicating a high prevalence of this antigen in uveal melanomas. The antigen defined by MAb8-1H was isolated, purified, and partially characterized as a 40,000-50,000 dalton, highly glycosylated protein rich in glycine, serine, and glutamic acid, as is typical of a mucin-type glycoprotein.

Antibodies, Monoclonal↗
PubMed1993

Modulation of retinoblastoma cell characteristics by hexamethylene bis-acetamide and other differentiating agents in culture.

The undifferentiated Y-79 retinoblastoma cell line can be induced by specific agents to express characteristics of mature retinal cells. In the present study, attached Y-79 cell cultures were treated with hexamethylene bis-acetamide (HMBA) and other differentiating agents and examined for "neuronal" and other properties. Immunocytochemical staining was performed with antibodies against neuron- and retina-specific antigens, [synaptophysin, interphotoreceptor retinoid-binding protein (IRBP), neural cell adhesion molecule (N-CAM), and rod- and cone-specific transducin (TR alpha and TC alpha)] and microtubule-associated protein (MAP-1) and tubulin. Enhanced expression of tubulin was observed with cAMP treatment in FBS media. Expression of N-CAM was observed in all groups. Morphological differentiation was pronounced with HMBA and butyrate treatment, with HMBA inducing increased tubulin expression after 2 weeks of treatment. Expression of TR alpha was minimal under all culture conditions, whereas TC alpha was ubiquitously expressed. This supports the concept that Y-79 retinoblastoma is predominantly of cone neuronal origin and that, surprisingly, immunocytochemical differentiation is not correlated with the marked morphological changes induced by the major differentiating agents used.

Acetamides↗