Juvenile Macular Degeneration

The macula is located in the center of the retinathe recessive gene - which means they do not
in the back of the eye. It is responsible for ourknow that they are carriers. The responsible
detailed and straight ahead vision - the vision thatgene, ABCR, has recently been identified which will
is needed for seeing faces, driving and reading.be useful for future gene therapy.
Peripheral or side vision is usually not affected. ItUnfortunately, there are few clinical trials for the
is not blindness.different forms of juvenile macular degeneration.
There are several forms of juvenile macularAt this time (January 2009) there are none that
degeneration - all of them affect the macula, theare actively recruiting.
tiny spot in the back of the retina and all areThis study sponsored by the National Eye institute
associated with a genetic mutation.was completed in early 2008 and we are still
Best Disease is also known as vitelliform macularwaiting to hear the conclusions.
dystrophy. This disease is hereditary and isEffect of DHA Supplements on Macular Function in
passed on by a gene. The diagnosis is usuallyPatients With Stargardt Macular Dystrophy and
made during childhood or adolescence. There areStargardt-Like Macular Dystrophy
several stages to this macular dystrophy."As our North American diet is poor in DHA, we
1) A yellow cyst forms under the retinal pigmenthypothesize that a DHA dietary supplement might
epithelium (RPE) which is a layer under the maculaimprove macular function in individuals with the
- vision often remains normal for many yearsELOVL4 mutation. Since the effect of DHA
2) The cyst ruptures and the fluid and yellowsupplementation may be non-specific, we propose
deposits flood the RPEto study a second cohort with Stargardt macular
3) Fluid and deposits cause a degeneration of thedystrophy, which has a different genotype
RPE and the macula causing central vision lossinvolving a different metabolic pathway in the eye,
The patient still has peripheral vision.but presents with a similar phenotype. Two
Stargardt's disease is the most common form ofcohorts of up to 10 subjects for analysis will be
juvenile macular degeneration. It was firstrecruited from patients with either Stargardt-like
discovered in 1901 by a German ophthalmologist,macular dystrophy or Stargardt macular
Karl Stargardt. This genetic form of maculardystrophy.
dystrophy is the result of both parents carrying