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Biomedical subjects

T Streicher

Publications and source records attributed to T Streicher.

At least 19 recordsLinked to original sources
PubMed1996

Mutations in the VHL tumor suppressor gene and associated lesions in families with von Hippel-Lindau disease from central Europe.

von Hippel-Lindau (VHL) disease is a dominantly inherited familial cancer syndrome predisposing to retinal, cerebellar and spinal hemangioblastoma, renal cell carcinoma (RCC), pheochromocytoma and pancreatic tumors. Clinically two types of the disease can be distinguished: VHL type 1 (without pheochromocytoma) and VHL type 2 (with pheochromocytoma). We report VHL germline mutations and trends in phenotypic variation in families from central Europe. We identified 28 mutations in 53/65 (81.5%) families with 18 (64%) mutations being unique to this population. Whereas types and distribution of mutations as well as a strong correlation of missense mutations with the VHL 2 phenotype were similar to those identified in other populations, these families have provided new insights into the molecular basis for variability in the VHL 2 phenotype. Seven different missense mutations in exons 1 and 3 varied in their biological consequences from a minimal VHL 2 phenotype with pheochromocytoma only to a full VHL 2 phenotype with RCC and pancreatic lesion. These findings contribute to a better understanding of the fundamental mechanisms of VHL disease and its phenotypic variability. Further, we have provided rapid VHL screening for the families in central Europe, which has resulted in improved diagnosis and clinical management.

Base Sequence↗
PubMed1993

[Tortuous retinal vessels].

The authors observed an occurrence of tortuosity of retinal vessels from the group of 5,000 investigations of an ocular fundus. Elimination of all local reasons or symptoms of general diseases, even in spite of the great possibility of modification of this feature, three characteristic types were found. In two of them the familiar and hereditary occurrence was proved.

Congenital Abnormalities↗
PubMed1993

[Abnormal vessels in the iris in angiographic imaging].

During the examination of 210 eyes with blue irises by fluorescein angiography a few unusual vascular formations of the course, filling and caliber were revealed. Authors have divided them into four groups by similar angiographic pictures. Possible capillary haemangioma in connection with syndrome Sturge-Weber from the third group and angioma racemosum from the fourth group of examined irises are considered to be abnormal vessels. It is possible to state diagnosis by fluorescein angiography in many cases even without histological examination and to follow the dynamics of their possible development.

Arteriovenous Malformations↗
PubMed1992

[Hamartomas of the optic disc and adjacent retina].

The authors discuss some formations on the optic disk and close neighbourhood resembling tumours. They originate from various cellular elements in that area and are described as hamartomas. A progressive growth was recorded only in vascular hamartomas after unsuccessful therapeutic intervention, the remainder were stationary during observation periods of various lengths.

Adolescent↗
PubMed1991

[Early stages of angiomatosis of the retina and optic nerve disk].

Based on 13 years observations of three generations of relatives with v. Hippel-Lindau's disease the authors focus attention on early stages of clinically detectable retinal angiomatosis. They supplement these findings by an angioma on the optic disc in one sporadic case. They consider the ophthalmological diagnosis of priority importance for the patients and risk relatives and recommend a concept of presymptomatic screening to detect other organ sites of the disease. Early detection and treatment of lesions on eyes and other organs improves the prognosis and reduces early mortality.

Angiomatosis↗
PubMed1990

[Differentiation and prognosis of colloidal retinal dystrophy].

The authors investigated in a prospective investigation 27 patients of different age groups for 5 to 12 years with symmetrical, bilateral non-hereditary retinal drusen. The examination was focused on assessment of different types of drusen, on evaluation of the development and incidence of risk factors leading to complications and loss of central vision. The latter include the part of the spectrum of pathological manifestations in higher age groups which are included in the category of senile macular degeneration.

Adult↗
PubMed1989

[Juxtafoveolar telangiectasia and its complications].

Juxta-foveolar telangiectasias were followed in 10 patients, when only in one patient the same clinical picture has been observed in both eyes. Decrease of the central vision was heavily deteriorated in nearly all patients, with only one exception. In some patients the glucose tolerance has been outside the normal limits, therefore authors suspect some etiologic connections between both diseases.

Adult↗
PubMed1989

[Familial exudative Criswick-Schepens vitreoretinopathy].

The authors describe their own observation of a very rare form of vitreoretinal degeneration in a young man classified as familial exudative Criswick-Schepens vitreoretinopathy. The disease was detected in the second clinical stage on the right eye and in the third clinical stage on the left eye. The transmission of the disease is autosomal dominant with incomplete penetration. In the paper special emphasis is laid on differential diagnostic problems and the possibility of treatment of this disease.

Adult↗
PubMed1987

[Cogwheel maculopathy--a new form of pattern dystrophy?].

On examination, the central retinal areas of both eyes of a 44-year-old woman appeared symmetrical. So far only one other case with the same findings has been described in the literature; it was termed "cogwheel macular degeneration." Distinctive fluorescein angiographic and electrophysiological features indicate that the disease is dystrophic, primarily affecting the retinal pigment epithelium. Several criteria of the findings justify including this entity in the larger group of pattern dystrophies of the retina.

Adult↗
PubMed1982

[Hereditary drusen of Bruch's membrane. I. Clinical and light microscopical study ].

The authors describe a family with autosomal-dominant inheritance of hereditary Bruch's membrane drusen. After the death of the proband who was kept under clinical observation with fluorescein-angiographic examination over a period of seven years, the authors obtained the bulbus for histopathologic study. Light microscopic changes in the boundary-line structures of the retina and choroid and the occurrence of an intraretinal membrane in the maculopapillary bunch area are described. This membrane is thought to represent a "predisciform stage" in the development of this hereditary dystrophy.

Adolescent↗
PubMed1982

[Hereditary drusen of Bruch's membrane. II: Studies of semi-thin sections and electron microscopy results].

Examination of a bulbus from a patient with hereditary drusen of Bruch's membrane revealed gradual development of drusen from fingerlike and fungous projections of the basal membrane of the retinal pigment epithelium culminating in large deposits with a conspicuous radial and laminar arrangement. The granular material which formed the drusen contained cellular debris as well as fragments of the fibrous long-spacing collagen. Cells of the pigment epithelium proliferated as metaplastic glial cells with formation of a new stratum separating the layer of cones and rods from Bruch's membrane. Transmembranous fibrovascular proliferation from the choroid into the periretinal space was not encountered and does not seem to play a decisive role in the pathogenesis of the disease.

Choroid↗