منابع مشابه
Ocular Findings in a Case of Hereditary Ochronosis.
THE literature apparently contains only four pathological examinations of the eye in hereditary ochronosis, and all of very recent date. The first two were carried out on biopsy material (Seitz, 1954; Rodenhiiuser, 1957) and the other two on the whole eye (Rones, 1960; Allen, O'Malley, and Straatsma, 1961). An ochronotic eye enucleated because of a mistaken diagnosis of malignant melanoma was e...
متن کاملAlkaptonuric Ochronosis.
Alkaptonuria is an autosomal recessive metabolic disorder characterized by joints and spine involvement, ochronosis and presence of homogentisic acid in urine and its deposition in cartilage, intervertebral disc and other connective tissues, leading to disabling arthritis in elderly individual.
متن کاملIn Vivo Confocal Microscopy and Anterior Segment Optic Coherence Tomography Findings in Ocular Ochronosis
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...
متن کاملOcular ochronosis in alkaptonuria patients carrying mutations in the homogentisate 1,2-dioxygenase gene.
AIMS To assess the involvement of the recently identified human homogentisate 1,2-dioxygenase gene (HGO) in alkaptonuria (AKU) in two unrelated patients with ochronosis of the conjunctiva, sclera, and cornea. METHODS A mutation screen of the entire coding region of the HGO gene was performed using single stranded conformational analysis after polymerase chain reaction with oligonucleotide pri...
متن کاملOn the ocular findings in ochronosis: a systematic review of literature
BACKGROUND Ochronosis/Alkaptonuria is a tyrosine metabolism disorder where accumulation of homogentisic acid, in eye, skin, cartilage and several other connective tissues leads to a black pigmentation of the affected tissues. It is autosomal-recessive inherited in men with a frequency of 1-9/1,000,000. While it is clear that pigment deposits lead to joint destruction, renal stone formation and ...
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ژورنال
عنوان ژورنال: Deutsches Aerzteblatt Online
سال: 2018
ISSN: 1866-0452
DOI: 10.3238/arztebl.2018.0286a