OMIM

Inheritance and Genes

autosomal dominant
MYOC

Patient Information

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Glaucoma, Open Angle, Juvenile

Clinical Characteristics

Ocular Features

Primary open angle glaucoma is a genetically and clinically heterogeneous condition.  The type described here often has its onset in juveniles, much earlier than the usual type, and is much more rare.  Onset is often in the second or third decade with an average age of onset of 18 years.  It is rare for this form of POAG to be diagnosed after 40 years of age.  IOP is commonly as high as 50 mmHg and the pressure is difficult to control.  Damage to the optic nerve progresses rapidly. The usual pharmacologic agents can be helpful early but surgical control is often required.  Myopia is common (87%) but no anterior chamber anomalies are present.  Juvenile POAG is more common in African Americans.

Systemic Features

No systemic abnormalities have been reported.

Genetics

Juvenile onset open angle glaucoma, GLAC1A, is inherited in an autosomal dominant pattern with high penetrance.  It is caused by a mutation in MYOC located at 1q21-q31.  The usual adult onset glaucoma is caused by different mutations.

Treatment Options

The usual pharmacologic treatment may be effective in some, especially early, but eventually some form of filtration surgery is required in over 80% of patients.

References

Wiggs JL, Del Bono EA, Schuman JS, Hutchinson BT, Walton DS. Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31. Ophthalmology. 1995 Dec;102(12):1782-9.

PubMed ID: 
9098278

Quigley HA. The search for glaucoma genes--implications for pathogenesis and disease detection. N Engl J Med. 1998 Apr 9;338(15):1063-4.

PubMed ID: 
9535674

Wiggs JL, Damji KF, Haines JL, Pericak-Vance MA, Allingham RR. The distinction between juvenile and adult-onset primary open-angle glaucoma. Am J Hum Genet. 1996 Jan;58(1):243-4.

PubMed ID: 
8554064