OMIM ID:
Glaucoma, Congenital Primary C
Alternate Names
Defective Genes
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.
Genetics
Inheritance
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.
Pedigree
Autosomal recessive
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.
In order for autosomal recessive disorders to be expressed, offspring generally must inherit two mutations, one from each carrier parent. Carriers with only one mutation, such as the parents, do not have clinical disease. Note that carrier parents can expect that 1 in 4 children (25%) will inherit both mutations and have the disorder, 2 in 4 children (50%) will be carriers like their parents, while 1 in 4 children (25%) inherit neither mutation.