Biomedical subjects

C Framme

Publications and source records attributed to C Framme.

22 records · Page 2Linked to original sources

PubMed1998

[Atypical constellation of findings in Schimmelpenning-Feuerstein-Mims syndrome--case report and overview].

BACKGROUND: The Schimmelpenning-Feuerstein-Mims-syndrome is a phacomatosis of unknown pathogenesis and is presumed to be based on alterations in early embryogenesis. The syndrome is expressed by congenital nevi characterized by hyperplasia of the sebaceous glands and papillary acanthosis. Other manifestations include ophthalmic, neurologic, cardiovascular, skeletal and urogenital involvement. Eye-findings are variable and may affect all parts of the organ. All patients have a nevus sebaceus of the skin and many of them are described to suffer from seizures and/or mental retardation and/or abnormalities of the central nervous system/skull. The atypical constellation of findings in our case makes it of interest to report and give a short review. PATIENT: A 17-year-old boy with Schimmelpenning-Feuer-stein-Mims-syndrome has been followed up by us since birth. RESULTS: Beside an unilateral combined nevus sebaceus and verrucosus of the face, neck and skull and an aplasia of a rib there were marked ocular symptoms. The affected right eye showed a dermoid, a wide lid-opening, microcornea, stenosis of the lacrimal ducts, a high myopic fundus, the optic disc with an inverse conus and a posterior scleral staphyloma. There were no seizures or mental retardation combined with normal radiologic findings of the central nervous system and the skull. CONCLUSION: The presented findings in our patient with Schimmelpenning-Feuerstein-Mims-syndrome emphasized the high variability of the expression of this disease, which may lead to difficulties in establishing correct diagnosis to prevent unnecessary examinations and inadequate therapies.

Abnormalities, Multiple↗

PubMed1998

[Subretinal neovascular membranes in membranoproliferative glomerulonephritis type II].

BACKGROUND: So called 'dense deposits' in the retina of a patient suffering from membranoproliferative glomerulonephritis type II (MPGN II) were first demonstrated in 1989. Appearence of subretinal neovascular membranes associated with MPGN II in three patients was described in 1990. PATIENT AND METHODS: We present a 45-year-old male patient, whose insufficiency of the kidney due to a membranoproliferative glomerulonephritis type II required peritoneal dialysis and later transplantation. In both eyes fundus examination revealed typical disseminated, partly confluencing, drusen-like 'dense deposits' and exsudative degeneration of the macula due to subretinal neovascular membranes. Visual acuity was less than 20/400 and visual fields were reduced to small excentrics islands. There was an atrophy of the optic nerve with nearly extinguished VEP in both eyes. CONCLUSION: Flecked changes of the retina called 'dense deposits' associated with membranoproliferative glomerulonephritis type II have to be differentiated in particular from drusen, as well as metabolic-toxic and degenerative retinopathy. Development of subretinal neovascular membranes is attributed to altered retinal pigment epithelium, similar to age-related macular degeneration. An atrophy of the optic nerve associated with this disease has not been described so far. It is possible that vascular damage because of hypertensive changes due to renal dysfunction is the reason for the optic nerve atrophy. With another hypothesis this could be caused by intraocular pressure due to a risen flow of water into the vitreous cavity following the altered osmotic gradient after peritoneal dialysis.

Cell Membrane↗

PubMedDate not supplied

Fundus autofluorescence in macular hole surgery.

BACKGROUND: Macular holes usually are diagnosed by biomicroscopy. Fluorescence angiography (FLA) is helpful especially for judging early stages or pseudoforamina. The importance of fundus-autofluorescence in macular hole surgery was studied. PATIENTS AND METHODS: Twenty-five consecutive patients with macular holes (n = 21) and clinically-similar appearances (n = 4) were examined biomicroscopically. In addition, fundus-autofluorescence and FLA were determined by Heidelberg-Retina-Angiograph (HRA, Heidelberg, Germany). A vitrectomy was performed on 16 patients with macular hole stage II, III, and IV, and membrane peeling was performed if necessary. Platelet-concentrate as an adjuvant agent was used in all surgeries, and all 16 patients were examined afterward. RESULTS: In all patients with macular hole stage III and IV (n = 18), fundus-autofluorescence revealed a marked hyperfluorescent spot in the foveolar region and also a hyperfluorescence in FLA. Patients with macular hole stage II (n = 3) showed a slight punctured hyperautofluorescence and a subtle window-defect in the FLA. Postoperatively, the autofluorescence was normal in all eyes with a closed macular hole (87.5%). In some patients, a variable punctured hyperautofluorescence was noticed (n = 3). In eyes with pseudoforamina, the autofluorescence was normal (n = 4). CONCLUSION: In macular hole diagnostics, fun-dus-autofluorescence is able to replace invasive fluorescence angiography. The autofluorescence is helpful for the examination of pseudoforamina and might be useful for estimating therapeutic success.

Aged↗

PubMedDate not supplied

Implantation of stimulation electrodes in the subretinal space to demonstrate cortical responses in Yucatan minipig in the course of visual prosthesis development.

PURPOSE: During the course of the development of visual prostheses, subretinal stimulation films were implanted in micropigs in order to prove the feasibility of subretinal electrical stimulation with subsequent cortical response. One aim was to demonstrate that epidural recording of visual evoked potentials is possible in the micropig. METHODS: Film-bound stimulation electrode arrays were placed in the subretinal space of micropigs. This enabled the retina to be stimulated subretinally. Since conventional visual evoked potential (VEP) measuring is virtually impossible in the pig from the neurosurgical point of view, epidural recording electrode arrays were positioned over the visual cortex as permanent electrodes. RESULTS: The feasibility of temporary implantation of film-bound stimulation electrode arrays was successfully demonstrated in the micropig model. On stimulation with monopolar voltage pulses (1000 to 3000 mV), reproducible epidural VEP measurements (5 to 10 micronV) were detected. CONCLUSIONS: The feasibility of subretinal stimulation of the retina was demonstrated in a retinal model that is similar to the human retina. This animal model therefore offers a suitable means of studying the tolerability of stimulation situations in the course of visual prosthesis development.

Animals↗