The Wagner-Stickler syndrome complex
| Autor: | Victor Godel, Moshe Lazar, Pinhas Nemet |
|---|---|
| Rok vydání: | 1981 |
| Předmět: |
Nosology
Pathology medicine.medical_specialty Connective Tissue Disorder genetic structures Biology Bone and Bones Retina chemistry.chemical_compound Physiology (medical) Myopia medicine Humans Abnormalities Multiple Wagner-Stickler syndrome Genetic heterogeneity Vitreoretinal degeneration Retinal Degeneration Autosomal dominant trait Retinal Syndrome medicine.disease eye diseases Sensory Systems Vitreous Body Ophthalmology chemistry Face sense organs Mouth Abnormalities Wagner's disease |
| Zdroj: | Documenta Ophthalmologica. 52:179-188 |
| ISSN: | 1573-2622 0012-4486 |
| DOI: | 10.1007/bf01675204 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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