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At least 127 records · Page 7Linked to original sources
PubMed1978

Cavernous hemangioma of the retina.

Cavernous hemangioma of the retina is recognized as a distinct clinical entity. Although neurocutaneous findings are sometimes associated with these retinal tumors, in most of the cases reported to date, systemic features have not been described. This report describes two patients with cavernous hemangioma of the retina. One had neurologic symptoms and signs that were highly suggestive of a hemangioma of the brain stem, and the other had major congenital cardiovascular anomalies. During a five-year interval, the second patient had spontaneous incomplete sclerosis of the retinal hemangioma.

Adult↗
PubMed1979

Giant papillary conjunctivitis with ocular prostheses.

In seven patients who each had either a methyl methacrylate corneal shell, a postenucleation ocular prosthesis, or a keratoprosthesis, giant papillary conjunctivitis of the tarsus of the upper lids developed after prolonged wear. These cases expand the spectrum of disease that was initally described in wearers of hard and soft contact lenses. The papillary changes in prostheses wearers did not always produce symptoms and were not readily reversible. Basophils and mast cells characterized the inflammatory infiltrate, suggestng an antigen-antibody mechanism underlying the response. Increased production of epithelial mucin, in contrast to goblet cell mucin, may play a role in producing symptoms in this syndrome.

Adolescent↗
PubMed1981

Ocular reticulum cell sarcoma. Presentation as retinal detachment with demonstration of monoclonal immunoglobulin light chains on the vitreous cells.

A 61-year-old man with a history of cerebral reticulum cell sarcoma-microglioma (histiocytic lymphoma) in remission was initially seen with uveitis and exudative retinal detachment. Pars plana vitreous biopsy established the diagnosis by cytologic findings and allowed the immunofluorescent demonstration of a monoclonal immunoglobulin within the vitreous cells. Direct immunofluorescent microscopy of the vitreous infiltrate may prove to be of benefit in the workup of patients with uveitis in whom malignant lymphoma must be excluded.

Brain Neoplasms↗
PubMed1982

Ocular adnexal lymphoid tumors. Correlative ultrastructural and immunologic marker studies.

Twenty-two ocular adnexal lymphoid infiltrates were analyzed by electron microscopy as well as immunologically and cytochemically. Five reactive polyclonal lesions were found to be preponderantly composed of small mature lymphocytes (presumably T cells) with clumped nuclear chromatin, sparse cytoplasmic organelles, and numerous monoribosomes. In 11 monoclonal B-cell lesions, both the 1-micrometer plastic sections examined by light microscopy and the electron micrographs disclosed immature cells, with more dispersed nuclear chromatin, prominent nucleoli, abundant cytoplasmic polyribosomes, and increased numbers of mitochondria and strands of endoplasmic reticulum particularly in plasmacytoid lesions). The remaining six monoclonal B-cell lesions were composed of comparatively well-differentiated cells requiring electron microscopy to show somewhat more prominent nucleoli, slightly less dense clumping of the nuclear chromatin, increased numbers of mitochondria and short segments of rough-surfaced endoplasmic reticulum, and monoribosomes rather than polyribosomes. The importance of distinguishing this group of well-differentiated monoclonal lesions from the less well-differentiated ones was underscored by the results of the follow-up examinations, in that no evidence of extraorbital disease has been discovered in the former group, while a 50% incidence occurred in the latter.

Adolescent↗
PubMed1982

Bilateral retinal metastases from cutaneous malignant melanoma.

To our knowledge, only nine cases of retinal metastases from a primary cutaneous melanoma have been reported in the literature. A 44-year-old man had bilateral retinal metastases and choroidal metastasis documented clinically with color photography and fluorescein angiography. When ocular metastases occur, they usually are preceded by a known diagnosis of the skin lesion, usually of the superficial spreading type, with dermal invasion and widespread visceral and CNS involvement.

Adult↗
PubMed1984

Metastatic patterns of retinoblastoma.

