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Biomedical subjects

D Besch

Publications and source records attributed to D Besch.

12 recordsLinked to original sources
PubMed2006

[Choroidal effusion syndrome after embolization of an indirect cavernous sinus fistula via the superior ophthalmic vein].

Embolization of a cavernous sinus fistula (SCF) via the superior ophthalmic vein (SOV) was reported to be an almost uncomplicated procedure, even after ligature of the vein at the end of the procedure. We report about a complication of this therapy. A 58-year-old female had a successful embolization of a right indirect cavernous sinus fistula via the SOV. At the end of the operation the SOV was ligated because of the danger of bleeding. Directly after surgery she experienced general worsening of the right eye with signs of venous congestion and marked effusion syndrome. The patient underwent total heparinization to achieve an opening of venous collaterals. Under local therapy with atropine 1% eye drops a decrease of the intraocular pressure was observed. The effusion syndrome was completely resolved within 1 month. If embolization of a cavernous sinus fistula is performed via the SOV, the ligature of the vein at the end of the procedure leads to thrombosis, which can reduce the venous stream from the eye and orbit. A secondary effusion syndrome with ocular hypertension because of a ciliolenticular block situation is possible and requires appropriate therapy. It is not possible to assess the capacity and time of opening of the venous collateral system before surgery. Therefore a transient outflow disturbance should be considered.

Carotid-Cavernous Sinus Fistula↗
PubMed2005

[Genetic diseases of the eye].

The eye has always provided a diagnostic window for hereditary and acquired systemic diseases. Of the more than 6,000 known hereditary diseases, many are associated with changes of the visual system. Some are isolated genetic diseases of the eye, others are associated with additional ocular or systemic disorders (syndromes). In recent years, the recognition of genetic diseases as a leading cause of severe visual impairment in adults and in children has led to efforts to determine the underlying defects as well as to develop diagnostic and therapeutic molecular genetic tools. Also, education of ophthalmologists about these diseases will foster the prevention of and therapeutic approaches for genetic blindness. In this article, current knowledge on the clinical manifestations, aetiology and management of genetic diseases of the eye has been summarised.

Eye Diseases, Hereditary↗
PubMed2005

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

AIM: To identify novel or rare rhodopsin gene mutations in patients with autosomal dominant retinitis pigmentosa and description of their clinical phenotype. METHODS: The complete rhodopsin gene was screened for mutations by DNA sequencing in index patients. Mutation specific assays were used for segregation analysis and screening for controls. Eight patients from five families and their relatives were diagnosed with autosomal dominant retinitis pigmentosa (adRP) by means of clinical evaluation. RESULTS: Mutation screening identified five different rhodopsin mutations including three novel mutations: Ser176Phe, Arg314fs16, and Val20Gly and two missense mutations, Pro215Leu and Thr289Pro, that were only reported once in a mutation report. Electrophysiological and psychophysical testings provide evidence of an impaired rod system with additionally affected cone system in subjects from each genotype group. Visual function tended to be less affected in subjects with the Arg314fs16 and Val20Gly mutations than in the Ser176Phe phenotype. In contrast, Pro215Leu and Thr289Pro mutations caused a remarkably severe phenotype. CONCLUSION: The ophthalmic findings support a correlation between disease expression and structural alteration: (1) extracellular/intradiscal Val20Gly and cytoplasmic Arg314fs16 mutation-mild adRP phenotype; (2) Ser176Phe mutation-"mostly type 1" disease; (3) predicted alteration of transmembrane domains TM V and TM VII induced by Pro215Leu and Thr289Pro-severe phenotype. However, variation of phenotype expression in identical genotypes may still be a typical feature of RHO mutations.

Adolescent↗
PubMed2001

[Evaluation of extensive visual field defects with computer-assisted kinetic perimetry].

BACKGROUND: Conventional kinetic perimetry is of especial use in case of advanced scotoma. However, examiner dependency is a major drawback. Purpose of this study was to evaluate the clinical feasibility and intraindividual scatter of computer-assisted kinetic perimetry in monitoring advanced visual field defects of various origins. METHODS: Examinations were carried out with the Tuebingen Computer Campimeter (background lumincance 10 cd/m2). In an initial session, the localization of the scotoma border is estimated with conventional manual kinetic perimetry. In the subsequent computer assisted kinetic mode, an individually adjusted set of vectors is designed. Each vector crosses the manually assessed visual field defect border almost perpendicularly, starting approximately 3 degrees within the scotoma. Each individual set of vectors can be stored and recalled for follow-up. Stimuli move along these vectors with identical characteristics as in manual kinetic perimetry. Stimulus presentations are repeated six times in a randomized order. Patients' responses are recorded and additionally corrected for mean individual reaction time. A "local kinetic threshold" (mean) and a related parameter for dispersion (standard deviation) are assessed. RESULTS: Four subjects with advanced visual field loss of various origin (retinitis pigmentosa, vigabatrin-associated visual field defect, glaucomatous nerve fibre layer defect, and postgeniculate visual pathway defect) participated in this study. Maximal difference between manual-kinetic and automated kinetic thresholds reaches from 1.7 degrees to 5 degrees. Local scatter (standard deviation) of kinetic threshold, assessed by computer-assisted perimetry, varies between 0.1 degree and 3.0 degrees. CONCLUSION: Computer assisted kinetic perimetry is a new, useful, examiner-independent, reliable method for effective evaluation and monitoring of advanced visual field loss.

Adult↗
PubMed2000

[A case of Leber optic neuropathy with a new point mutation in the cytochrome b gene].

