Myocilin

Mutations of this gene cause juvenile-onset primary open angle glaucoma.

Epidemiology

The mutation is mostly described in Caucasians. In about 4% of patients with primary open angle glaucoma this mutation is present.

Gene Structure

The gene MYOC, formerly named GLC1A, is about 17kb in size. It consists of 3 large exons. It is located on chromosome 1 (1q24.3-q25.2).

Phenotype

The clinical picture is the juvenile open angle glaucoma.

Pathology

The protein product of that gene is the trabecular meshwork-induced glucocorticoid response protein (TIGR). It was assumed that a mutation of this gene causes disturbances of ocular water efflux. But more recent investigations showed its function ocular muscles.

Test Strategy

Patients with primary open angle glaucoma and family history. Other members of an affected family.

Interpretation

The importance of this investigation is in family consulting and early diagnosis of family members.

Genetests:

Related Diseases:

Open angle glaucoma 1A
	MYOC

Open angle glaucoma 1L
	MYOC

References:

1.	Alward WL et al. (1998) Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

2.	Kanagavalli J et al. (2004) A review of genetic and structural understanding of the role of myocilin in primary open angle glaucoma.

3.	NCBI article NCBI 4653

4.	OMIM.ORG article Omim 601652

5.	Orphanet article Orphanet ID 123659

6.	Wikipedia article Wikipedia EN (Myocilin)