title: Molecular basis of open-angle glaucoma in Italy.
abstract: Glaucoma is a group of ocular diseases characterized by an optic neuropathy in which degeneration of retinal ganglion cells leads to a characteristic excavation of the optic nerve head. Primary open-angle glaucoma (POAG) can be subdivided into two groups according to age of onset:- 1. the more common middle- to late-age onset, chronic open-angle glaucoma (COAG) diagnosed after the age of 40 years; 2. the rarer juvenile open-angle glaucoma (JOAG), which is diagnosed between the age of 3 years and early adulthood. Recently, the gene coding for the trabecular meshwork-induced glucocorticoid response protein (TIGR), located in chromosome 1 (1q23-25), was found mutated in patients affected by POAG. In this work we describe the clinical and molecular genetic features of several Italian families affected by autosomal dominant POAG, collected in various regions of Italy.
authors.affiliation: CNR Molecular Genetics Institute, Alghero.
authors.forename: A
authors.initials: A
authors.lastname: Angius
authors.forename: M
authors.initials: M
authors.lastname: Pisano
authors.forename: A
authors.initials: A
authors.lastname: Sanca
authors.forename: G
authors.initials: G
authors.lastname: Casu
authors.forename: I
authors.initials: I
authors.lastname: Persico
authors.forename: S
authors.initials: S
authors.lastname: Pitzalis
authors.forename: E
authors.initials: E
authors.lastname: De Gioia
authors.forename: F M
authors.initials: FM
authors.lastname: Grignolo
authors.forename: A
authors.initials: A
authors.lastname: Loi
authors.forename: G
authors.initials: G
authors.lastname: Sole
authors.forename: A
authors.initials: A
authors.lastname: Cao
authors.forename: P
authors.initials: P
authors.lastname: Spinelli
authors.forename: G
authors.initials: G
authors.lastname: Ghillotti
authors.forename: L
authors.initials: L
authors.lastname: Bonomi
authors.forename: M
authors.initials: M
authors.lastname: Fossarello
authors.forename: A
authors.initials: A
authors.lastname: Serra
authors.forename: S
authors.initials: S
authors.lastname: Gandolfi
authors.forename: G
authors.initials: G
authors.lastname: Alberti
authors.forename: G
authors.initials: G
authors.lastname: Maraini
authors.forename: A
authors.initials: A
authors.lastname: Serru
authors.forename: N
authors.initials: N
authors.lastname: Orzalesi
authors.forename: M
authors.initials: M
authors.lastname: Pirastu
mesh_terms: D000328:Adult; D002908:Chronic Disease; D003598:Cytoskeletal Proteins; D004247:DNA / Q000032:analysis*; D005136:Eye Proteins / Q000235:genetics*; D005819:Genetic Markers; D005902:Glaucoma, Open-Angle / Q000150:complications / Q000453:epidemiology / Q000235:genetics* / Q000378:metabolism; D006023:Glycoproteins / Q000235:genetics*; D006239:Haplotypes; D006801:Humans; D007558:Italy / Q000453:epidemiology; D008875:Middle Aged; D009154:Mutation; D009898:Optic Disk / Q000473:pathology; D009901:Optic Nerve Diseases / Q000209:etiology / Q000378:metabolism / Q000473:pathology; D015995:Prevalence; D014129:Trabecular Meshwork / Q000378:metabolism*; D000099179:Myocilin