University of Iowa Health Care

Ophthalmology and Visual Sciences

Stargardt disease

Contributor: Jeffrey D. Welder, MD

Photographer: D. Brice Critser, CRA

Stargardt Disease
Right Eye Left Eye
Stargardt Disease, right eye Stargardt Disease, left eye

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.

OMIM #248200, #600110, #603786

Stargardt's Disease (macular dystrophy)

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

February 8, 2008

Stargardt's Disease (macular dystrophy)

1) Bullseye maculopathy. (higher resolution not available)

Stargardt's Disease (macular dystrophy)

2) Pisciform flecks in the retina. (higher resolution not available)

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

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Ophthalmic Atlas Images by, The University of Iowa are licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.

last updated: 6/17/2013
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