Tuesday, June 19, 2018

Stargardt macular degeneration

In 1909, Karl Stargardt, a German ophthalmologist reported on an early-onset form of macular degeneration. Before that time, it was thought that macular degeneration was a single disease. The original report described seven patients from two families in whom a macular degeneration developed that had its onset present as a reduction in visual acuity, often with a normal fundus appearance, in the first or second decade of life. Male and female patients were equally affected. Their parents were normal and only the siblings were affected, suggesting an autosomal recessive inheritance.

Karl Stargardt was born in Berlin on 4 December 1875. He studied medicine in University of Kiel.

The gene responsible for autosomal recessive Stargardt disease was first identified in 1997 by Allikmets and colleagues. They disovered that Stargardt macular degeneration had a strong genetic component link the condition to a group of genes called ABC1 genes.

Since this discovery, molecular geneticists have identified over 800 different mutations in ABCA4 associated with Stargardt disease.

Stargardt macular degeneration is a genetic eye disorder that causes progressive vision loss. This disorder affects the retina, the specialized light-sensitive tissue that lines the back of the eye. Specifically, Stargardt macular degeneration affects a small area near the center of the retina called the macula.
Stargardt macular degeneration
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