1/4. Ocular 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 primers flanking all 14 exons of the HGO gene. Fragments showing aberrant mobility were directly sequenced. RESULTS: Two homozygous missense mutations, L25P and M368V, were identified, each of which leads to the replacement of a highly conserved amino acid in the HGO protein. CONCLUSIONS: The authors describe a novel mutation, L25P, in the German population and bring to 18 the total number of known HGO mutations.- - - - - - - - - - ranking = 1keywords = ochronosis (Clic here for more details about this article) |
2/4. Ocular ochronosis: A case report and clinical findings.PURPOSE: To report a rare case of bilateral asymmetrical melanin-like pigments found in the cornea, conjunctiva and sclera. methods: Systemic investigation with clinical and laboratory analysis. RESULTS: The case was diagnosed as one of alkaptonuria and ocular ochronosis.- - - - - - - - - - ranking = 1keywords = ochronosis (Clic here for more details about this article) |
3/4. Ocular ochronosis from alkaptonuria.alkaptonuria is an extremely rare, autosomal recessive disorder in which the metabolic enzyme homogentisic acid oxidase is deficient. A common sequelae is the subsequent accumulation of homogentisic acid in collagenous tissues, such as the sclera, nose and ear lobes. The blue-black pigmentation found in patients with alkaptonuria is called ochronosis. Another ocular sign includes amber-colored oil globulation within Bowmans membrane of the cornea.- - - - - - - - - - ranking = 1keywords = ochronosis (Clic here for more details about this article) |
4/4. Alkaptonuric ochronosis: report of two affected brothers.Alkaptonuric ochronosis is a rare inborn metabolic disorder. Because of the deficient activity of the enzyme homogentisic acid oxidase, homogentisic acid accumulates in plasma, is deposited in various tissues and is excreted in large amounts in urine. Dark brown discoloration of urine on exposure to air or after addition of alkaline solution is characteristic. We describe two brothers with typical alkaptonuric ochronosis with dark urine, blue pigmentation of auricles and axillae, focal brown hyperpigmentation of sclerae, and anthropathy.- - - - - - - - - - ranking = 1.2keywords = ochronosis (Clic here for more details about this article) |