Biomedical subjects

H Schilling

Publications and source records attributed to H Schilling.

At least 19 recordsLinked to original sources

PubMed1997

Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.

Mutations in the peripherin/RDS gene, which encodes a photoreceptor-specific membrane glycoprotein, have been identified in a variety of retinal phenotypes. However, the mechanisms by which specific mutations in this gene can cause typical features of retinal dystrophies clinically as distinct as retinitis pigmentosa or macular degeneration are still unknown. Recently, a single case of adult vitelliform macular dystrophy (AVMD) has been associated with a Y258Stop mutation. To assess the frequency of peripherin/RDS mutations in the clinically heterogeneous group of AVMD, we analyzed the entire coding region of the gene in 28 unrelated patients. We identified five novel mutations including two presumed null allele mutations. Thus, our results demonstrate that a significant portion of AVMD patients (18%) carry point mutations in peripherin/RDS, suggesting that this gene is frequently involved in the pathogenesis of this macular disorder. In addition, this study shows that the variable phenotypes in AVMD are due, at least in part, to genetic heterogeneity and are likely to be caused by mutations in disease genes thus far unknown.

Aged↗

PubMed1997

[EOG in adult vitelliform macular degeneration, butterfly-shaped pattern dystrophy and Best disease].

OBJECTIVES: We evaluated the EOG in the various stages of foveomacular dystrophy (also called adult-onset vitelliform macular dystrophy) and compared these findings to those in Best's disease and butterfly-shaped dystrophy. PATIENTS AND METHODS: The records of 49 patients (98 eyes) in whom foveomacular dystrophy had been diagnosed by ophthalmoscopy or by fundus photographs and fluorescein angiography were retrospectively reviewed. Fifty-seven eyes were followed up (range 1.1-20 years, mean 10.4 years). EOG was elicited according to the method of Rohde and Täumer. The results were compared to those in Best's disease and butterfly-shaped dystrophy. RESULTS: In foveomacular dystrophy all mean EOG values were within normal ranges. There was no difference between the various stages of the disease. In Best's disease only the dark-adapted steady-state potential was in the normal range. The amplitude and the implicit time of the light peak were significantly different from those in patients with foveomacular dystrophy (P < 0.05 ANOVA). In butterfly-shaped dystrophy all the EOG parameters were normal. The ratio of the light peak to steady-state potential was significantly lower in foveomacular dystrophy than in butterfly-shaped dystrophy. CONCLUSION: In foveomacular dystrophy the mean values of the EOG were normal. Despite the morphological similarity we found more pronounced electrophysiological differences from Best's disease than from butterfly-shaped dystrophy.

Adult↗

PubMed1997

Long-term results after low dose ocular irradiation for choroidal haemangiomas.

AIM/BACKGROUND: The most common choice of treatment for choroidal haemangiomas (CH) in the past has been the employment of scatter photocoagulation of the surface. This management often requires repetitive treatment or additional invasive management due to massive exudative detachment of the retina. The aim of this retrospective study was to investigate the outcome of the alternative application of low dose external beam irradiation with high energetic photons on these tumours. METHODS: A total absorbed dose of 20 Gy was applied to a total of 51 symptomatic eyes: 36 with a circumscribed CH of the posterior pole and 15 with diffuse CH as part of the Sturge-Weber syndrome. The indication for treatment was an exudative retinal detachment including or threatening the fovea. The mean follow up times in each group were 4.5 and 5.3 years, respectively. Out of a group of 33 patients from whom reliable data could be derived, 17 had symptoms lasting longer than 6 months. RESULTS: In 23 cases (63.8%) with circumscribed CH complete resolution of the subretinal fluid was achieved; the remaining 13 cases (36.2%) showed residual serous detachment distant to the fovea. The visual acuity improved by two or more lines in 14 cases (38.9%), remained stable in 14 cases (38.9%), and decreased in eight cases (22.2%). The functional success was dependent on the lag duration between onset of first subjective symptoms and treatment. The morphological results with diffuse CH were similar to those of the group of circumscribed CH. The visual acuity (VA) at last examination was improved in seven cases (46.6%); in the remaining eight cases, VA was unchanged or had deteriorated. The poor functional outcome in the latter was mainly attributable to secondary glaucoma. CONCLUSION: External beam irradiation is a useful and a low invasive therapeutic option for CH. A successful functional outcome is dependent on the time delay between first onset of symptoms and the beginning of therapy, the formation of subretinal fibrosis, and also on secondary glaucoma in the case of Sturge-Weber syndrome.

