Atlas Entry - 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

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Stargardt's Disease (macular dystrophy)

Contributor: Andrew Doan, MD, PhD

Fundus Bullseye maculopathy — 1) Bullseye maculopathy.

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Fundus Pisciform flecks in the retina — 2) Pisciform flecks in the retina.

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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

Stargardt Disease and an Optic Disc Pit

Category(ies): Inherited Eye Diseases,Retina / Vitreous

Contributor: Lauren A. Tomlinson MD; Tina Hendricks MS MD

Photographer: Alexandra Copple

Posted: 06/02/2025

25 year old female with autosomal recessive ABCA4 Stargardt Disease. BCVA with correction 20/160+2 OD and 20/125-1 OS. Fundus exam notable for central macular atrophy and pisciform flecks in both eyes with an inferonasal optic disc pit in the left eye. There was no evidence of maculopathy on OCT imaging.