Stargardt’s disease

Stargardt’s disease is most common retinal dystrophy or a genetic disorder due to a genetic mutation that affects central vision. The layer beneath the light-sensitive retina namely the choroid becomes sick and full of debris called lipofuscin. The choroid is responsible for the turnover and maintenance of light-sensitive cells called photoreceptors.

Age of onset

The age of onset is in the second decade and patients present with difficulty in reading. Patients with Stargardt disease will never be blind as they will always have  peripheral  vision to navigate with( walking around)

Loss of central vision means a smudge in the center of your vision and an inability to recognise faces, to read or write well. The area of the eye with the best reading ability – called the macula – becomes mostly affected by the disease (macula dystrophy).

Genetics :

Stargardt’s disease does not run in families, it’s an autosomal recessive disorder so both parents need to carry the mutated gene for the disease to be expressed.

Diagnosis:

It’s a high index of suspicion.

There are some macular changes that can be appreciated during a slit lamp examination (snail tract maculopathy).

Fluoresceine angiogram  shows a silent choroid (dark choroid).

Treatment :

There is no cure for this disease. On the horizon is the possibility of stem cell transplant.

The disease is named after Karl Stargardt a German Ophthalmologist born in Berlin ( 1875-1927) who first described this disease.