Glaucoma, Congenital Primary B

Clinical Characteristics

Ocular Features:

Type B congenital glaucoma is considerably more rare than type A and may be more common in Middle Eastern families. Few families have been reported but the clinical features are similar: elevated intraocular pressure in infancy or early childhood, photophobia, and cloudy corneas (see Glaucoma, Congenital Primary A [1] [231300 [2]] for a more complete description of the phenotype).

Systemic Features:

No systemic abnormalities are associated.

Genetics

This is an autosomal recessive disorder caused by a mutation in GLC3B [3] mapped to a locus at 1p36.2-p36.1. Type A congenital glaucoma [1] (231300 [2]) is caused by a mutation in CYP1B1 [4] and type D [5] by mutations in LTBP2 [6] (613086 [7]). A locus at 14q24.3 has been asssociated with another form of congenital glaucoma (613085 [8]; type C [9]) but the nature of the gene is unknown. Mutations in TEK [10] are responsible for congenital glaucoma type GLC3E [11].

Treatment

Treatment Options:

As in other types of congenital glaucoma, pressure control is difficult and the best approach entails some form of glaucoma surgical filtration.

References

Article Title:

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region [12]

Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region. Hum Mol Genet. 1996 Aug;5(8):1199-203.

PubMed ID:

8842741