Of 23 cases of metastatic retinoblastoma treated between 1922 and 1979, seven had metastases limited to the cranial vault and 13 had cranial metastases plus distant metastases. Globe pathology showed invasion of the optic nerve and/or the choroid in all but two patients, but was not predictive of the metastatic pattern. Initial signs of metastases were neurologic impairment and an orbital or body mass; first symptoms were anorexia or weight loss, vomiting, and headache. Most cases occurred by 3 years of age. Death occurred within 5.8 months on the average, despite therapy. Useful tests for determining the extent of disease were bone marrow aspiration, lumbar puncture, skull films, EEG, and brain scan. Computed tomographic scans of the head, bone scans, bone marrow aspiration, automated blood chemistry analysis, and lumbar puncture with immediate ethyl alcohol processing should prove to be useful to detect metastatic disease.

Bone Neoplasms↗
PubMed1991

Heritable retinoblastoma and pinealoma.

A fourth case of bilateral retinoblastoma (RB) associated with pinealoma was identified among 56 patients with heritable RB. Using life-table analysis, the association was 5.6% 2 years after RB diagnosis. Retinoblastoma-pinealoma (RB-P) was uniformly fatal in this series and in 40 additional patients described in the literature. Ninety-five percent of patients with RB-P had bilateral RB, a positive family history of RB, or both. All patients with pinealoma presented with symptoms of increased intracranial pressure due to obstructive hydrocephalus. The advanced stage of the tumors at diagnosis may contribute to their uniform lethality. The incidence of a positive family history of RB in patients with pinealoma was higher than expected (62% of patients), which may be related to earlier surveillance and treatment of patients with positive family histories of RB.

Brain Neoplasms↗
PubMed1993

Pseudo low penetrance in retinoblastoma. Fortuitous familial aggregation of sporadic cases caused by independently derived mutations in two large pedigrees.

OBJECTIVE: The disparate occurrence of few cases of retinoblastoma in the same extended pedigree confronts us with the unsolved problem of a low-penetrant autosomal-dominant trait vs fortuitous familial aggregation of sporadic cases. Determination as to whether the disease arises from a common inherited mutation or sporadic mutations has important implications for genetic counseling. This is illustrated in this report of two presumed low-penetrant retinoblastoma pedigrees characterized by two distantly affected relatives connected through apparently healthy carriers. DESIGN: We mathematically modeled the inheritance patterns and calculated the a priori relative probabilities of heredity with low penetrance vs chance occurrence of independent mutations for each pedigree. The derived odds clearly show that the disease, which occurred twice in each family, most likely resulted from unrelated mutations. To prove this, extensive DNA testing was conducted, including determination of intragenic RB1 DNA sequence polymorphisms and screening for mutation using the polymerase chain reaction coupled with single-strand conformation polymorphism analysis. PATIENTS: All living key members from both pedigrees were included. RESULTS: Consistent with our initial expectation, there was no common intragenic haplotype or common germ-line mutation that segregated with the disease phenotype in either of these two families. CONCLUSIONS: We therefore conclude that collateral incidence of retinoblastoma in these two pedigrees occurred by chance and not according to autosomal-dominant inheritance with low penetrance. Furthermore, our data provide the first evidence, to our knowledge, that related individuals may have independent mutations involving an identical gene locus, giving rise to an artefactual inheritance pattern.

Child, Preschool↗
PubMed1995

Retinoblastoma. Cell of origin.

OBJECTIVES: To apply modern techniques of molecular cell biology and to revisit the old question of the cell of origin for retinoblastoma in hopes of gaining a better understanding of the retinoblastoma gene's antioncogenic mechanisms. METHODS: Twenty-two consecutively accessed retinoblastomas were examined with immunocytochemical techniques for numerous retinal proteins. Both single and double labeling were used. Enzyme histochemistry for carbonic anhydrase was used as well. RESULTS: Differentiated areas of the tumors contained abundant Müllerlike cells. Fleurettes stained mostly for red and green cone-specific antibodies while features of blue cones and rods predominated in areas with high cytoplasmic-to-nuclear ratios but no fleurettes. All of the differentiated neoplastic cells were either photoreceptors or Müller's cells. No other retinal cell types were found. CONCLUSIONS: The cells of retinoblastoma are capable only of bipotential differentiation, ie, Müller's cells and photoreceptors. Given this and recent findings concerning retinal embryogenesis, we argue for the rod photoreceptor as the cell of origin. A possible role for the retinoblastoma gene product is discussed.

Cell Differentiation↗