Medical Information
National Eye Institute, National Institutes of Health

Congenital Cataract

Eye & Vision
Women's Health
Contributed byMaulik P. Purohit MD MPHSep 11, 2023

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

  • Infantile Cataract
  • Lens Opacity at Birth
  • Pediatric Cataract

What is Congenital Cataract? (Definition/Background Information)

  • Congenital Cataract is an inherited disorder that results in cloudiness of the eye lens in children. The size of the cataract often determines the amount of vision lost and the necessary treatment options
  • The predisposing factors for Congenital Cataract may include a family history of genetic disorders that generally accompany Congenital Cataract, such as Trisomy 13, Trisomy 21, ectodermal dysplasia syndrome, and congenital rubella
  • The exact cause of Congenital Cataract is currently unknown. However, it is known that the disorder is genetically inherited and can present alongside other birth defects
  • The signs and symptoms of the condition include cloudiness of the pupil, unusual rapid eye movement, and a sense of unawareness with regards to one’s surroundings, especially if the condition is bilateral
  • The possible complications of Congenital Cataracts include inflammation, infection, and bleeding of the eye that may occur due to cataract removal surgery. The surgery can also result in the detachment of the retina and/or development of glaucoma, due to high eye pressure
  • Congenital Cataract is generally treated via cataract removal surgery; nevertheless, the performance of the surgery is dependent on the severity of the symptoms. The prognosis for this eye disorder is good, if detected and treated early
  • There is no definitive method to prevent Congenital Cataract. Genetic testing and counseling of the expectant parents can help understand the risks for the disorder better

Who gets Congenital Cataract? (Age and Sex Distribution)

  • Studies have shown that Congenital Cataracts are found in about 0.4% of all births (1 in 250 births)
  • The condition is capable of affecting both males and females
  • Race and ethnicity do not affect the probability of attaining Congenital Cataracts.
  • It also occurs in both the developed and developing countries, regardless of geographic location

What are the Risk Factors for Congenital Cataract? (Predisposing Factors)

The risk factors that contribute to Congenital Cataract formation may include the following:

  • Family history of Congenital Cataract is a significant risk factor
  • Infants with family histories of genetic disorders that generally accompany Congenital Cataract are also at a higher risk. Such genetic disorders may include:
    • Trisomy 13
    • Pierre-Robin syndrome
    • Marinesco-Sjogren syndrome
    • Lowe syndrome
    • Hallermann-Streiff syndrome
    • Galactosemia
    • Ectodermal dysplasia syndrome
    • Down syndrome
    • Conradi-Hunermann syndrome
    • Congenital Rubella
    • Chondrodysplasia syndrome

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases ones 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 Congenital Cataract? (Etiology)

The etiology of Congenital Cataract is genetic. However, the exact cause is not found in many cases due to the rare nature of this disorder.

  • Congenital Cataract can be caused by infection as in the case of Rubella or Toxoplasmosis
  • Metabolic disorders, such as galactokinase deficiency, can also contribute to its development
  • Congenital Cataracts can often present alongside other birth defects including the following:
    • Trisomy 13
    • Pierre-Robin syndrome
    • Marinesco-Sjogren syndrome
    • Lowe syndrome
    • Hallermann-Streiff syndrome
    • Galactosemia
    • Ectodermal dysplasia syndrome
    • Down syndrome
    • Conradi-Hunermann syndrome
    • Congenital Rubella syndrome
    • Chondrodysplasia syndrome

What are the Signs and Symptoms of Congenital Cataract?

The signs and symptoms of Congenital Cataract that is manifested in children may include the following:

  • There may be gray or white colored cloudiness of the pupil, which contrasts with the normal black color of the pupil
  • An infant with Congenital Cataract may display signs of ‘being unaware’ with regards to his/her surroundings, if the cataract develop in both the eyes
  • There may be a missing red-eye pupil glow in photographs, due to opacity of the eye lens
  • Some children may display signs and symptoms of unusual rapid eye movement, also known as nystagmus

Signs and symptoms associated with underlying genetic disorders may also be present.

How is Congenital Cataract Diagnosed?

Tests and exams that are used in the diagnosis of Congenital Cataract may include:

  • Complete physical examination with comprehensive medical history (of the parents)
  • A complete eye exam conducted by an eye specialist
  • An examination of the infant by a child specialist (such as a pediatrician) who is experienced in treating genetic disorders
  • Upon physical examination by a healthcare professional, additional tests may be required for diagnosis such as blood tests or X-ray scans
  • Diagnostic tests to evaluate underlying genetic disorders, if any, may be undertaken

What are the possible Complications of Congenital Cataract?

  • Many complications with respect to Congenital Cataract are due to cataract removal surgery that is used in treating the condition. These complications include increased risks for:
    • Inflammation of the eye
    • Infection of the eye
    • Bleeding of the eye
  • Children who undergo cataract removal surgery for Congenital Cataract are more prone to developing other forms of cataracts later on in life, in the untreated eye
  • Cataract removal surgery for infants may have complications such as the development of high eye pressure, eventually leading to secondary glaucoma
  • Retinal detachment can occur due to the surgery
  • The anesthesia utilized during the cataract removal surgery may present safety concerns, as well as complications in an infant

The inherited genetic disorders associated with Congenital Cataracts may present complications involving other body organs and systems. 

How is Congenital Cataract Treated?

The treatment of Congenital Cataract depends upon the severity of the symptoms being experienced by the child.

  • If the condition is mild and does not affect the vision, then treatment may not be necessary
  • Moderate to severe symptoms of Congenital Cataracts, which worsens the vision or impedes the quality of life, may require surgery to remove the cataract
    • Studies have suggested that the most optimal time for the cataract removal surgery in an infant is from 6 weeks to 3 months of age
    • Upon removal of the cataract through a surgical procedure, the condition may still require correction through contact lenses, eyeglasses, or a surgically-implanted lens (known as an intraocular lens)
  • If the Congenital Cataract is caused by a genetic disorder, then the infant may require suitable treatment for the underlying disorder

How can Congenital Cataract be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Congenital Cataract disorder, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Congenital Cataracts

What is the Prognosis for Congenital Cataract? (Outcomes/Resolutions)

  • In general, the prognosis of Congenital Cataract is good. However, the overall prognosis depends upon the severity of the underlying signs and symptoms causing Congenital Cataract
  • If detected early, Cataract in Children can be removed through a safe and effective surgical procedure, which makes the prognosis better
  • Following cataract removal surgery, the child may require vision rehabilitation sessions in order to increase the likelihood of an excellent prognosis

Additional and Relevant Useful Information for Congenital Cataract:

  • There is an ongoing debate regarding the use of surgically-implanted lens in infants, due to the concerns of normal eye development
  • The implanted intraocular lens also require to be changed due to the nature of eye development, as the child grows and develops
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Maulik P. Purohit MD MPH

Assistant Medical Director, Medical Editorial Board, DoveMed Team


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