Biomedical subjects
Publications and source records attributed to A Balmer.
High resolution karyotype was performed in 13 retinoblastoma patients. A mosaic pattern for del(13)(q14.1;q14.3) was found in a girl with sporadic bilateral retinoblastoma and midface dysmorphism. In addition, 162 cases of 13q aberrations were reviewed, including 140 retinoblastoma patients and 22 non-penetrance 13q14 deletions. Some epidemiological and genetic involvements are discussed.
We describe a new rare allele for esterase D (EsD) occurring in a Portuguese family with retinoblastoma in two generations.
Between 1963 and 1987 admitted Lausanne University Eye Hospital 140 infants with suspected retinoblastoma. Of these, 98 (70%) were subsequently confirmed cases, while 42 (30%) were found to be suffering from a benign disorder. Among these pseudoretinoblastomas, Coats' disease was found to be the most prevalent (21%) in this study. The examination procedure is discussed and the importance of genetic research is emphasized.
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The retinoblastoma is one of the rare curable malignant tumors. Its diagnosis is usually simple, but the first signs are late in appearing and not always recognized. The reasons for delay in diagnosis are examined, and the clinical picture and treatment discussed.
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Familial aniridia is an hereditary condition with dominant transmission. The frequency of associated lesions appears to indicate that absence of the iris is only the primary sign of an anomaly of development of the entire eye, derivatives of the ectoderm being predominantly affected. The authors examined the presence of familial anridia through 4 generations, characterized by low penetration and cataract predominantly of the right eye.
In the presence of leukokoria the diagnosis of retinoblastoma is usually easy when the mediae are transparent. If they are not, however, one is frequently obliged to enucleate a painful or useless eye in order to rule out this diagnosis. In a series of eight cases having undergone enucleation for this reason at the Lausanne University Eye Hospital, the histological examination revealed four pseudogliomas. These particularly instructive cases are described, together with the histological findings.
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Retinoblastoma remains a rare disease, but still one which has an uncertain life and functional prognosis. The diagnosis is often made late because the principal signs such as leukokoria and strabismus have not been recognized, thus a conservative treatment is no longer possible. However, when treated at an early stage, a child suffering from retinoblastoma has every chance of a complete cure and even normal vision may be preserved. Irradiation therapy plays an essential role, using local radiation by radioactive applicators or by external Betatron electron beams. Based on 52 cases, the methods of treatment and the results obtained at the Ophthalmology Department of Lausanne are reported, including one case of spontaneous cure of a bilateral retinoblastoma.
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Retinoblastoma remains a rare disease, but still one which has an uncertain life and functional prognosis. The diagnosis is often made late because the principal signs such as leukokoria and strabismus are unrecognized, thus a conservative treatment is not possible. However, treated at an early stage, a child suffering from retinoblastoma has every chance of a complete cure and even normal vision may be preserved. Irradiation therapy plays an essential role, using localized radiation by radioactive applicators or by external betatron electron-beams. Based on 52 cases, the methods of treatment and the results obtained at the Ophthalmology Department of Lausanne are reported, including one case of spontaneous cure of a bilateral retinoblastoma.
Ocular radiotherapy has considerably improved during the last 60 years. It allows very often, not only to save an eye, but also to maintain a useful function. But it is only one single element, although important, in our fight against intraocular tumors.
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Short comparison between psychophysic and electrodiagnostic tests in 20 eyes with macular edema from diabetic retinopathy. De Lange's curve, the critical flicker frequency in central fixation and the macular ERG are compared with the classical EOG and global ERG data. The methodology is briefly described. It allows a new approach of the macula and the macular ERG responses confirms the clinical tests.
Retinoblastoma is a malignancy of the human developing retina. In situ as well as in vitro studies have attributed tumoral histogenesis either to a primitive retinoblast with neuronal and glial differentiation potentials, or to a photosensory progenitor cell. Here it is shown in vivo that the retinal topography of 457 retinoblastoma and retinoma foci is radially asymmetrical. Tumor density appears to mimic the horizontal visual streak characteristic of red/green cone cell distribution. Such a non-random distribution seems to invalidate the hypothesis of a primitive multipotential neuroblast as the unique source of retinoblastoma and may support the view that retinoblastoma evolves along the cone cell lineage.