Juvenile macular degeneration (JMD), also called juvenile macular dystrophy, refers to a group of inherited eye disorders that can affect children and teens.

While the various forms of JMD act differently, they all damage the macula, a part of the retina. The macula is responsible for our central vision and allows us to see sharp details.

Currently, JMD has no cure. It can result in permanent vision loss over time, although some people maintain stable vision for decades. Getting a timely diagnosis can help children cope and learn to manage vision loss.

We’ll break down symptoms of the main JMD types, their causes, and what options exist for management.

According to the American Academy of Ophthalmology (AAO), the 3 main types of JMD are:

  • Stargardt disease
  • X-lined retinoschisis
  • Best’s disease (vitelliform macular dystrophy)

All forms of juvenile macular degeneration cause changes to central vision, but symptoms and progression vary widely. Some children will notice a decline in their vision, while others won’t uncover changes until an eye exam. The speed of vision loss also varies.

Stargardt disease

Stargardt disease is the most common form of JMD and is often what people are referring to when they talk about juvenile macular degeneration. It affects around 1 in 10,000 births.

This disease occurs when fatty deposits (lipofuscin) pile up on the macula instead of being cleared away by the body.

Children with Stargardt disease typically experience a slow loss of their central vision in both eyes, although the time can vary, according to the National Eye Institute (NEI). It’s very common for children with this form of JMD to notice changes in their vision before even having an eye exam.

According to the AAO, other symptoms include:

  • sensitivity to light
  • spots in the center of your vision
  • color blindness
  • trouble adjusting to sudden light changes

X-linked juvenile retinoschisis

According to 2012 research, this disease is linked to a mutation in the X chromosome, so it usually affects those assigned male at birth.

X-linked juvenile retinoschisis (XLRS) is often identified before children are old enough for school and has even been diagnosed in infants.

Children may have trouble seeing the blackboard or reading in class, and glasses do not improve their vision, according to the National Organization for Rare Disorders.

Some children with XLRS may also develop:

  • nystagmus (squinting and involuntary movements of the eye)
  • farsightedness (close-up things appearing blurry)
  • strabismus (when eyes are crossed or don’t line up in the same direction)

Vision loss due to XLRS varies. Some people have stable vision for most of their lives, while others experience rapid vision loss within their first decade or two.

Best vitelliform macular dystrophy

Also known as Best’s disease or BVMD, this form of JMD usually affects both eyes, although it’s possible that only one will be affected. If both eyes are involved, one usually experiences more symptoms than the other.

A hallmark sign of Best’s is the presence of a yellowish deposit resembling an egg yolk in the macula, according to 2022 research.

A person with this disease will often experience a slow decline in their visual acuity. However, it can be asymptomatic at first and go unnoticed until a doctor detects it during a routine eye exam. Many people with Best’s disease can have stable vision for decades and continue to drive.

Mutations to one or more genes cause all juvenile macular degeneration types.

Stargardt disease

Stargardt disease occurs due to changes to a gene called ABCA4 that affects how your body uses Vitamin A, according to the National Eye Institute.

When fatty materials (lipofuscin) build up on the macula, ABCA4 is supposed to make a protein to clean it up. Due to mutation, the gene can’t perform this function.

Lipofuscins build up and eventually kill light-sensitive cells called retinal pigment epithelium (RPE), according to a 2021 review. This leads to central vision loss.

X-linked retinoschisis

According to a 2017 review, X-linked retinoschisis (XJR) develops as a result of mutations to the RS1 gene, which is located on the X-chromosome. The RS1 gene produces a protein called retinoschisin, which is believed to help with the maintenance of the retina.

This type of JMD only shows up in individuals with XY chromosomes, typically found in male people. People with XX chromosomes, typically found in female people, can be carriers of this mutation but usually won’t have symptoms.

Occasionally, there will be a case of X-linked retinoschisis that’s not linked to an RS1 mutation. Experts are not sure what causes these cases.

Learn more about genes and chromosomes here.

Best vitelliform macular dystrophy

Best vitelliform macular dystrophy is caused by a mutation to a gene known as vitelliform macular dystrophy 2 (VMD2) or bestrophin (BEST1).

It’s considered an autosomal dominant genetic condition, which means that only one copy of the mutated gene is necessary to cause the condition. It can affect anyone, regardless of sex.

Best’s occurs in approximately 1 in every 10,000 people, with onset typically occurring between the ages of 5 and 10 years of age.

Currently, there’s no cure for juvenile macular degeneration.

Timely treatment can help with strategies for managing vision loss. Addressing any other eye disorders or conditions can also help improve and preserve vision.

Researchers are working hard to study better treatment options. Many gene therapy clinical trials are ongoing in hopes of developing treatments to address the mutated genes causing vision loss, according to AAO.

These treatments, called gene therapy, may be able to slow the progression of these diseases and preserve some vision.

If you are interested in learning more about clinical trials or having your child participate in one, you can explore ClinicalTrials.gov.

Doctors often recommend strategies to help people with JMD get the most out of their vision and keep their eyes as healthy as possible.

These can include:

  • using sun protection (sunglasses, hat, umbrellas)
  • using low vision aids and devices
  • using assistive technologies, including talk-to-text software
  • adaptive training, like learning to use peripheral vision for certain tasks

Eating a balanced diet and getting plenty of exercise are also associated with good eye health in general!

Mental health

Experiencing vision change or loss can be stressful and upsetting for anyone.

Children and teens will need emotional support from family and friends while they manage JMD. You may also consider consulting a therapist to help them with coping techniques, stress relief, and more.

Learn more about different types of therapy and how they can help.

JMD is different than age-related macular degeneration (AMD), a common eye condition that affects people as they age.

Juvenile macular degeneration is always inherited and caused by a gene mutation. By contrast, age-related macular degeneration can have a genetic component but often doesn’t. Usually, AMD is caused by natural wear and tear on the macula due to the body’s aging.

It’s important to be attentive to a child’s vision development. This is especially true if eye disorders run in their family. Take your child to routine eye exams and have them evaluated if they complain about blurriness, spotting, or any other changes in vision.

If your child has AMD, it’s possible to maximize their vision by protecting their eyes and using adaptive technologies and low vision tools. Consider reaching out to a therapist to provide further support to your child or teen emotionally and psychologically as they cope.

There’s no cure for juvenile macular degeneration, but the extent and speed of vision loss vary widely. Not everyone with JMD experiences total vision loss, and some people maintain stable vision for years or decades.