Adolescent↗

PubMed1997

A histologic study (including DNA quantification and Ki-67 labeling index) in uveal melanomas after brachytherapy with ruthenium plaques.

PURPOSE: To investigate the proliferative potential and DNA damage in uveal melanomas treated by brachytherapy. METHODS: Forty-two enucleated eyes that had been treated with 106Ru/106Rh radioactive plaques for uveal melanoma were subgrouped according to the extent of irradiation damage. Cell proliferation was determined by immunoreactivity for the proliferation marker Ki-67 (Mib-1) and ploidy by quantitative DNA image analysis. Thirty globes containing uveal melanomas without prior brachytherapy served as a control group. RESULTS: The values for Ki-67 reactivity and ploidy could be correlated with radiation-induced changes within the tumors. In regions of the tumor where complete exposure to the prescribed radiation dose was assumed from the histologic findings, the Ki-67 index was close to or equal to zero. Hypoploidy was exclusive to irradiated tumors and was most often detected in effectively irradiated regions. Tumor regions classified as partially irradiated or recurrent showed an increase of Ki-67 indices and DNA content. Values obtained in recurrent tumors did not significantly differ from the control group. CONCLUSIONS: Tumor cell proliferation and variations in ploidy status could be detected after brachytherapy, but the response varied markedly both within individual tumors and within the irradiated group. Evidence of persisting proliferative potential could be obtained in ostensibly sterilized tumor tissue, but a negligible Ki-67 index and the presence of hypoploidy were considered to be reliable indicators for radiation-induced loss of proliferative potential.

Brachytherapy↗

PubMed1996

[Observations of different presentations of choroid neovascularization in indocyanine green angiography].

The interpretation of choroidal neovascular membranes (CNV) in indocyanine green angiography (ICG-A) is difficult. It is not known whether demarcated hyperfluorescence in the ICG-A reliably reflects the true morphology and the total extent of a CNV. Therefore, in this retrospective study, the patterns of fluorescein and ICG angiograms were evaluated and compared in both occult and well-defined CNV. In 153 out of a total of 168 cases with CNV, age-related macular degeneration (AMD) was the underlying disease. CNV was occult in 114 and well-defined in 39 cases. The angiographic examinations with both dyes were performed with a modified fundus camera combined with a digital imaging system. In the group of AMD patients with occult or ill-defined CNV. 42 cases (36.8%) showed a defined membrane in the ICG stain. The filling patterns of ICG were extremely variable. In the group of AMD patients with classic CNV, ICG-A showed evidence of staining in the early and late phase in 14/39 cases (36%), exclusively in the early phase in 5/39 (13%) cases and only in the late phase in 17/39 cases (44%). Surprisingly, three well-defined membranes in fluorescein angiography (FLA) were not seen in any phase of the ICG-A. Compared with FLA, the 17 CNVs with demarcation only in the late phase of the ICG-A were seen to be larger in 8 and smaller in 9 cases while all CNVs seen in the early phase, or in both early and late phase, were of identical size with the early fluorescein staining. The pattern of ICG staining of CNV is complex. The single finding of a demarcated hyperfluorescence in the late phase of ICG-A should be interpreted with utmost caution, particularly in regard to planning laser therapy.

Aged↗

PubMed1996

[Long-term outcome of radiotherapy of choroid hemangioma].

The usual therapeutic approach to circumscribed choroidal hemangiomas of the posterior pole consists of scatter photocoagulation of the tumor surface. This may often require repetitive treatment or additional invasive measures prior to coagulation due to massive exudative detachment of the retina. In this study, external beam irradiation with high-energy photons (total absorbed dose: 20 Gy) was applied to 36 symptomatic patients. The indication for treatment was exudative retinal detachment including or threatening the fovea. The mean duration of follow-up was 4.5 years (4 months to 24 years, median 4 years). In 23 cases (63.8%) complete resolution of the subretinal fluid could be achieved; 13 cases (36.2%) showed residual serous detachment at some distance from the fovea. The visual acuity improved by two or more lines in 14 cases (38.9%), remained stable in 14 cases and decreased in only 8 cases (22.2%). The functional success was dependent on the interval between onset of first subjective symptoms and treatment. External beam irradiation is a successful form of treatment for choroidal hemangiomas.

