Abstract

A 55-year-old male presented with a history of joint pains for the past few years. The patient was receiving treatment for arthritis from some other institute. He attended the ophthalmology OPD for a routine ocular checkup, which revealed classical ‘Oslers sign’ specific to Alkaptonuria (AKU). Physical examination also revealed pigmentary changes in the skin. Complete workup lead to the diagnosis of AKU. The joint manifestations were a part of this inborn error of metabolism and not routine arthropathies. We report this case to highlight that inborn errors of metabolism can go undetected for many years if a high degree of suspicion is not there on part of the treating physician.

Keywords: Alkaptonuria; Ocular; Systemic