title: The genetics of pigment dispersion syndrome and pigmentary glaucoma.
abstract: We review the inheritance patterns and recent genetic advances in the study of pigment dispersion syndrome (PDS) and pigmentary glaucoma (PG). Both conditions may result from combinations of mutations in more than one gene or from common variants in many genes, each contributing small effects. We discuss the currently known genetic loci that may be related with PDS/PG in humans, the role of animal models in expanding our understanding of the genetic basis of PDS, the genetic factors underlying the risk for conversion from PDS to PG and the relationship between genetic and environmental--as well as anatomical--risk factors.
authors.affiliation: NIHR Biomedical Research Centre for Ophthalmology, Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology, London, UK. glascaratos@gmail.com
authors.forename: Gerassimos
authors.initials: G
authors.lastname: Lascaratos
authors.forename: Ameet
authors.initials: A
authors.lastname: Shah
authors.forename: David F
authors.initials: DF
authors.lastname: Garway-Heath
mesh_terms: D000594:Amino Acid Oxidoreductases / Q000235:genetics; D000818:Animals; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D003598:Cytoskeletal Proteins / Q000235:genetics; D004195:Disease Models, Animal; D017889:Exfoliation Syndrome / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics; D059647:Gene-Environment Interaction; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics; D006801:Humans; D008562:Membrane Glycoproteins / Q000235:genetics; D051379:Mice; D009154:Mutation; D010088:Oxidoreductases / Q000235:genetics; D000099179:Myocilin
chemical_list: D000594:Amino Acid Oxidoreductases; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D008562:Membrane Glycoproteins; D010088:Oxidoreductases; D000099179:Myocilin; C445671:Gpnmb protein, mouse; C079621:Tyrp1 protein, mouse; C445313:LOXL1 protein, human