Eye Diseases

Coloboma Signs and Symptoms, Causes, Treatment, Do and Don’ts

Coloboma Alternative Names

  • Congenital ocular coloboma
  • Microphthalmia, isolated, with coloboma
  • Ocular coloboma

Group of people

Baby boy, baby girl, Teen Boy, Teen Girl, Man, Women

General Information

Coloboma is an eye abnormality that occurs before birth. Most colobomas are present since birth (congenital). Colobomas are missing bits of tissue in structures that structure the eye. Coloboma can be inherited or can occur spontaneously. This is a congenital defect that affects the normal structures of the eye, most commonly the eyelid or the iris.

It can be inherited or can occur spontaneously. This is a congenital defect in the structure of either the eyelid or the eye. A coloboma depicts conditions where ordinary tissue in or around the eye is missing during childbirth. This Disease involving the retina result in vision loss in specific parts of the visual field. Colobomas might be available in one or the two eyes and, contingent upon their size and area, can influence an individual’s vision.

People with coloboma 

Colobomas involving the eyeball should be distinguished from gaps that occur in the eyelids. People with coloboma may also have other eye abnormalities, including cataract (clouding of the lens of the eye), glaucoma (increased pressure inside the eye) that can damage the optic nerve, myopia (vision problems such as nearsightedness), nystagmus (involuntary back-and-forth eye movements), or retinal detachment (separation of the retina from the back of the eye).

Frequency of Coloboma 

Coloboma is likely to cause light sensitivity in bright conditions. Coloboma occurs in approximately 1 in 10,000 people. Because coloboma does not always affect vision or the outward appearance of the eye, some people with this condition are likely undiagnosed.

Causes of Coloboma

Coloboma may be caused by changes in many genes involved in the early development of the eye, most of which have not been identified.

Coloboma can occur due to:

  • Trauma to the eye
  • Inherited conditions
  • Eye surgery
  • Certain drugs or infections during pregnancy.

Environmental causes

Factors may also be of significance in the development of this condition. Environmental components that influence early improvement, for example, the introduction to liquor and certain medications during pregnancy, may expand the danger of coloboma. Most sporadic cases of coloboma are unilateral and often due to environmental factors, leading to malformations in multiple systems of the body.

Environmental triggers (operating during pregnancy) include:

  • Vitamin A and vitamin E deficiency
  • Ionizing radiation exposure
  • Drugs used in pregnancy, such as thalidomide (4%) and alcohol
  • Hyperthermia
  • Infections with cytomegalovirus (CMV) and toxoplasmosis

Genetic causes

Coloboma may occur spontaneously or it may be inherited. People with disconnected coloboma can in any case pass the condition onto their kids. It might bunch in families as per the legacy design for that condition.

Symptoms of Coloboma

Persons with coloboma may have normal vision and no symptoms, or they may have mild to severe vision impairment. How vision is influenced relies upon where the hole or holes happen in the eye. Symptoms may include:

  • Keyhole-shaped pupil
  • Blurred vision
  • visual impairment and blindness or Vision that may not always be correctable
  • Ghost image
  • Light sensitivity or photophobia
  • Cataract formation, glaucoma and subluxation of the lens
  • Double vision
  • Decreased visual acuity

Risk Factors

There may be more than one gene involved in being at risk for coloboma, and environmental factors might play a role. The risk of coloboma may also be increased by environmental exposure to alcohol during pregnancy and other factors.

Sometimes a coloboma is part of a genetic syndrome. Not all babies born with a coloboma have a family history of this condition or a particular syndrome, suggesting that the disorder can appear by chance.

Treatments of Coloboma

There is no cure for a coloboma and treatment varies depending on the type. Symptoms manifest from early childhood, coloboma is diagnosed early in development. It is a birth defect affecting parts of the eye like the eyelid, iris, lens, retina or optic nerve. It is a feature of syndromes like CHARGE syndrome. Individuals with an iris coloboma may wear hued contact focal points to cause the iris to show up round.

Surgery can also correct the appearance of the iris. There are also a number of procedures to repair colobomas of the eyelid. Follow the healthcare provider’s instructions for ways to help your child’s vision. In the event that coloboma is just in one eye, the other eye might be treated with an eye fix or glasses to anticipate an issue called sluggish eye.

for Detail of Different Types of Coloboma.

Symptoms of Chorioretinal Colobomas

Chorioretinal colobomas occur in the posterior segment of the eye, behind the pupillary opening. These colobomas are brought about by disappointment of the back piece of the optic crevice. This disease do not cause any noticeable symptoms, but on examination, there are marked defects in the upper part of the visual field.

The defect could affect the retinal pigment epithelium, the choroid or the nervous part of the retina. On the off chance that the coloboma is enormous or includes the optic nerve, vision might be lost or poor and uncorrectable with focal points.

In many cases retinal detachment occurs. It then appears as a bare area of the sclera, uncovered by any other layers of the eye.

Prevention/ Do and Don’ts

Contact lenses used to improve the cosmetic appearance of a coloboma, and to rid the patient of unwanted symptoms. Contact focal points might be utilized to improve the corrective appearance of a coloboma. The youngster may require adjustment of strabismus (squint) or refractive mistakes sometimes.

Treatment of associated conditions like cataract and glaucoma will also require treatment.

  • High-contrast reading materials
  • Magnifiers
  • Glasses with special filters
  • Special computer software

Diagnosis of Coloboma

Colobomo Diagnose by below methods.

  • Direct and Indirect Ophthalmoscopy
  • Slit lamp examination
  • Optical Coherence Tomography (OCT)
  • CT Scan / MRI Brain

Other information

Coloboma can occur in conjunction with heart defects, choanal atresia, nervous system abnormalities, genital or urinary tract anomalies. This Disease can be inherited or can result from a random genetic mutation, as a stand-alone defect, or as part of a number of genetic disorders which affect other organs as well. Coloboma of the iris is a gap or deformity of the iris of the eye. Seek medical advice when Loss of vision, Eye that looks cloudy, Back-and-forth movement of the eye that your child can’t control, Eye pain, Other symptoms as noted by your child’s healthcare provider.


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