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is associated with mutations in the mitochondrial DNA (mtDNA). We report the clinical and molecular genetic findings of a patient who does not carry any of the common LHON mutations. METHODS: Clinical data were collected for the affected patient and two unaffected maternal family members. Complete sequence analysis of the mtDNA protein coding region was performed in the affected patient. RESULTS: Clinical examination of the affected patient showed typical features of LHON. A nucleotide exchange was detected at np14894 replacing an evolutionarily conserved phenylalanine by a leucine in the cytochrome b gene. The mutation was also present in two unaffected maternal family members, but absent in 60 other LHON lineages and 175 unrelated controls. CONCLUSIONS: Cytochrome b plays an important role in the electron transport chain of mitochondrial oxidative phosphorylation, and some mutations in the gene encoding cytochrome b have been associated with LHON. Our results may imply that the novel mutation at np14894 is responsible for LHON in this family.

Adult↗
PubMed2000

[Carcinoma-associated retinopathy: a review with clinical examples].

Cancer-associated retinopathy (CAR) is a rare paraneoplastic syndrome. In this survey we report about two further patients with CAR, who were referred to the University Eye Hospital of Tuebingen within a few months. The most common primary tumor associated with CAR is small cell carcinoma of the lung. Case reports about rhabdomyosarcoma, carcinoma of the endometrium, prostate and mamma were also described. The exact pathogenesis of CAR is still unknown. Specific autoantibodies were found against the photoreceptor protein recovering (23-kd retinal CAR antigen). However, this reaction is not present in all patients, and probably other antigens are also involved. Most of the patients experience symptoms of CAR before the primary tumor is detected. Besides glare sensitivity and flashing lights, a rapidly progressive, often asymmetric visual loss may occur. Although paracentral and mid-peripheral scotomas can be found frequently, visual field defects are often quite heterogeneous. Typically, the responses in the electroretinogram (ERG) are markedly reduced, but normal ERGs were also described. The fundus picture in CAR shows sheathing of the retinal vessels, narrowing of the arterioles and clumbing of the retinal pigment epithelium. The prognosis is poor. Frequently there is progression to bilateral loss of vision within a few months. Treatment of the primary tumor does not seem to alter the ocular prognosis. Systemic corticosteroids may be helpful in some patients. Nevertheless, no proven therapeutic regimen is currently available.

Aged↗
PubMed1999

Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.

BACKGROUND: Leber's hereditary optic neuropathy (LHON) is a maternally inherited ocular disease associated with mutations in the mitochondrial DNA (mtDNA). We describe the clinical and molecular genetic findings in a LHON patient and his family with a new mtDNA mutation at np14568 in the ND6 gene. METHODS: Ophthalmological examination was performed in one affected male and two maternal relatives. Direct sequence analysis of the complete mtDNA protein coding region was initiated in the affected patient. Four unaffected maternal relatives also underwent molecular genetic evaluation. RESULTS: Clinical examination of the affected male showed typical features of LHON. In his unaffected mother slight peripapillary microangiopathy was found. Molecular analysis did not show any of the common LHON mutations. A nucleotide exchange was detected at position 14568 replacing a glycine by serine in the ND6 gene. This mutation was the only new mutation found within the entire protein and tRNA coding region of the patient's mitochondrial genome. This novel mutation was also present in four non-affected maternal family members, but absent in 60 other LHON lineages and 175 unrelated controls. CONCLUSION: The new mutation at nucleotide position 14568 lies in the close vicinity of other LHON-related mutations (np14459, np14484, np14498, np14596) within the evolutionarily most conserved region of the ND6 gene. Since no other mutation was detected throughout the mtDNA coding region and the new alteration was excluded in controls, our clinical and molecular genetic findings suggest that the novel point mutation at np14568 is responsible for LHON in this family.

Adolescent↗
PubMed1998

The role of the peripherin/RDS gene in retinal dystrophies.

Peripherin/RDS is a transmembrane glycoprotein expressed in vertebrate photoreceptors. It is located at the rim of the disc membranes of the photoreceptor outer segments, where it is thought to play an important role in folding and stacking of the discs. Initially, the identification of a mutation in the rds mouse model defined the role of this gene in hereditary retinal dystrophies. To date over 60 different mutations have been reported in human retinal diseases, with most being restricted to single families. A characteristic of mutations in the peripherin/RDS gene is the broad phenotypic spectrum in patients, and the variability in clinical expression, even within families. Thus, genotype-phenotype correlations are difficult and only reliable for a minority of mutations.

Animals↗
PubMed1997

Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.

DNA sequence analysis of the gene encoding subunit 6 of the NADH-ubiquinone-oxidoreductase complex (ND6) in human mitochondria was performed in 25 independent patients who suffer from Lebers hereditary optic neuropathy (LHON). In 10 cases the well-known LHON mutation at nucleotide position (np) 14484 was detected. Furthermore, silent substitutions at np14167 and np14527 and missense mutations at np14498, np14564, np14568, and np14582 were found in individual patients. The np14498 and np14568 mutations were found in patients who present a typical clinical picture and course of LHON but lack any of the canonical mtDNA mutations. The np14568 mutation, which replaces a moderately conserved glycine by a serine residue, was observed in a single male patient and subsequently excluded in 175 independent controls. The mutation at np14498, which replaces an evolutionarily highly conserved tyrosine with a cysteine, was found in a multigeneration family with four affected members, the eldest carrying a heteroplasmic mixture of mutated and wildtype mtDNA molecules. None of 170 analyzed control subjects carried this mutation. These findings provide evidence that several allelic ND6 gene mutations may be involved in Lebers hereditary optic neuropathy.

Alleles↗