PURPOSE Hyaluronan (HA) is a disaccharide polymer capable of binding considerable amounts of water. It is present in trace amounts on the cornea endothelium, and it is not normally found in the epithelium or stroma. A specific histochemical stain was used to test for HA in a wide variety of corneal disorders. METHODS. Eighty-six human corneal tissue specimens were examined histochemically for H...

BACKGROUND Avellino corneal dystrophy (ACD) is an autosomal dominant disorder, characterized by the presence of deposits in the anterior stroma, and results from a specific mutation (R124H) in the transforming growth factor beta-induced gene (TGFBI). This report presents corneal dystrophy of the Bowman layer as a rare phenotypic appearance of ACD and a high intra-familial variability of phenoty...

A 15-year-old boy with juvenile rheumatoid arthritis (JRA) and end-stage CKD was referred to us for renal replacement therapy. He was previously under follow-up with a paediatric unit. JRA was diagnosed at the age of 3/2 years when he developed polyarthritis and uveitis. He received steroids, sulphasalazine, non-steroidal anti-inflammatory drugs, calcium supplements (calcium phosphate) and vita...

PURPOSE To characterize the molecular defects in the TGFBI gene in a Chinese family with an unusual phenotype of Reis-Bücklers corneal dystrophy (RBCD). METHODS Three generations of the family with RBCD were enrolled in the present study. In addition to ophthalmologic examinations, polymerase chain reaction (PCR) amplification and nucleotide sequencing of exons of TGFBI were performed. Exon 1...

OBJECTIVE The aim was to compare the corneal topography and tomography parameters of macular corneal dystrophy (MCD), granular corneal dystrophy (GCD) and lattice corneal dystrophy (LCD) patients obtained by Scheimpflug imaging system. METHODS The charts, photographs and topography images of patients were reviewed retrospectively. This study included 73 eyes of 73 patients (28 MCD, 20 GCG and...

CONGENITAL corneal opacities vary greatly in extent and location and are usually associated with other anomalies of the anterior segment. Although a variety of clinical terms, such as cornea plana, sclerocornea, Rieger's anomaly, Axenfeld's syndrome, has been used to describe these anomalies, recent evidence (Goldstein and Cogan, 1962) suggests that they are all closely related entities. Theodo...

We analyzed the genetic defect in a 67-year-old Japanese male patient with apolipoprotein (apo) A-I and high density lipoprotein (HDL) deficiencies, corneal opacities, and coronary artery disease. The plasma concentrations of apoA-I and HDL cholesterol were 2.9 to 7.3 mg/dL and 0.08 to 0.19 mmol/L, respectively. The lecithin:cholesterol acyltransferase (LCAT) activity and cholesterol esterifica...

PURPOSE To present a case with posterior segment findings in a patient with cloudy corneas secondary to immunotactoid glomerulonephritis (ITG). METHODS A 57-year-old female was known to have bilateral cloudy corneas diagnosed 12 years ago secondary to immunotactoid glomerulonephritis. Clinically, fundus examination was difficult to visualise due to the density of her corneal opacities. RESU...

It is likely that Hurler's syndrome, Morquio's syndrome, and the Morquio-Ullrich syndrome result from inborn errors of muco-polysaccharide metabolism. The classification of the three groups on the basis of purely clinical criteria may be superseded when more information is available about the basic biochemical lesions. It is current practice (Nelson, 1964) to call those cases with the character...