Adult↗

PubMed1996

[Late vision loss after focal hemorrhagic chorioretinopathy].

Prospective clinical studies about photocoagulation of extrafoveolar choroidal neovascularizations in focal hemorrhagic chorioretinopathy (CR) have demonstrated that the risk of visual loss years after successful treatment is related to the development of retinal pigment epithelium (RPE) atrophy around the laser scar. The reason for this event was thought to be late damage of RPE cells due to the laser treatment. However, because RPE atrophy can also be seen in untreated patients, a prospective study was started to test this pathogenetic hypothesis and to analyze the pathogenetic factors and prognostic importance of RPE atrophy in focal hemorrhagic CR. Eighty-eight patients (52 women, 36 men, 15-45 years old; mean follow-up 62 months; 26 patients treated by photocoagulation) with focal hemorrhagic CR were reexamined. Fifty-two patients (15 treated by photocoagulation and 37 untreated) showed clinically visible RPE atrophy. In these 52 patients the initial and final visual acuity, the amount of initial subretinal fluid (34.6% < 500 microns, 50% 500-750 microns, 15.4% > 750 microns) and the amount RPE atrophy (23.2% < 500 microns, 53.6% 500-750 microns, 23.2% > 750 microns) were analyzed. The development of RPE atrophy was dependent on the time of follow-up (36 patients without RPE atrophy, mean follow-up 29 months; 52 patients with RPE atrophy, mean 84 months, P < 0.001). Of the 52 patients with RPE atrophy, 15 were treated by photocoagulation. The distribution of RPE atrophy was similar to what was found in the 37 untreated patients (P = 0.4). With pronounced RPE atrophy, a decrease in final visual acuity was seen (RPE atrophy < 500 microns, mean visual acuity 0.5; 500-750 microns mean visual acuity 0.3; > 750 microns, mean visual acuity 0.1; P = 0.005). Increased RPE atrophy was also associated with a higher incidence of visual loss (p = 0.009). The amount of RPE atrophy was not dependent on the time of follow-up (P = 0.3), but only correlated with the initial amount of subretinal fluid (atrophy < 500 microns: subretinal fluid < 500 microns 15.4%, 500-750 microns 7.7%, > 750 microns 0%; atrophy 500-750 microns: subretinal fluid < 500 microns 19.2%, 500-750 microns 32.7%, < 750 microns 1.9%; atrophy > 750 microns: subretinal fluid < 500 microns 0%, 500-750 microns 9.6%, > 750 microns 13.5%; P < 0.0001). Because RPE atrophy in focal hemorrhagic CR was seen in patients both with and without photocoagulation therapy, laser treatment cannot be the causative factor. With increased follow-up the risk of the development of RPE atrophy increases in all patients. The resulting amount of RPE atrophy was only dependent on the initial amount of subretinal fluid. If the fovea is included in the exudative detachment, there is a higher risk of long-term visual loss.

Adolescent↗

PubMed1996

[Treatment with tissue plasminogen activator (tPA) in risk patients with fibrin reactions after cataract operations].

The postoperative course after cataract surgery can be complicated by the formation of severe fibrinous membranes, especially in cases with previous goniotrepanation, after syn echiolysis, iridotomy or iris suturing, and in patients with diabetes or uveitis. This study retrospectively analyzes the efficacy of intraocular tissue plasminogen activator (tPA) for fibrinolysis in these conditions commonly considered as contraindications to tPA therapy. When antiinflammatory therapy was unsuccessful in lysing fibrinous membranes, 10 micrograms of tPA (Actilyse) was injected into the anterior chamber following the first postoperative day (n = 15). In addition, topical corticosteroids and cycloplegics were given postoperatively. Lysis of the fibrinous membranes was achieved in all patients. However, in three cases lysis was incomplete or recurred. Complications of intraocular tPA therapy consisted of mild hyphema (n = 1) and transient dysfunction of the corneal endothelial cells (n = 2). In conclusion, the results suggest intraocular low-dose tPA as an effective approach for the treatment of severe fibrinous membranes after cataract surgery even in high-risk patients.

