Alstrom syndrome medical therapy

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]

Medical Therapy

  • Red-tinted prescription lenses for photodysphoria
  • Healthy diet and regular exercise
  • Anti-congestive measures are employed for cardiomyopathy associated with congestive heart failure
  • Treatment of insulin resistance/type 2 diabetes is similar to that of in the general population.
  • Nicotinic acid derivatives can be used for hyperlipidemia.
  • Consultation with an endocrinologist is necessary if pubertal development and/or menses are abnormal (delayed milestones).
  • Treatment of chronic obstructive pulmonary disease and associated infection is as per the accepted guidelines.

Rod-Cone Dystrophy

  • Use of red-orange tinted prescription lenses may reduce symptoms early in the disease phase when photodysphoria is significant.
  • Instruction in the use of Braille, mobility training, adaptive living skills, and computing skills (including voice recognition and transcription software), and the use of large print reading materials while vision is still present are crucial.

References


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