Stargardt’s disease

Stargardt’s disease is the genetic sickness in which macular’s function is handicapped.

Symptoms usually appear in young age (i.e. before age 20) and include wavy vision, loss of visual
sharpness (at the outset in the centre of the field), dark adaptation delays and eventually - complete
visual impairment. Stargardt’s disease can be confirmed, if yellow flecks can be observed around
the macula. It affects approximately 1 in 10,000 new-born children.

You send people signals all day, without paying attention

to them. The way you move your eyes, the way you shake
a hand and so on. There are things you can do to send
subconscious signals using body language that make
people like you better, or at least give you the benefit of
the doubt. Whenever I discuss techniques like these there
are always one or two people who feel uncomfortable
with ‘influencing’ someone with psychological tricks.
There are three types of the disease caused by mutations in several genes. The most common form
of Stargardt disease is STGD1 (the recessive form) caused by mutations in the ABCA4 gene. There
is also a rare dominant form of the disease - STGD3 - caused by mutations in the ELOVL4 gene,
and STGD4 - associated with PROM1.
The mutation of ABCA4 gene, located at the short arm of chromosome 1, in STGD1 leads to the
malfunction of ABCA4 protein (i.e. ATP-binding cassette, sub-family A, member 4) which is a
transmembrane channel transporter protein. ABCA4 protein takes part in the visual phototransduc-
tion cycle, where it facilitates transfer of N-retinyl-phosphatidylethanolamine (NR-PE, vitamin A de-
rivative) across a membrane and when is defective, the process of removal is impeded and toxic
vitamin NR-PE dimers are being formed. Those dimers form lipofuscin (appears as yellow flecks)
which damages the retinal cells, hence are considered as the direct cause of the visual problems
during the STGD1.

There is no treatment for the disease, however it was discovered that reduction of vitamin A
intake may cause the disease not to aggravate. Ophthalmologists recommend also wearing blue-
light blocking glasses and hats outdoors.
The most promising therapy utilizes embryonic (pluripotent) stem cells, which are being injected into
patient’s eye to protect and regenerate photoreceptors in the retina. Trials in humans have shown
that there is an improvement in vision and no harmful side effects.