Adolescent↗

PubMed1996

[Pathological examination of 10 eyes with silicone oil injection].

OBJECTIVE: To find the histopathologic findings about 10 eyes of 10 patients with silicone oil injection. METHODS: The operative procedures included retinal detachment surgery, pars plana vitrectomy and silicone oil injection. The globes were enucleated 4 to 27 months after silicone oil injection. Paraffin sections were made for light microscopic examination. RESULTS: The retina showed severe degeneration, pre- and sub-retinal membranous fibrous tissue proliferation. The round empty vacuoles formed by silicone oil could be seen in the proliferative membrane. CONCLUSIONS: It is demonstrated that silicone oil has great toxic effect to the detached retina and it may stimulate the development of proliferative vitreoretinopathy.

Adolescent↗

PubMed1995

Embryo brain kinase: a novel gene of the eph/elk receptor tyrosine kinase family.

A new gene belonging to the Eph/Eck/Elk receptor tyrosine kinase family has been cloned from mouse brain. The gene maps to mouse chromosome 4. In the adult brain it is expressed exclusively and abundantly in the hippocampus. We propose to name it Ebk (embryo brain kinase), as in situ hybridisation shows expression in many parts of the developing mouse brain. The most abundant expression is in the subcommissural organ, and the earliest expression is in the forebrain neural folds, in rhombomeres 2-6, and in somites and heart. Other regions positive at various stages include the cochlear duct, trigeminal ganglion, lung, first branchial arch, and tooth primordia. Also positive are areas of mesenchyme underlying various epithelia during morphogenesis, especially in the mouth and nose, as well as in the eyelids and toes. We compare these patterns with the available data on the 12 other known members of this gene family. Most of them, like Ebk, are expressed in brain (especially adult hippocampus and embryonic rhombomeres) and in organs rich in epithelia (especially lung), although the spatial and temporal patterns differ. We suggest that combinatorial patterns of these receptors act as labels for the regional identity of neurons and epithelia, and could mediate fine control of neurite pathfinding and epithelial morphogenesis.

Aging↗

PubMed1994

Histopathologic findings in large uveal melanomas after brachytherapy with iodine 125 ophthalmic plaques.

Eyes of 25 patients among a series of 100 consecutive patients who underwent iodine 125 brachytherapy for extremely large uveal melanomas measuring more than 7-8 mm in height had to be enucleated after an average interval of 1.4 years. The dose delivered to the tumor apex was 120-150 Gy. Indications for enucleation were most frequently radiation-induced alterations in the anterior segment with loss of fundus visibility. Eight cases showed insufficient tumor regression, and two cases were suspicious for growth. Microscopically complete tumor necrosis was found in ten eyes. Six cases were classified as "uncertain tumor regression." Apparently "viable" tumor cells were seen in nine eyes. This group of eyes showed a significantly shorter interval between therapy and enucleation. One specimen showed extraocular tumor extension. Brachytherapy with iodine 125 may result in complete tumor necrosis, even in large uveal melanomas. The morphologic extent of tumor necrosis seems to be positively correlated with the interval after therapy.

Aged↗

PubMed1994

[Focal hemorrhagic chorioretinopathy. Clinical differentiation and visual prognosis].

Macular choroidal neovascularization in young adults without any known underlying diseases is referred to under the general term of focal hemorrhagic chorioretinopathy. In endemic areas of the USA an infection with Histoplasma capsulatum is thought to be the causative agent, but in Europe the pathogenesis of this condition is unknown. With the aim of finding how European patients with this disease might be detected by clinical examination and to estimate the prognosis for sight in the affected eye and the fellow eye, a follow-up examination (follow up 1-24 years, mean 7 years) of 88 patients (age 15-48 years, mean 33.6 years) was undertaken. Most patients were between 20 and 40 years of age and mildly myopic. The number of chorioatrophic scars associated with the choroidal neovascularization in particular varied widely between patients. Therefore, this characteristic is most useful for clinical differentiation between patients. In contrast, the development of an atrophic conus at the optic disc was predominantly correlated with worsening myopia. One-third of all patients experienced decreased vision during follow-up. In two-thirds of the group, however, the final vision was still 0.1 or better. The initial visual prognosis in the eye affected was predominantly dependent upon the location of the neovascular membrane in relation to the fovea and therefore upon the possibility of photocoagulation treatment. Long-term follow up in these patients revealed visual acuity decreased further only in eyes with increasing atrophy of the retinal pigment epithelium surrounding the disciform or laser scar. One-fifth of the patients also developed choroidal neovascularization in the fellow eye.(ABSTRACT TRUNCATED AT 250 WORDS)

Adolescent↗

PubMed1993

[Therapy of cystoid diffuse macular edema after uveitis and cataract surgery with the carbonic anhydrase inhibitor acetazolamide (Diamox)].

