Congenital glaucoma is an inherited optic nerve disorder (i.e., optic nerve hypoplasia) characterized by optic nerve excavation (bowing inward) before the development of myopia (nearsightedness) or other ocular changes associated with childhood or juvenile glaucoma.

Familial occurrence is evident in multiple ethnic groups, and although a genetic predisposition is suggested, the exact inheritance is not clear, as it is not yet known whether congenital glaucoma is transmitted as a dominant trait.

Individuals with congenital glaucoma generally have high eye pressure, which if untreated, can result in an undeveloped or abnormally shaped optic nerve and may eventually lead to blindness. The symptoms of this disorder often occur before birth (i.e., during intrauterine development), or within the first year of life. It is also believed that vision is impaired shortly after birth, and that blindness can result when the intraocular pressure is not treated in the first year of life.

Approximately half of all cases of congenital glaucoma are caused by a mutation in the CYP1B1 gene. This gene is located on chromosome 2 (2q13) and codes for cytochrome P1B1 (a protein which is essential for regulation of eye pressure). People with this gene mutation can either have a direct inherited mutation, or an inherited mutation that is acquired de novo in the fetus or the newborn. Research suggests that a mutation in this gene interferes with the activity of the enzyme cytochrome P1B1 , which has an important role in regulating aqueous humour outflow in the eye. Lack of this enzyme leads to an increase in eye pressure, which in turn can lead to glaucoma.

You can not tell someone they have inherited the 'congenital glaucoma' gene until it is tested in their ancestors. This may be true but as far as my research has taken me this is not always the case. It is important to realize that the various different types of glaucoma may occur together in the same person. As I understand it, this makes diagnosis very difficult. What you need to know is how the different types of glaucoma relate to each other.

This is what I have found to date about glaucoma and genetics.

  1. Many researchers believe that glaucoma is a complex, genetically inherited disorder that affects an individual's eye pressure.
  2. Other factors can be contributing to glaucoma, as is a family history, and also as mentioned earlier, diabetes.

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