TY  - CHAP
M1  - Book, Section
TI  - Primary Open Angle Glaucoma
A1  - Wiggs, Janey L.
A2  - Murray, Michael F.
A2  - Babyatsky, Mark W.
A2  - Giovanni, Monica A.
A2  - Alkuraya, Fowzan S.
A2  - Stewart, Douglas R.
PY  - 2014
T2  - Clinical Genomics: Practical Applications in Adult Patient Care
AB  - Disease  summary:Primary  open  angle  glaucoma  (POAG)  is  a  genetically  and  clinically  complex  disease  with  multiple  genetic  risk  factors  and  environmental  exposure  influencing  disease  susceptibility.POAG  is  defined  by  progressive  degeneration  of  the  optic  nerve.  Elevation  of  intraocular  pressure  (IOP)  is  a  risk  factor  for  optic  nerve  degeneration,  however,  approximately  30%  of  POAG  patients  have  optic  nerve  degeneration  despite  IOPs  in  the  normal  range  (called  normal-pressure  glaucoma  or  NPG,  also  normal-tension  glaucoma  or  NTG).Ocular  traits  other  than  IOP  also  contribute  to  POAG  risk  including  the  thickness  of  the  central  cornea,  the  size  of  the  optic  nerve  (optic  nerve  area),  and  the  size  of  the  optic  nerve  “cup”  relative  to  the  overall  size  of  the  nerve  (optic  nerve  cup-to-disc-ratio,  CDR).Differential  diagnosis:Exfoliation  glaucoma,  pigment  dispersion  glaucoma,  developmental  glaucoma,  angle-closure  glaucomaMonogenic  forms:Autosomal  dominant  juvenile-onset  primary  open-angle  glaucoma  caused  by  mutations  in  the  MYOC  gene.Family  history:Siblings  and  first-degree  relatives  have  a  7  to  10  times  increased  risk  of  developing  POAG  overall.Twin  studies:Monozygotic  twins  have  an  increased  risk  of  disease  when  compared  to  dizygotic  twins.Environmental  factors:Postmenopausal  hormone  use  and  body  mass  index  (BMI)  have  been  suggested  as  environmental  risk  factors  for  POAG.Genome-wide  associations:Genome-wide  association  studies  (GWAS)  have  identified  five  genes  or  loci  for  POAG:  CDKN2BAS  (POAG  and  NPG),  CAV1/CAV2  (POAG),  TMCO1  (POAG),  SIX1/SIX6  (POAG),  and  8q22  (NPG).  GWAS  for  ocular  quantitative  traits  relevant  to  POAG  have  also  yielded  results:  CDKN2BAS  (CDR),  SIX1/SIX6  (CDR),  ATOH7  (optic  nerve  area),  and  a  number  of  genes  or  loci  for  central  corneal  thickness  (CCT),  a  trait  that  is  a  risk  factor  for  the  disease.  Disease-associated  genetic  variants  (single-nucleotide  polymorphisms  [SNPs])  have  provided  insight  into  disease  pathogenesis;  testing  for  SNPs  is  not  yet  clinically  validated  to  diagnose  or  guide  management  of  POAG.Pharmacogenomics:Testing  for  common  variants  has  not  yet  been  shown  to  influence  management  of  POAG.  
SN  - 
PB  - McGraw-Hill Education
CY  - New York, NY
Y2  - 2024/04/19
UR  - accessbiomedicalscience.mhmedical.com/content.aspx?aid=1102706205
ER  -