BACKGROUND: Observations made by Cox, Bird et al. (1988), who first used acetazolamide (Diamox) for treatment of macular edema of various origin in a higher number of patients, let assume a positive effect of this therapy on fluid accumulation specifically inside the inner retinal layers. Based on these studies 15 patients (20 eyes) with cystoid or cystoid-diffuse macular edema were treated with acetazolamide in a pilot-study. MATERIALS AND METHODS: Eleven patients (fifteen eyes) had postuveitic macular edema, four other patients (five eyes) had cystoid edema following cataract surgery. Patients with additional diseases causing macular edema of retinal vascular origin were excluded. The initial dose was 500 mg daily. In one patient responding to therapy the dose was gradually reduced after three weeks down to a minimum of 125 mg every second day. For evaluation of the therapeutical results fluorescein angiography and visual acuity were taken into account. RESULTS: Eleven patients (fourteen out of twenty eyes) showed a distinct therapeutical effect with decrease of macular edema in repeatedly controlled fluorescein angiography. All these patients had a subjective improvement of vision which correlated with an increase of visual acuity in exactly one half of all patients. Therapy was stopped, when the macular edema had still appeared unchanged in angiography after three weeks or when--in spite of fluid reduction in angiography--no improvement of visual acuity could be obtained in the next two months. The maintenance dose showed large individual variation with a minimum of 125 mg every second day and a maximum of 250 mg per day. Attempts to stop therapy resulted in a early reappearance of the edema of original extension with corresponding deterioration of visual acuity and sensitivity of central visual field. In a few patients even the reduction of the dose below the individual maintenance dose could be demonstrated angiographically. All patients were under continuous internal medical control, permanent side-effects of acetazolamide with the doses used in this study were not seen. CONCLUSIONS: The results show that acetazolamide is a basically effective agent against cystoid macular edema and that a therapeutical trial is justified based on the treatment criteria of this study. The factors limiting the therapeutical effect of acetazolamide cannot yet be evaluated on the basis of the small amount of patients in this pilot-study. Considering the patient data a time factor depending on the period between onset of edema-related symptoms and begin of treatment is likely. In the group of unsuccessfully treated cases we had the patients with the longest period of preexisting edema (more than one year) of the study.

Acetazolamide↗

PubMed1992

Histopathologic findings in eyes treated with a ruthenium plaque for uveal melanoma.

Fifty-six globes that had to be enucleated following ruthenium plaque therapy were examined histopathologically. These eyes account for 10% of all uveal melanomas treated at the University Eye Clinic Essen up until 1985. All but one revealed at least some supposedly viable tumor cells. The most prominent findings within the tumors were tumor cell necrosis, vacuolization and balloon cell degeneration, vascular obstruction and fibrosis of the tumor stroma with accumulation of pigmented macrophages. Tumor necrosis was complete or nearly complete in five cases. Tumor regression correlated with cell type and pigmentary characteristics of the tumor, with epithelioid and heavily pigmented tumor cells being more radiosensitive. Tumor regression was inhomogeneous, possibly due to polyclonality, with tumor cells of varying radiosensitivity, or due to patchy areas of vascular obliteration. Among other ocular structures, extensive subretinal gliosis, chorioretinal atrophy and scarring of the sclera within the field of radiation were observed. Scleral necrosis was present in only five cases and was limited to areas in which the tumor had infiltrated the deep scleral layers. The findings described were considered to reflect radiation injury rather than spontaneous tumor regression when compared to 70 control eyes that had been enucleated without prior treatment for uveal melanoma.

Aged↗

PubMed1991

[Value of Doppler carotid artery sonography in ophthalmologic diagnosis].

