A case-control comparison of the clinical characteristics of glaucoma and ocular hypertensive patients with and without the myocilin Gln368Stop mutation.
OBJECTIVE
To determine whether primary open-angle glaucoma (POAG) and ocular hypertensive (OHT) patients who harbor the myocilin Gln368Stop mutation differ in phenotype or clinical course from patients without the mutation.


METHODS
Case-control study.


METHODS
A retrospective case-control study compared all known POAG patients (n = 18) and OHT patients (n = 4) harboring the Gln368Stop mutation evaluated by the University of Iowa Glaucoma Service with control patients from the same population. Patients and control subjects were matched for diagnosis, age, sex, and race and were compared for phenotype and clinical course.


RESULTS
Mean age of disease onset and mean peak intraocular pressures (IOPs) of cases were similar to those reported by other studies. There was no statistically significant difference between cases and controls for the following variables: age at onset, peak intraocular pressure, Snellen visual acuity, number of medications, Humphrey visual field (HVF) mean deviation, HVF pattern deviation, number of filtering surgeries performed, time intervals from diagnosis to argon laser trabeculoplasty (ALT), diagnosis to first filtering surgery, ALT to first filtering surgery, and percent change in IOP after ALT and after first filtering surgery.


CONCLUSIONS
There is no statistically significant difference between the onset and clinical course of POAG and OHT caused by the Gln368Stop mutation and POAG and OHT not associated with the mutation.
Graul
Thomas A
TA
Department of Ophthalmology and Visual Sciences, College of Medicine, University of Iowa, Iowa City 52242, USA.
Kwon
Young H
YH
Zimmerman
M Bridget
MB
Kim
Chang-Sik
CS
Sheffield
Val C
VC
Stone
Edwin M
EM
Alward
Wallace L M
WL
D000328:Adult; D017668:Age of Onset; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D018388:Codon, Terminator / Q000235:genetics*; D003598:Cytoskeletal Proteins; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics* / Q000473:pathology*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009798:Ocular Hypertension / Q000235:genetics / Q000473:pathology; D012189:Retrospective Studies; D014792:Visual Acuity; D014794:Visual Fields; D000099179:Myocilin
D018388:Codon, Terminator; D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin