Juvenile Macular Degeneration

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When we think of macular degeneration, older people usually come to mind. At one time the disease was referred to as "senile macular degeneration" and later renamed "age-related macular degeneration." Although most cases of macular degeneration occur in older people, there is a type of macular degeneration that occurs in young people called juvenile macular degeneration. Some refer to the disease as macular dystrophy.

Juvenile macular dystrophy or degeneration refers to diseases that are inherited and affect young people and children. Usually, the person that inherits the disease receives a recessive gene from each parent. Juvenile macular degeneration affects the macula, the part of the retina that gives us central, sharp, detailed vision. It does not affect side vision or peripheral vision. People who develop juvenile macular degeneration lose central vision but do not go blind. There are two main forms of juvenile macular degeneration: Stargardt's disease and Vitelliform macular dystrophy.

Stargardt’s Disease

Stargardt’s disease is the most common form of juvenile macular dystrophy affecting 1 in 10,000 children in the United States. Named after Karl Stargardt, a German eye physician, the disease was discovered in 1901. Stargardt’s disease can be diagnosed as early as six years of age and is usually seen before the age of twenty.

It is possible to have the disease and not know it until you are almost 40 years of age. It affects males and females equally.

Diagnosis of Stargardt’s Disease

In Stargardt’s, there is a genetic defect that causes the photoreceptors, sensitive cells in the retina that capture light energy, to slowly die.

The death of these cells reduces central vision and color vision. As the disease progresses, the choroid, the layer below that nourishes the retina, begins to change. Small, yellow flecks begin to appear in the peripheral part of the retina. Researchers named this appearance fundus flavimaculatus. These yellow spots are a buildup of a fatty substance called lipofuscin (normally cells can dispose of this).

Symptoms of Stargardt's disease include the following:

  • Blurred central vision
  • Blind spots that may come and go
  • Distorted vision
  • Straight lines becoming wavy
  • Difficulty seeing in the dark
  • Decreased color vision
  • Light sensitivity

Vision loss comes on very slowly until the vision degrades to about 20/40 - 20/50. Vision loss then progresses at a faster pace until vision is about 20/200, which is considered legally blind. Peripheral vision is unaffected.

Treatment of Stargardt’s Disease

Significant treatment for Stargardt’s disease does not exist at this time. However, continuing studies are showing hopeful gains in treatment options using stem cells and gene therapy. Although vitamin supplements are very effective in treating age-related macular degeneration, doctors warn against taking supplements, especially vitamin A, in people with Stargardt’s.

Although scientists say that one should not worry about getting too much vitamin A from their diet, they should not take more supplements with extra vitamin A.

It is known that vitamin A may increase the fat accumulation in retinal cells and possibly speed vision loss. People with Stargardt’s disease are missing an enzyme to metabolize byproducts correctly. Doctors do recommend certain lifestyle modifications including wearing sunglasses or wide-brimmed hats when going into the bright sun. They also recommend avoiding second-hand smoke and for smokers to quit smoking altogether.

Treatment for vision loss is focused on using low-vision aids such as hand-held lenses or magnifiers and electronic systems to enlarge print such as closed-circuit video magnification systems.

Nowadays, electronic devices such as tablets can greatly enhance lives because the font size of reading material can simply be enlarged. Psychological counseling plays a large role in Stargardt's also because vision loss can sometimes ensue in people in their 20’s. People that lose vision at such an early age often become very emotional and depressed because they quickly lose their independence.

Vitelliform Macular Dystrophy

The second most common form of juvenile macular degeneration is Vitelliform macular dystrophy, also referred to as Best Disease. Best disease was discovered in 1905 by Frederich Best, also a German eye doctor. Vitelliform macular dystrophy also causes a loss of our central, sharp, detailed vision. Vitelliform macular dystrophy is also passed on by a gene and affects people at a much younger age than Stargardt’s disease.

There are really two forms of Vitelliform macular dystrophy. It is referred to as Best disease when it onsets at a very early age, usually at an average age of 6. However, the condition often goes undetected for several years because visual acuity may not decrease for quite some time. In this form, lipofuscin builds up in the macula. As time goes by, it builds up to a degree that begins to damage the cells and affect central vision.

Symptoms of Vitelliform Macular Dystrophy

Your eye doctor will detect a build-up of lipofuscin in the macula (or the central retina). This build-up looks like a mass of a yellow fatty tissue that resembles an egg yolk. This can be seen easily in a routine eye examination. Vision loss may or may not be a sign of the disease as it varies considerably for every person suffering from the disease. People may complain of the same symptoms as Stargardt’s disease. However, the speed at which it happens varies in each individual. Significant symptoms are more apparent when the lipofuscin egg-yolk appearance begins to break up.

Although vision loss varies considerably in individuals suffering from Vitelliform macular dystrophy, the condition does follow distinct stages

  • Stage 1 - Previtelliform Stage - In this stage, visual acuity is at a 20/20 normal level. There may be subtle pigmentary changes in the macula. Testing is normal.
  • Stage 2 - Vitelliform Stage - In this stage, vision may vary from 20/20 to 20/50 and the typical round egg yolk looking appearance develops in the macula. Visual impulses begin to become disrupted.
  • Stage 3 - Pseudohypopyon Stage - Vision may still be in the 20/20 to 20/50 range. The egg yolk blob of lipofuscin begins to leak fluid and accumulate under the retina. This stage is often seen in teenagers with the dystrophy.
  • Stage 4 - Vitelliruptive Stage - Vision can worsen to 20/100. At this stage, the egg yolk turns into a scrambled egg. This causes clumps of retinal pigment and scarring to occur in the macula.
  • Stage 5 - Atrophic Stage - Vision may drop to 20/200 or worse at this stage. The scrambled egg begins to disappear but it leaves the retina in a worsened state. In this stage, it actually looks similar to age-related macular degeneration.
  • Stage 6 - Choroidal neovascular - In this stage, small, leaky blood vessels grow which can cause swelling and a significant scar at or below the macula.

Treatment of Vitelliform Macular Dystrophy 

Treatment options vary for the disease but all are aimed at stopping late stages of choroidal neovascularization. Most treatment involves monthly injections of a drug class called anti-VEGF or anti-vascular endothelial growth factor. These do not cure the condition but rather provide short-term visual improvement. Mounted or handheld telescopes are also prescribed for viewing distant objects. Handheld magnifiers and electronic devices are also used for reading.

A Word From Verywell

Although there is no cure for these conditions, ongoing clinical research is taking place in the field of genetics and stem cell therapy that may hold promise for individuals that inherit these genetic conditions. Juvenile macular degeneration is quite rare, but a diagnosis can be made earlier if regular, routine medical eye examinations take place. It is important that they begin at a very early age.

Be sure to tell your pediatrician and your eye doctor of any other inherited genetic conditions that you or family members suffer from to better assist your physicians in optimal diagnoses. It is important to note that Juvenile macular degeneration does not cause total blindness. Only central vision will be affected. Peripheral vision remains intact. Although the condition is extremely upsetting, younger people usually adapt to their condition quickly and lead extremely productive lives.


Too Young for AMD?  Dunbar, Mark, October 15, 2011, Review of Optometry
Recognizing Best’s Disease, Voxuan, Lily, December 2, 2010, Review of Optometry