Complications

Complication
Timeframe
Likelihood
long term
high

Due to late diagnosis, patients may describe night blindness and poor vision, which are symptoms of retinitis, a disease sequelae. Dietary supplementation is warranted to prevent worsening disease. Referral to an ophthalmologist for assessment and treatment is necessary. Vitamin E can, in rare cases, reverse neurologic and retinal sequelae.

Retinitis pigmentosa

long term
high

If undiagnosed and untreated, cerebellar and spinal cord degeneration may occur. Symptoms may include ataxia and spasticity. Referral to a neurologist is essential, with physical therapy evaluation and treatment as well. Dietary supplementation is warranted. Vitamin E can, in rare cases, reverse neurologic and retinal sequelae.

Evaluation of ataxia

long term
low

In rare cases liver disease may progress to cirrhosis requiring liver transplantation.[15][17][18]

Use of this content is subject to our disclaimer