Overview of Coloboma

CoroBoma is a congenital eye defect, which manifests as a missing tissue volume (gap or notch) in the eye structure. The eyes consist of several protective layers and cavities. The outer layer consists of sclera and cornea. The anterior part of the sclera is covered with a transparent membrane called conjunctiva. This includes protecting the eyes and covering the inside of the eyelids. The cornea is a domed structure at the front of the eye surrounding the anterior chamber of the eye.

Candida albicans on the uvea is thought to be mainly derived from heredity. "Genetic" refers to an artificial chromosome caused by genes that do not function properly when formed by the eye. Coroboma is part of a specific genetic syndrome and genetics is well known. For example, coloboma is a characteristic of CHARGE syndrome associated with a change or complete absence of a gene known as CHD7. In some cases, researchers have discovered genes related to coloboma. However, so far we do not yet know which genes are describing most cases of Coroboma. For details on what is a gene, what is a gene condition, please refer to the Genetics Reference of National Institute of Medical Research.

Solitary colobomas can follow the genetic pattern of all possible single genes, namely autosomal dominant inheritance, autosomal recessive inheritance, and X chain. For details on the inheritance model, refer to the National Institute of Medicine's Genetics Reference. However, in families, Coroboma only follows one pattern. For example, in the case of an autosomal dominant pattern, a person suffering from coloboma has the possibility of delivering that coroboma to its offspring once or twice. It is impossible to show the exact number of recurrence risks because it is impossible to determine which genetic model is involved in a family member with a Coloboma case. Coroboma's recurrence risk calculated based on the average data (experience risk) of many households is about 10%. Because information from family is mixed, this is an incomplete number. These risks are close to 0%, information from families, actual risk may be 25%, even 50%.

Most colobomatic cases seem to have no previous family history. Depending on your family, you may be inherited by coloboma. If your child is diagnosed as a coloboma, it is advisable that your child's parents undergo eye examination. This is because Colobomas may exist without causing visual problems. Therefore, parents may have Colobomas, but I do not know about that. If a coloboma is found in the eye examination, parents can investigate the genetic model with a hospital or a genetic counselor. There is currently no cure for coloboma. Children suffering from coloboma will undergo medical treatment at a professional hospital early in order to monitor the influence of coloboma and the health condition of their eyes. The frequency of these checks is determined by the needs of the child. Children with COBOLOMA may be susceptible to glaucoma (elevated intraocular pressure) and retinal detachment. These conditions are treated and the hospital will explore with you.