Nonpreserved amniotic membrane transplantation for bilateral toxic keratopathy caused by topical anesthetic abuse: a case report

<p>Abstract</p> <p>Introduction</p> <p>Corneal damage associated with abuse of topical anesthetics is a rare clinic entity. Topical anesthetic abuse is one of the causes of ring keratitis. Ring keratitis is easily overlooked because it can mimic acanthamoeba keratitis or other infectious keratitis. The outcome is often poor, leading to persistent epithelial defects, corneal scarring, and perforations.</p> <p>Case presentation</p> <p>We report the clinical presentation, diagnosis, and treatment of a 65-year-old Caucasian man, who worked as a health care worker, with bilateral toxic keratopathy caused by topical anesthetic abuse. Nonpreserved amniotic membrane transplantation was performed for both eyes of the patient.</p> <p>Conclusion</p> <p>It is important to identify and treat patients who abuse topical anesthetics before permanent vision loss ensues. Nonpreserved amniotic membrane transplantation may be useful in relieving pain and improving corneal surface in anesthetic agent abusers.</p

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.

Granular dystrophy Groenouw type I (CDGG1), Reis-Bucklers (CDRB), lattice type I (CDL1) and Avellino (ACD) are four 5q31-linked human autosomal dominant corneal dystrophies. Clinically, they show progressive opacification of the cornea leading to severe visual handicap. The nature of the deposits remains unknown in spite of amyloid aetiology ascribed to the last two. We generated a YAC contig of the linked region and, following cDNA selection, recovered the beta ig-h3 gene. In six affected families we identified missense mutations. All detected mutations occurred at the CpG dinucleotide of two arginine codons: R555W in one CDGG1, R555Q in one CDRB, R124C in two CDL1 and R124H in two ACD families. This suggests, as the last two diseases are characterized by amyloid deposits, that R124 mutated kerato-epithelin (the product of beta ig-h3) forms amyloidogenic intermediates that precipitate in the cornea. Our data establish a common molecular origin for the 5q31-linked corneal dystrophies

Genome-wide association study identifies three novel loci in Fuchs endothelial corneal dystrophy

The structure of the cornea is vital to its transparency, and dystrophies that disrupt corneal organization are highly heritable. To understand the genetic aetiology of Fuchs endothelial corneal dystrophy (FECD), the most prevalent corneal disorder requiring transplantation, we conducted a genome-wide association study (GWAS) on 1,404 FECD cases and 2,564 controls of European ancestry, followed by replication and meta-analysis, for a total of 2,075 cases and 3,342 controls. We identify three novel loci meeting genome-wide significance (P<5 × 10-8): KANK4 rs79742895, LAMC1 rs3768617 and LINC00970/ATP1B1 rs1200114. We also observe an overwhelming effect of the established TCF4 locus. Interestingly, we detect differential sex-specific association at LAMC1, with greater risk in women, and TCF4, with greater risk in men. Combining GWAS results with biological evidence we expand the knowledge of common FECD loci from one to four, and provide a deeper understanding of the underlying pathogenic basis of FECD