Biomedical subjects
Publications and source records attributed to L Regenbogen.
A 41 year old male is presented who suffers from both advanced retinitis pigmentosa and active discoid lupus erthematosus. A possible association between the two pigmenting disorders is discussed as well as the treatment of the discoid lupus with potentially retinotoxic hydroxychloroquine.
Research in genetics and the collaboration of various medical disciplines are responsible for the discovery of many new syndromes. The association of ocular and skin malformations is not astonishing when one remembers that the embryonic development of the eye and the skin are of ectodermal origin; both the eye and skin may reflect a variety of systemic disturbances occurring during their formation, or represent genetic disorders. An ocular and a dermatological feature may be the first indication of a possible disturbance on other organs. The reality that juveniles may frequently present simultaneous associations of eye and skin malformations is a phenomenon not widely known among physicians and reports in the recognition of syndromes with those manifestations are dispersed among various medical journals. The authors described the various syndromes with ocular and dermatologic findings that are of interest to the ophthalmologist.
This report describes a 41-year-old man with an intraocular tumour misinterpreted clinically as choroidal melanoma. The fluorescein angiographic features were not fully characteristic of uveal malignancy, and indeed histopathology revealed the diagnosis of adenocarcinoma of the retinal pigment epithelium. It is suggested that, in cases with the fundus and angiographic findings described here, the rare possibility of adenocarcinoma of retinal pigment epithelium should be kept in mind. Of particular interest were the changing pathological findings in the various parts of the tumour, which paralleled the fluorescein angiographic pattern.
Explore the source record for details and available documents.
Two families with vitelliform macular dystrophy were investigated ophthalmologically and genetically. The pedigree examination verified the usual expressivity. Macular pigmentary abnormalities or extramacular vitellin deposits were disclosed in some asymptomatic patients.
We examined and evaluated the ophthalmological findings of 47 patients with Best's Vitelliform Macular Dystrophy (BVMD) and 5 cases suffering from related conditions to this macular disorder. Our sample re-confirm that BVMD is a progressive disease which may have several appearances in the course of its evolution. The heredity of this disorder is autosomal dominant with reduced penetrance and variable expressivity. Some contradictions exist regarding the nature of the primary defect in this entity. Electrooculographic and angiographic investigations lend support to the belief that the basic pathological changes are located in the retinal pigment epithelium. However, recent histopathological findings and flicker electroretinographic results indicate the possibility that the photoreceptor cells are equally involved, even before the pigment epithelium. In view of the existing disagreements about the pathogenesis of this disorder, certain considerations were advanced which suggest that the basic pathologic process in this entity produces a disorganisation in the structural and functional interdependance of both the photoreceptor cells and pigment epithelium.
A 12-year-old boy with the cervico-oculo-acoustic syndrome, which comprises Duane retraction syndrome, Klippel-Feil anomaly (fused cervical vertebrae) and congenital hearing loss, is described. To this classical triad an optic nerve head coloboma was associated. To the authors' knowledge this is the first case in which such an association has been recorded.
Explore the source record for details and available documents.
A Jewish-Iranian family suffered from lipoid proteinosis. The 8 affected siblings were from consanguineous matings and presented a wide range of phenotypic expressions. Minimal manifestations in 2 heterozygote carriers and the possibility of autosomal recessive inheritance are discussed.
A 21-year-old woman suffering from Harada's disease was carefully evaluated during a three year follow-up study. In the acute stage of the disease the electroretinographic changes were found to parallel the clinical course. The functional parameters indicate that the retinal involvement is localized in the layers which generate the electroretinogram. Some attempts to explain the discrepancy between the decreased positive amplitude of the electroretinogram and the normal sensory threshold findings give credence to the concept that such paradoxical behaviour can be explained by the focalized nature of the retinal involvement.
Explore the source record for details and available documents.
In this retrospective study we evaluated 154 patients with primary angle-closure glaucoma operated on by peripheral iridectomy to determine the factors contributing to the high occurrence (57%) of cataracts. Cataract formation in an eye operated on by peripheral iridectomy was age-dependent and less related to the time after surgery. The acute attack enhanced the appearance of the lenticular changes but did not influence the overall occurrence of cataracts in older patients.
Seven retinal breaks occuring after occlusion of a major retinal arterial or venous branch were found in the eyes of six patients. Five holes were in the midretina, in a nonperfused avascular area corresponding to the sector affected by the vascular accident. One was a macular hole, and one a horseshoe tear outside the area involved in the vascular occlusion caused by traction of vitreous on a tuft of neovascular tissue. Five of the holes may have been caused by a kind of sequestration of the retina secondary to vascular insufficiency.
Three patients with central retinitis pigmentosa were investigated in a 5-year follow-up study. The psychophysical and electrophysiological data show the involement of both the central and peripheral photoreceptors and their continuous functional deterioration with time. This conclusion could be demonstrated under all conditions of testing indicating the polymorphism of the disease. The results and the lack of genetical involvement make it difficult to relate this condition to the classical pigmentary retinal degeneration. This data emphasizes the importance of clinical reevaluations and serial electrophysiological testing in order to differentiate between the stationary periods and the progressive deterioration in this disease.
Macroaneurysms of the retinal arteries were found in both eyes of a patient suffering from systemic hypertension. The development of the aneurysms were related to high blood pressure attacks. Treatments with low energy laser coagulation reduced the aneurysms, preserving good patency of the vessels. In the right inferior temporal artery, an untreated focal narrowing deteriorated to an occlusive fibroblastic proliferation, emphasizing how damaging the course of the disease may be.
A 59-year-old woman had an unusual association of unilateral retinitis pigmentosa and optic pit with macular pathologic features in the same eye. A general ophthalmic and electrophysiologic investigation characterized the patient's condition functionally, without defining the basic defect responsible for this peculiar association. While an exact explanation of this occurrence cannot be given at this time, the possibility of coincidence or abiotrophy with developmental defects can be suggested as its intimate mechanism.
Preserved human scleral graft and histoacryl-blue tissue adhesive were used in four cases of retinal detachment surgery to obtain scleral buckling effect and to protect staphylomatous or necrotic scleral areas. The use of histoacryl produced a strong and resistant adhesion between the host and the preserved scleral patch. The postoperative inflammatory reaction was mild and disappeared within one week.