Ювенильная макулярная дистрофия

Macular degenerations are retinal diseases of genetic origin that cause an early degeneration of the macula. It affects adults, young people or even children, it all depends on the severity of the damage caused by this genetic anomaly.

The macula deteriorates and collapses affecting vision and causing a loss of vision that may be important and reach legal blindness.

It is a hereditary disease and, therefore, different from age-related macular degeneration (AMD), which is caused by the aging of the body.

This disorder can manifest itself in various forms such as Stargardt’s disease, Best’s vitelliform macular dystrophy and juvenile retinoschisis.

What is juvenile macular degeneration?

This disease consists of the deterioration of the macula of the eye. The macula is the part of the retina responsible for the central vision and allows us to see fine and small details clearly.

The macula is much more sensitive to detail than the rest of the retina (peripheral retina, allows lateral vision) and, therefore, if it is affected, the quality of vision is reduced.

When the macula is affected, the central vision is lost and causes unfocused vision and lack of sharpness.

Who can develop this disorder?

It is a hereditary disease, so it is transmitted from parents to children.

  • In the case of Stargardt’s disease, being recessive, it is only inherited if the two parents are affected by the gene.
  • In the case of Best’s vitelliform macular dystrophy, it can be suffered even if only one of the parents is affected.
  • Juvenile retinoschisis is a disease linked to the X chromosome and, therefore, affects males, but it is transmitted from mother to child.

What are the symptoms of juvenile macular degeneration?

Some of the symptoms of juvenile macular degeneration can be:

  • Problems in the central vision that make it difficult to perform activities such as reading small print or traffic signs or threading a needle.
  • Blurred, distorted vision with dark areas.
  • Photophobia (sensitivity to light)
  • Display of black and gray spots.
  • Yellowish flecks around the macula.
  • Impairment of color perception.

Symptoms appear during childhood and / or adolescence and can affect one or both eyes. Lateral vision is not usually affected.

In some cases, patients can maintain useful vision for decades (Best’s vitelliform macular dystrophy) and, in other cases, vision can be lost to legal blindness (Stargardt’s disease).

How is this disorder diagnosed?

Normally, in Stargardt’s disease small yellow spots are visualized in the macula that may extend outwards.

On the other hand, patients with Best’s vitelliform macular dystrophy have a yellowish cyst under the macula, like an egg yolk that, over time, breaks down and looks like a scrambled egg.

Patients with juvenile retinoschisis have a retina that separates into two layers, with spaces between the layers that can be filled with cysts and blood vessels, which can break and cause hemorrhages. This tearing of the layers of the retina can cause a retinal detachment.

What tests are done to diagnose macular degeneration?

  • The ophthalmologist will perform an ocular dilatation test in order to observe the retina and be able to confirm that there are specific signs related to this disorder.
  • The ophthalmologist can also perform a fluorescein angiogram to confirm the diagnosis and, if needed, recommend an ERG (electroretinography) to measure the electrical activity of the retina.
  • More recent tests such as optical coherence tomography (OCT) and autofluorescent retinography provide complementary information of great importance, especially to objectify the progression of the disease.

Treatment for macular degeneration

To this day, there is no treatment to prevent or stop this disorder.

It is important to wear sunglasses with ultraviolet protection, it is recommended to avoid supplements with vitamin A, and it is advisable to perform mobility exercises for patients to adapt to vision loss.

Medical content revised by - Last revision 05/02/2024

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