PubMed Health⌕ Search

Biomedical subjects

V Godel

Publications and source records attributed to V Godel.

At least 19 recordsLinked to original sources
PubMed1994

Genetic mapping of the gene for Usher syndrome: linkage analysis in a large Samaritan kindred.

Usher syndrome is a group of autosomal recessive disorders associated with congenital sensorineural deafness and progressive visual loss due to retinitis pigmentosa. Sixteen members of the small inbred Samaritan isolate with autosomal recessive deafness were studied in 10 related sibships. DNA samples from 59 individuals including parents and affected and nonaffected sibs were typed for markers on chromosomes 1q and 11q for which linkage has recently been established for Usher syndrome types II and I. Statistically significant linkage was observed with four markers on 11q (D11S533, D11S527, OMP, and INT2) with a maximum six-point location score of 11.61 at the D11S533 locus. Analysis of haplotypes supports the notion that the mutation arose only once in an ancestral chromosome carrying a specific haplotype. The availability of markers closely linked to the disease locus allows indirect genotype analysis and identifies all carriers of the gene within the community. Furthermore, the detection of complete linkage disequilibrium between the D11S533 marker and the Usher gene suggests that these loci are either identical or adjacent and narrows the critical region to which physical mapping efforts are currently directed.

Chromosome Mapping↗
PubMed1993

Variable phenotypic expressivity of Best's vitelliform dystrophy.

Two families with Best's vitelliform macular dystrophy (BVMD) were investigated ophthalmoscopically and electrophysiologically. Pedigree examination confirmed the autosomal dominant heredity of this disorder with variable expressivity. Extrafoveal vitelline deposits were present in some asymptomatic patients, strongly suggesting that these deposits represent variable expressivity of familial BVMD.

Adolescent↗
PubMed1990

Spectral electroretinography in thioridazine toxicity.

In three patients with thioridazine toxicity, the electroretinogram (ERG) to red light was found to be below the average normal range. A significant increase in its amplitude appeared with cessation of therapy in two cases. A further deterioration of the ERG amplitude to all stimulus conditions (white, blue, and red lights) occurred when the dose of the medication was increased in the third patient.

Adult↗
PubMed1990

Sudden blindness after thermocoagulation of the trigeminal ganglion.

Sudden blindness during percutaneous thermocoagulation of the gasserian ganglion occurred in a 72-year-old woman with trigeminal neuralgia. Considered a safe procedure, we highlight the possibility of this serious complication which was probably due to direct damage of the optic nerve.

Aged↗
PubMed1989

Late development of chorioretinal lesions in birdshot retinochoroidopathy.

The clinical manifestations of diffuse retinochoroidopathy after recurrent episodes of vitriitis led to the diagnosis of birdshot retinochoroidopathy in two patients in whom the initial lesions were cystoid macular edema and papillophlebitis. Although the onset and clinical characteristics of the early lesions varied, both patients had manifestations of chronic retinal vasculitis. We observed the late appearance and evolution of the characteristic cream-colored depigmented spots which were not present in the early stages of the disease. In addition the second case also developed choroidal neovascularization. Serial electroretinographic examinations showed that this disorder has a progressive course from focal lesions to widespread diffuse changes.

Adult↗
PubMed1987

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↗
PubMed1986

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↗
PubMed1986

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↗
PubMed1985

The concurrent application of ophthalmic drops.

The significance of the time interval between topical instillation of two different ocular preparations in 63 normal subjects was investigated. The experimental model selected was pupillary dilatation by mydriatic agents. The results indicated that two drugs applied at the "same time" had an equal effect to drugs applied 10 minutes apart. The implications of the study to clinical practice are discussed.

Drug Administration Schedule↗
PubMed1985

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↗
PubMed1985

Ocular congenital fibrosis syndrome.

The symptomatology of congenital fibrosis of extraocular muscles, markedly restricted eye movements, blepharoptosis and chin elevation were found in 10 individuals and three generations of one family. The mode of inheritance is compatible with a variable expressive dominant trait. Our experience with the surgical management of the condition using more aggressive procedures than currently employed is described.

Adolescent↗