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

Clinical features:

• • bullseye maculopathy
• • vermillion (orange) fundus and masked choroid
• • pisciform flecks (due to lipofuscin A2E deposits) → If flecks are seen, then patients will usually decline to 20/200 vision within 1 year
• • patients with no flecks do much better, but may develop flecks later-- less than 20/200 vision in 5 yrs after becoming 20/40.

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.

OMIM #248200, #600110, #603786