Alkaptonuria and Ochronosis

Abstract

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Ocular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene

“…Involvement of the ocular tissue is widespread in AKU and was, for instance, found in all but one of 82 cases reviewed by Smith in 1942 17. Furthermore, ocular ochronosis usually precedes the appearance of articular symptoms and was the first manifestation of ochronosis in 70.5% of 119 Slovakian patients 18. In addition, the differential diagnosis of blue black scleral pigmentation includes malignant melanoma of the choroid and there is at least one tragic instance in which ochronotic pigment deposition was misdiagnosed as melanosarcoma and the patient’s only eye was enucleated 19…”

Ochronotic spondylarthropathy: two case reports of progressive destructive changes in the hip

“…In a series of peripheral joints affected in ochronotic arthropathy, the frequency was 64% in knees, 43% in shoulders, and 35% in hips. 10 Degenerative hip arthropathy in ochronosis has been biomechanically related to idiopathic atrophic osteoarthritis. 11 The rapid disappearance of the femoral head was initially reported in two cases of ochronosis.…”

Alkaptonuria and Ochronosis

“…The X-ray examination shows a severe, in some patients destructive coxarthrosis. Červeňanský et al [9] describe ochronotic enthesopathy in the hip area and highlight the selective deposition of the ochronotic pigment in the tendons.…”