20-year-old male with molecularly confirmed Stargardt disease (ABCA4 mutation). Note the diffuse yellow pisciform flecks within the arcades and central macular mottling in both eyes.
Ed Stone, MD, PhD teaches the following:
A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy.
Most common mutation is Gly1961Glu
If patients are 20/40, then they'll be 20/200 in 5 years on average.
Patients have exuberant response to incidental ocular trauma- keloid scars in macular. Avoid contact sports.
FFA demonstrates masked choroid.
Heidelberg autofluoresence is present.
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