What are the other Names for this Condition? (Also known as/Synonyms)

• Agenesis of Macula
• Hereditary Macular Coloboma (subtype)
• Macular Coloboma

What is Coloboma of Macula? (Definition/Background Information)

• Coloboma of Macula is a rare, non-syndromic developmental defect of the eye characterized by well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula leading to decreased vision and, on occasion, other symptoms (e.g. strabismus)
• It is usually isolated, but may also be associated with Down syndrome, skeletal or renal disorders

(Source: Coloboma of Macula; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

Who gets Coloboma of Macula? (Age and Sex Distribution)

• Coloboma of Macula is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Coloboma of Macula? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Coloboma of Macula
• However, it may be seen in association with the following disorders, in some cases:
  • Down syndrome
  • Certain bone disorders and kidney disorders

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Coloboma of Macula? (Etiology)

The exact cause of development of Coloboma of Macula is presently unknown.

What are the Signs and Symptoms of Coloboma of Macula?

The signs and symptoms of Coloboma of Macula may include:

• Macular coloboma: Well-circumscribed, oval or rounded, usually unilateral, atrophic lesions of varying size presenting rudimentary or absent retina, choroid and sclera located at the macula
• This leads to decreased vision and, on occasion, other symptoms (such as strabismus)

(Source: Coloboma of Macula; Orphanet, National Institute of Health and Medical Research (INSERM), Paris.)

How is Coloboma of Macula Diagnosed?

Coloboma of Macula is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Eye examination
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Coloboma of Macula?

• The complications of Coloboma of Macula may include vision loss
• Complications may occur with or without treatment, and in some cases, due to treatment also

How is Coloboma of Macula Treated?

There is no cure for Coloboma of Macula. The treatment is usually given to manage the signs and symptoms and any complications that develops.

How can Coloboma of Macula be Prevented?

• Currently, Coloboma of Macula may not be preventable, since the cause of this disorder is unknown.
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Coloboma of Macula? (Outcomes/Resolutions) 

• The prognosis of Coloboma of Macula is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Coloboma of Macula:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/