[Genetics of glaucoma].
The glaucomas are the second cause of blindness in the industrialized world. As well as all other pathologies, they take advantage of recent developments in the field of the molecular biology. The run for the pathological genes has just begun. Indeed, in Mai 1993, the first pathological gene was localized on the long arm of chromosome 1q21-q31 in every involved members of a family with juvenile glaucoma. Sequencing of the gene is in progress and should be soon successful. The multitude of clinical glaucoma forms lets foresee several pathological genes. Nosological associations known since long time as glaucoma and diabetes mellitus (certain forms) seem assumed to common chromosomic anomalies. The different types of glaucomas and the most frequent ocular anomalies with glaucoma were examined under the genetic point of view. Whereas the juvenile glaucomas are transmitted according a autosomal dominant pattern with a almost full penetrance, the primary open angle glaucomas are transmitted according a multifactorial mode. This fundamental difference between the diverse forms of glaucomas could have large outcomes on the evolution of the knowledges of the disease and its treatment. The discovery of the genetical anomalies responsible for glaucomas should, in the next three decades, transform radically the treatment of glaucoma. Of symptomatic by lowering of the intraocular pressure, the treatment will become ethiological, either pharmacological through correction of production of the pathological gene, either genic through direct correction of the gene.
Martin
X D
XD
Clinique ophtalmologique universitaire, Zurich.
D015783:Aniridia / Q000235:genetics; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002878:Chromosomes, Human, Pair 1; D005124:Eye Abnormalities / Q000235:genetics; D005799:Genes, Dominant; D005901:Glaucoma / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000235:genetics; D006801:Humans
La génétique du glaucome.