primary congenital glaucoma C

Glaucoma, Congenital Primary C

Clinical Characteristics
Ocular Features: 

It might be expected that the classic signs of glaucoma with buphthalmos, Haab striae, elevated intraocular pressure, corneal edema, and optic nerve damage would be present.  Published information regarding ocular changes does not provide details.

Systemic Features: 

No systemic manifestations have been reported.


Studies in a group of Chinese Han sibships (normal parents) containing patients with congenital glaucoma, and in which CYP1B1 mutations (responsible for type A congenital glaucoma) (231300) were ruled out, revealed areas of homozygosity in the q24.3 region of chromosome 14.  The authors considered this to be confirmation of a locus in the GLC3C area as previously suggested by studies on a 5-generation consanguineous Turkish family.   No specific mutation has been identified, however.

Autosomal recessive
Treatment Options: 

Standard congenital glaucoma treatments can be applied.

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