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Biomedical subjects

L Regenbogen

Publications and source records attributed to L Regenbogen.

At least 19 recordsLinked to original sources

Diseases with ocular and dental abnormalities.

This report gives an overall view on the aspect of numerous diseases and symptom complexes affecting both eyes and teeth. The knowledge of these disorders enables the ophthalmologist to suspect and recognize certain types of dental malformation and enables the dentist to discover certain eye defects. Moreover, it is important that clinicians be aware that simultaneous eye and tooth defects may be the indication of possible disturbances in other, apparently unrelated, organs or systems. Because such disorders are frequently hereditary conditions, their early detection will aid in the diagnosis and treatment of other affected family members. This may also help the parents to cope with the disease and be of benefit to the infants because a cure may be forthcoming.

Eye Abnormalities↗

Retinitis pigmentosa and discoid lupus erythematosus.

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.

Adult↗

Oculocutaneous syndromes.

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.

Adolescent↗

Adenocarcinoma of retinal pigment epithelium.

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.

Adenocarcinoma↗

Hereditary vitelliform macular dystrophy.

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.

Adolescent↗

Best's vitelliform macular dystrophy.

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.

Adolescent↗

Cervico-oculo-acoustic syndrome.

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.

Abnormalities, Multiple↗

Clinical variability in vitreoretinal degeneration.

Three families with a wide range of vitreoretinal degeneration, median cleft face syndrome and skeletal anomalies are described. Their autosomal dominant transmission and phenotypic spectrum are presented. In view of the similarity between these patients and the clinical overlap existing between them, it is assumed that they are all the same entity forming parts of a continuum. As the pleiotropic gene has such different and varying expressivity with regard to the organ system involved, it is presumed that the dominance in this complex disorder is irregular.

Adolescent↗

Macular pucker following accidental laser burn.

A case of an accidental exposure to a high intensity Q-switched infrared laser beam is described. A paramacular burn, splinter hemorrhages on the disc margin, and vitreous hemorrhage were the initial findings. Later, a paramacular pucker developed, causing reduction in visual acuity to 6/12. Microvascular accident on the disc margin is assumed to be the cause of a paracentral scotoma located fairly far from the image area.

Accidents, Occupational↗

Retinal arterial loop occlusion.

A case is described in which a right preretinal arterial loop was complicated by an obstructive episode, producing an altitudinal visual field defect. The mechanism of the occlusion of the retinal vascular loop and the pathogenesis of the associated vitreous hemorrhage are discussed.

Adult↗