Case Report

  • At 9-years-old, very subtle retinal pigmentary changes in the posterior pole of both eyes were observed.
    • Vision remained 20/20 OD/OS.

 

  • Around this age, he was diagnosed with panhypopituitarism and he developed cerebellar ataxia that continued to progress.
    • The patient began falling off his bike at 11-years-old and it became severe enough that he stopped riding.

 

  • His antipsychotic medication for seizures was discontinued, as it was suspected that it was causing the retinal atrophy.
    • However, the dermatological and retinal changes continued despite the switch in medication.