Stargardt’s Disease (Fundus Flavimaculatus)

While macular degeneration usually is related to aging eyes, an acquired kind known as Stargardt’s disease can impact youngsters and young adults.

Stargardt’s disease – also called fundus flavimaculatus or Stargardt’s macular dystrophy (SMD)– affects roughly one in 10,000 people and is characterized by main vision loss early in life. (Some scientists believe a difference must be made between Stargardt’s illness and fundus flavimaculatus, due to the fact that they state each describes a various variant of the eye illness.)

Stargardt’s typically describes a group of acquired diseases causing light-sensitive cells in the inner back of the eye (retina) to degrade, particularly in the area of the macula where fine focusing happens. Central vision loss likewise happens, while peripheral vision normally is maintained.

Stargardt’s condition is detected by the presence of little, yellow-colored spots of deteriorating tissue (drusen) sloughed off from the colored or outer treatment of the retina (retinal pigment epithelium). Progressive vision loss eventually leads to blindness most of the times.

What Causes Stargardt’s Disease?

Stargardt’s is an acquired disease passed along to kids when both moms and dads come with anomalies of a gene connected with vitamin A processing in the eye. Moms and dads can carry recessive hereditary traits responsible for Stargardt’s, even though they themselves might not have the condition.

Scientists have discovered that about 5 percent of the human population carry gene mutations triggering inherited retinal diseases such as Stargardt’s and retinitis pigmentosa.

How Fast Does Stargardt’s Progress?

Vision loss from Stargardt’s generally starts to show up within the very first 20 years of a young adult’s life, particularly in early youth.

However it’s hard to pinpoint exactly when retinal damage will happen or how quick it will progress, due to the fact that variations can occur even among member of the family with similar acquired tendencies.

For instance, one study reported in the May 2006 problem of American Journal of Ophthalmology noted the case of 3 siblings, two of whom revealed signs of retinal condition in early childhood. However the 3rd sibling was affected beginning at around age 19.

In many cases, an individual with Stargardt’s (particularly the fundus flavimaculatus version of the condition) might reach midlife prior to vision issues are discovered.

The reference book Ophthalmology notes that vision loss from Stargardt’s as determined on a basic eye chart can vary between 20/50 and 20/200. (In the United States, legal blindness is specified as visual skill of 20/200 or even worse while wearing corrective lenses.) Those who have the fundus flavimaculatus form of the illness, nevertheless, are likely to experience much more severe vision loss.

What are the symptoms of Stargardt condition?

Symptoms of Stargardt’s condition can consist of blurry or distorted vision, failure to see in low lighting and difficulty recognizing familiar faces. In late phases of Stargardt’s, color vision also may be lost.

The most typical symptom of Stargardt illness is variable, frequently sluggish loss of main vision in both eyes. Individuals with the disease may observe gray, black, or hazy spots in the center of their vision, or that it takes longer than normal for their eyes to change when moving from light to dark environments. Their eyes may be more sensitive to brilliant light. Some individuals also develop color blindness later in the illness.

The development of symptoms in Stargardt disease is different for each person. People with an earlier beginning of condition have the tendency to have more fast vision loss. Vision loss might reduce slowly initially, then worsen quickly until it levels off. The majority of people with Stargardt disease will wind up with 20/200 vision or even worse. People with Stargardt illness might also start to lose a few of their peripheral (side) vision as they age.

Can Stargardt’s Disease Be Prevented or Treated?

Some research study shows that exposure to brilliant light might contribute in activating the retinal damage that occurs with Stargardt’s. While there is no known treatment for Stargardt’s illness at this time, individuals with the condition often are recommended to wear spectacles or sunglasses that obstruct 100 percent of UV light to minimize the possibility of additional eye damage caused by the sun.

If you have Stargardt’s, your eye doctor also might recommend that you wear spectacles with specifically tinted lenses to block specific wavelengths of light.

One company establishing a treatment for Stargardt’s disease is Advanced Cell Technology (ACT). In March 2010, the company received an orphan drug classification from the U.S. FDA for a stem cell treatment created to protect and regenerate photoreceptors in the retina that are harmed by eye conditions like Stargardt’s.

The stem cells have been tested in animal models of eye disease, chief clinical officer Robert Lanza, MD, stated in a company statement launched in November 2010.

“In rats, we’ve seen 100 percent enhancement in visual performance over untreated animals with no unfavorable results,” Lanza stated. “Our studies revealed that the cells were capable of extensive rescue of photoreceptors in animals that otherwise would have gone blind. Near-normal function was also accomplished in a mouse design of Stargardt’s condition. We want to see a similar advantage in patients with various kinds of macular degeneration.”

In July 2012, ACT supplied an update of its Phase I/II medical trial to assess the safety and tolerability of the treatment. That month, the fourth patient in the research got an intraocular injection of 100,000 human embryonic stem cell-derived retinal pigment epithelial (RPE) cells. The very first 3 patients in the research study got injections of 50,000 cells.

An overall of 12 Stargardt’s patients will take part in the research, with cohorts of three patients each in an ascending dosage format. Results of the research study will be launched when all participants have actually been followed for a period of 12 months after receiving the injections.

Studies recommend aggregation or “clumping” of vitamin A in the retina might be associated both with Stargardt’s illness and age-related macular degeneration (AMD). These clumpy deposits are referred to as “vitamin A dimers.”

In studies conducted at Columbia University Medical Center (New York) in 2011, researchers produced an altered kind of vitamin A that appears to slow the development of vitamin A dimers in the eye when provided to mice with the exact same genetic problem as people with Stargardt’s condition.

Also, the modified vitamin A behaved precisely as regular vitamin A performs in all other aspects, making it an appealing capacity treatment for preventing loss of sight in human beings, the researchers stated.

The research study group was led by led by Ilyas Washington, PhD, a professor in the department of ophthalmology at Columbia’s Harkness Eye Institute. Dr. Washington’s lab has been awarded a $1.25 million grant from the National Eye Institute to further examine the link between vitamin A dimers and various retinal degenerations, which could lead to brand-new techniques to treat these illness.

Alkeus Pharmaceuticals (Cambridge, Mass.) has certified from Columbia particular patents connecting to Dr. Washington’s discoveries and plans to introduce scientific trials for the treatment of Stargardt’s illness and AMD in the near future.

Dealing with Stargardt’s Disease

The American Macular Degeneration Foundation advises that people with Stargardt’s or a history of the eye condition in close relative acquire hereditary counseling before beginning their own households.

Since vision loss frequently appears in young children with Stargardt’s, low vision therapy from your eye doctor is necessary to ensure that classroom knowing is not hampered. For instance, a child with Stargardt’s may have to make use of large print books and unique devices that multiply print.