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Ophthalmology and Visual Sciences

Stargardt disease

Stargardt disease

Category(ies): Genetics, Inherited Eye Disease, Retina
Contributor: Jeffrey D. Welder, MD
Photographer: D. Brice Critser, CRAt

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)

Stargardt's Disease (macular dystrophy)

Contributor: Andrew Doan, MD, PhD
Fundus Bullseye maculopathy
1) Bullseye maculopathy.
Fundus Pisciform flecks in the retina
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 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