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Biomedical subjects

V Godel

Publications and source records attributed to V Godel.

At least 37 records · Page 2Linked to original sources
PubMed1983

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↗
PubMed1982

Basal encephalocele associated with suprasellar epidermoid cyst.

A 27-year-old woman suffered from multiple congenital defects, including transsphenoidal encephalocele. Recent progressive visual loss was at first attributed to this encephalocele, but was later proved to be caused by a suprasellar epidermoid cyst. Its removal was followed by improvement of vision. To the best of our knowledge, the association of basal encephalocele and epidermoid cyst has not been previously described.

Abnormalities, Multiple↗
PubMed1982

Wagner's vitreoretinal degeneration with generalized epiphyseal dysplasia.

Wagner's vitreoretinal degeneration, midline facial defects and a moderate generalized epiphyseal dysplasia defined radiologically were encountered in a boy and his father. The familial nature of the condition and its autosomal dominant inheritance are described. Suggestions are made that patients said to have Wagner's disease differ in no way radiologically from cases diagnosed as having Stickler's syndrome.

Adolescent↗
PubMed1982

The effect of experimental glaucoma on vitreous volume.

Long-term unilateral blocking of the trabecular meshwork with Dextran blue 2000, in 10 rabbits, produced intraocular pressure rise and a significant gain in vitreous mass. These experimental findings were in variance with the previous clinical observation of definitely reduced vitreous volume in phacolytic glaucomatous patients. The reason for this discrepancy is discussed.

Animals↗
PubMed1982

Kearns-Sayre syndrome.

A family with Kearns Sayre syndrome, characterized by a distinctive type of progressive external ophthalmoplegia, retinal pigmentary dystrophy and cardiac disturbances is described. Additional malformations as arachnodactily, sternal deformity, high arched palate and severe myopia are reported. The spectrum of the variable phenotypic expression is delineated. The occurrence of the disease in these patients, off-spring of a consanguineous mating, reinforce the assumption that hereditary transmission may play a role in the pathogenesis of at least some cases. The pedigree analysis suggest autosomal recessive inheritance.

Abnormalities, Multiple↗
PubMed1982

The heterozygote female in X-linked recessive primary retinal dysplasia.

Three families with primary retinal dysplasia are reported. The ophthalmoscopical findings vary from congenital retinal folds to highly disorganized tumor-like protrusions in the vitreous cavity. The family pedigrees along with the clinical features support an X-linked recessive mode of transmission for this condition. Female carriers for this gene may show retinal fold changes. In addition some of these presumed female carriers also demonstrated changes in the stroma of their irides resulting in a gray to grayish-blue color.

Adult↗
PubMed1981

The Wagner-Stickler syndrome complex.

The Wagner's vitreoretinal degeneration is a condition characterized by myopia, cataract, optically empty vitreous cavity and retinal breaks leading to retinal detachments with poor surgical prognosis. Several extraocular manifestations were reported to be associated with these eye findings and various syndromes were delineated describing sensorineural deafness, orofacial anomalies and skeletal dysplasias. There is enough evidence to suggest that this condition results from a phenotypic variability of genic origin, transmitted as an irregular autosomal dominant trait. In the absence of knowledge about the primary gene defect, the problems in nosology emphasize the difficulty in distinguishing genetic heterogeneity from variable gene expression. In view of the great deal of similarity between all these syndromes with vitreoretinal degeneration it is suggested that all these entities represent the extremes of the same disease spectrum forming parts of a continuum.

Abnormalities, Multiple↗
PubMed1981

Retinal dysplasia.

Retinal dysplasia is defined as an abnormal growth and differentiation of embryonic retina being more a secondary lesion rather than a disease. Clinically, the disorder may present itself in a surprisingly wide range of severity or of degree from retinal folds to vascularized masses in the vitreous cavity. The condition may appear monosymptomatically, involving only the eye, or as complex disorders with multisystemic anomalies. The histopathologic findings in this disorder recognize characteristic structural deviations of the retina and the pathogenesis seems to be related to the lack of the normal histogenesis of the pigment epithelium. Impaired genetic mechanisms seem to contribute to the etiology of some forms of retinal dysplasia.

Abnormalities, Multiple↗
PubMed1981

Ophthalmoplegia-plus.

The occurrence of chronic progressive external ophthalmoplegia, pigmentary retinal dystrophy and cardiac disturbances associated with arachnodactily, sternal deformity, high arched palate and severe myopia is reported. A pedigree analysis of this Jewish-Iranian family strongly suggests that the condition is inherited as autosomal recessive trait. The terminology of the condition and the spectrum of it variable phenotypic expression is described.

Adult↗