sábado, 13 de septiembre de 2014

Stargardt disease

Stargardt disease, or fundus flavimaculatus, is an inherited form of juvenile macular degeneration that causes progressive vision loss usually to the point of legal blindness. The progression usually starts between the ages of six and twelve years old and plateaus shortly after rapid reduction in visual acuity. Several genes are associated with the disorder. Symptoms typically develop by twenty years of age, and include wavy vision, blind spots, blurriness, impaired color vision, and difficulty adapting to dim lighting..
Genetics
Stargardt disease is associated with several different genes:

STGD1: The most common form of Stargardt disease is the recessive form caused by mutations in the ABCA4 gene. It can also be associated with CNGB3.
STGD3: There is also a rare dominant form of Stargardt disease caused by mutations in the ELOVL4 gene.
STGD4: Associated with PROM1.

The classification "STGD2" is no longer...

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