Variable clinical spectrum of the myocilin Gln368X mutation in a Dutch family with primary open angle glaucoma.
OBJECTIVE
To describe the clinical phenotype in a family with primary open angle glaucoma harboring a p.Gln368X mutation in MYOC.


METHODS
We identified a proband with primary open angle glaucoma and the p.Gln368X MYOC mutation. She and her six siblings were examined clinically, including Heidelberg Retina Tomography II, and venous blood samples were screened for other variants in MYOC, WDR36, OPTN, and CYP1B1.


RESULTS
Four individuals showed the p.Gln368X MYOC mutation, no other genetic variations were assessed. Two of these four siblings had glaucomatous optic disc changes with corresponding visual field losses and abnormal Heidelberg Retina Tomography results by the Moorfields regression analysis, one had abnormal results by the Moorfields regression analysis but no visual field loss, and one showed no glaucomatous signs or symptoms at all. These findings did not correlate with the age of the affected individuals.


CONCLUSIONS
In the primary open angle glaucoma family described here, we documented a wide range in clinical symptoms, demonstrating a highly variable penetrance of the MYOC p.Gln368X mutation.
Hogewind
Barend F T
BF
Department of Ophthalmology, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.f.hogewind@ohk.umcn.nl
Mukhopadhyay
Arijit
A
Theelen
Thomas
T
Hollander
Anneke I Den
AI
Hoyng
Carel B
CB
D000328:Adult; D003598:Cytoskeletal Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005136:Eye Proteins / Q000235:genetics*; D005260:Female; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006023:Glycoproteins / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009426:Netherlands; D009901:Optic Nerve Diseases / Q000235:genetics; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014786:Vision Disorders / Q000235:genetics; D014794:Visual Fields; D000099179:Myocilin
D003598:Cytoskeletal Proteins; D005136:Eye Proteins; D006023:Glycoproteins; D000099179:Myocilin