Evaluation of the Oculomedin gene in the etiology of primary open angle and exfoliative glaucoma.
OBJECTIVE
Glaucoma is a disease of the retinal ganglion cells leading to reduction of peripheral vision. It is often associated with an increase in intraocular pressure, leading to mechanical stress of tissues. The oculomedin gene is activated by such stretching and is therefore a candidate for causing glaucoma.


METHODS
The coding sequence and part of the promoter was screened for sequence variants in Swedish cohorts of primary open angle glaucoma, exfoliative glaucoma, and matched controls.


RESULTS
Only rare variants were detected in the patient material.


CONCLUSIONS
There was no evidence that the oculomedin gene participates in the etiology of glaucoma.
Jansson
Mattias
M
Department of Genetics and Pathology, Unit of Clinical Genetics, Uppsala University, Uppsala, Sweden.
Tomic
Lidija
L
Larsson
Lill-Inger
LI
Wadelius
Claes
C
D000483:Alleles; D001483:Base Sequence; D002851:Chromatography, High Pressure Liquid; D017931:DNA Primers / Q000737:chemistry; D005069:Evaluation Studies as Topic; D017889:Exfoliation Syndrome / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D005902:Glaucoma, Open-Angle / Q000235:genetics*; D006801:Humans; D007429:Intraocular Pressure; D008969:Molecular Sequence Data; D009154:Mutation; D016366:Open Reading Frames / Q000235:genetics; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA
D017931:DNA Primers; D005136:Eye Proteins; C119566:OCLM protein, human