Ocular findings in a case of hereditary ochronosis

Abstract

The histopathological examination of an eye from a case of hereditary ochronosis is described. This is the fourth such account in the literature and the first examina-tion of an ochronotic globe removed during the life of the patient. The eye showed thrombotic glaucoma, which had led to enucleation, and ochro-nosis, characterized by intense golden-brown pigmentation in the anterior sclera in the horizontal plane at 3 and 9 o'clock, extending from the limbus to the region of the ora serrata. These areas showed swollen vermiform fibres in the episclera, granular masses lying immediately beneath, a deeply pigmented sclera, and amber structureless globules at the limbus. The staining reactions of these various components are reported in detail and reasons are given for supposing that the vermiform fibres are probably degenerate elastic fibres, while the staining reactions of the granular masses and pigmented sclera may have been due to ''elastotic degeneration'' of collagen. The nature of the limbal globules is unknown.