Stargardt's disease / fundus flavimaculatus
 

A patient with prominent yellow flecks and macular changes

The posterior pole contains yellow flecks with indistinct border (so called fish scale or pisciform lesions,  the lesions are lipofuscin found within the RPE). There is retinal pigment epithelium atrophy in the fovea  (so called bronze beaten appearance, there may be exposure of the choroidal blood vessels). The condition  is an inherited bilateral disorders (autosomal recessive being the commonest and occasionally autosomal  dominant).  Other signs: yellowish flecks are not needed for the diagnosis of Stargardt's disease. In the central type of Stargardt's disease, the only lesion may be atrophic foveal lesions. Therefore, always include  Stargardt's disease in your differentiatial diagnosis in any young patients with bilateral macular  atrophy. .

Questions:

1. What is the differential diagnosis of Stargardt's disease?

Answer
fundus albipunctatus (numerous discrete white dots at the level of RPE which are scattered throughout the fundus. The macula is usually spared. There is night blindness but the central vision is not affected. The condition is autosomal recessive.)
reinitis punctate albescens (there is progressive visual field loss, retinal pigmentary changes and arteriolar narrowing)
familiar drusen (also called Doyne honeycomb dystrophy, it is autosomal dominant and there may be changes similar to age-related macular degeneration)
fleck retina of Kandori (there are large, irregular yellow flecks lesions which are non-progressive)
inverse retinitis pigmentosa beginning with posterior flecks
oxalosis.

2. What is the typical presentatio of Stargardt's disease?

Answer
The patient usually present with central visual loss in the first 15 years of life. The visual loss is usually rapid and typically over a 6 month period.

3. What is dark choroid and is it pathognomonic of  Stargardt's disease?

Answer
In Stargardt's disease, the choroidal circulation is not seen in the majority of patients during fluorescein angiography. This is thought to be the result of deposition of abnormal material at the level of RPE causing masking of choroidal fluorescene.
Dark choroid is not pathognomonic of Stargardt's disease as it can be seen in other conditions such as argyrosis.

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Dark choroid in a patient with early Stargardt's disease. Return to the top