Homocystinuria--a surgical and anaesthetic risk.
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Biomedical subjects
Publications and source records attributed to L Regenbogen.
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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.
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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.
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In a sample of 150 deaf children, 45.3% were found to present ocular anomalies interfering with good vision. This high frequency of visual impairment contributes to the low-level functioning and lack of normal developmental drives characteristic of deaf children. Early identification, competent diagnosis and appropriate intervention by a team of specialists are required in the treatment of such cases.