We report the clinical and Doppler sonographic findings on the internal carotid artery in 230 patients with various purely ocular vascular symptoms. For evaluation, the patients were subdivided into four groups: group I (107): central retinal artery obstruction (CRAO) (13), branch retinal artery obstruction (BRAO) (31), amaurosis fugax (AF) (13), anterior ischemic optic neuropathy (AION) (50); group II: retinal vein occlusion (25); group III: "low-tension glaucoma" (55); group IV: chronic open-angle glaucoma with a possible vascular co-factor (43). In group I with signs of arterial ocular mal-perfusion; 29.5% of cases with CRAO and BRAO revealed significant stenosis or complete obstruction of the ipsilateral internal carotid artery. Only 4 of 50 cases (8.0%) with AION showed positive findings. A remarkable result of this evaluation is the coincidence that nearly all high-grade obliterations and obstructions of the internal carotid arteries diagnosed in this study were exclusively confined to eyes with very severe ischemic changes in both anterior and posterior segments. In no other case was localization or extent of the obstructive process in the internal carotid artery predictive. Venous retinal obstructions with only 16% positive findings did not show any correlation with arterial occlusive disease of extracranial vessels based on demographic aspects and clinicopathological studies. Also no etiological correlation could be detected in either of the glaucoma groups (III and IV).

Blood Flow Velocity↗

PubMed1990

[Hemolytic-uremic syndrome in an adult with T-cryptantigen liberation].

Haemolytic uraemic syndrome was diagnosed in a 36-year-old woman with acute renal failure (creatinine 10.5 mg/dl), haemolytic anaemia (haemoglobin 9.7 g/dl, lactate dehydrogenase 1926 U/l) and thrombopenia (98,000/microliters). After initial plasmaphereses and high doses of furosemide all symptoms disappeared within three weeks. The lectin tests demonstrated that the illness was connected with the liberation of T-crypt-antigen (Thomsen-Friedenreich antigen) on the erythrocytes. This special form of the haemolytic uraemic syndrome (neuraminidase-induced haemolytic uraemic syndrome) has previously been observed almost exclusively in children. However, for diagnosis and differentiation of haemolytic uraemic syndromes the presence of liberated T-antigen on erythrocytes should also be tested for in adults.

Acute Kidney Injury↗

PubMed1990

[The sonographic image of gallbladder adenomyomatosis].

Compared with oral or intravenous cholecystography, a diagnosis of adenomyomatosis of the gall bladder is only rarely made by ultrasound. In nine patients this diagnosis was made by sonography and confirmed at operation or by cholecystography. In four patients it was an incidental finding during ERCP. The main feature is localised or generalised thickening of the wall of the gall bladder with a smooth outer contour. In seven cases there were small cysts in the wall and in two echogenic areas in the wall. An important criterion for distinguishing between inflammatory and neoplastic mural thickening is the contractility of the gall bladder.

Cholangiopancreatography, Endoscopic Retrograde↗

PubMed1990

[Cytostatic and immunosuppressive treatment of ocular Behçet syndrome].

Ocular symptoms of Behçet's syndrome in 16 patients and the results of cytostatic and immunosuppressive therapy with cyclosporin A (6 patients), chlorambucil (6 patients), and a combination of cyclophosphamide and procarbacin (4 patients) are described. The clinical course and therapeutic outcome were compared to the patients' visual acuity and the duration of the disease prior to institution of cytostatic therapy. Average follow-up was 4.6 years, maximum 9 years. The principal ocular symptom in all patients was hemorrhagic, occlusive periphlebitis. Other symptoms, in descending order of frequency, were chorioretinitis, iridocyclitis, complicated cataract, secondary glaucoma and exudative retinal detachment. The patients in whom cytostatic therapy was instituted no later than 6 months after onset of the disease showed an improvement in or stabilization of visual acuity, as well as a clear reduction in signs of intraocular inflammation and frequency of recurrence. No improvement in visual acuity or ocular symptoms was achieved in cases where the disease was very advanced, despite cytostatic-immunosuppressive therapy. The results support early institution of immunosuppressive therapy in cases with Behçet's syndrome where severe, irreversible damage has not yet occurred and in which vision is threatened in both eyes. However, due consideration must be given to the potential risks of immunosuppressive therapy, in particular the risk of a malignant tumor.

Acyclovir↗