EyeRounds Online Atlas of Ophthalmology

Contributor:
Andrew Doan, MD, PhD, University of Iowa

Category: Retina
Diagnosis: Stargardt's Disease (macular dystrophy)

Image Comments:

1) Bullseye maculopathy.
2) Pisciform flecks in the retina.
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 yr
- 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.

 

 

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