Purpose. To report clinical and in vivo confocal microscopy (IVCM) findings of two patients with ocular ochronosis secondary due to alkaptonuria. Materials and Methods. Complete ophthalmologic examinations, including IVCM (HRT II/Rostock Cornea Module, Heidelberg, Germany), anterior segment optical coherence tomography (AS-OCT) (Topcon 3D spectral-domain OCT 2000, Topcon Medical Systems, Paramu...

Alkaptonuria (McKusick 203500) is a rare metabolic disease characterized by a triad of homogentisic aciduria, arthritis and ochronosis. It enjoys the historic distinction of being one of the first conditions in which mendelian recessive inheritance was proposed and is also one of the conditions in the charter of group of inborn errors of metabolism. It is of interest to note that the disease wa...

Alkaptonuria is believed to have been described as early as 1584 (Garrod 1923). Marcet in 1823 (Rose 1957) recorded the case ofa patient whose urine caused black stains on the clothing. An accurate account of the condition was given by Boedeker (1859), who described a patient with glycosuria in whom a second reducing substance was found in the urine. This he named “alkapton” on account of its b...