UBIAD1 mutation alters a mitochondrial prenyltransferase to cause Schnyder corneal dystrophy.

Background: Mutations in a novel gene, UBIAD1, were recently found to cause the autosomal dominant eye disease Schnyder corneal dystrophy (SCD). SCD is characterized by an abnormal deposition of cholesterol and phospholipids in the cornea resulting in progressive corneal opacification and visual loss. We characterized lesions in the UBIAD1 gene in new SCD families and examined protein homology, localization, and structure.

Autoshaping in the rat: conditioned licking response to a stimulus that signals sucrose reinforcement.

The present experiments were designed to determine if repeated presentations of an empty sipper tube (the conditioned stimulus or CS) with the response-independent delivery of a sucrose solution (the unconditioned stimulus or US) from a second spout results in the development of Pavlovian conditioned responding. In Experiment 1, rats in the experimental condition received paired CS-US presentations whereas subjects in the control condition were exposed to random presentations of CS and US. In Experiment 2, an additional control condition (CS alone) was included and, to encourage generalized responding between the US and CS, the CS tube was filled with water for all groups.

Lodoxamide tromethamine treatment for superior limbic keratoconjunctivitis.

Purpose: We studied the efficacy of topically applied lodoxamide tromethamine 0.1% in the treatment of superior limbic keratoconjunctivitis.

Methods: Three patients with clinical findings of bilateral superior limbic keratoconjunctivitis.

Scleral ectasia secondary to Acanthamoeba keratitis.

An unrecognized case of Acanthamoeba keratitis became quiescent after prolonged scleritis, resulting in a central corneal scar with extensive scleral ectasia. Twenty-one months after the onset of the sclerokeratitis, a penetrating keratoplasty was performed. Acanthamoeba cysts were found in the host corneal button.

Ocular disease from wearing contact lenses. A potentially devastating complication.

Because of the continued popularity of contact lenses in the United States, ocular inflammatory diseases are being encountered with increasing frequency by both ophthalmologists and primary care physicians. Distinction between minor noninfectious inflammation and serious, sight-threatening infection is crucial to the proper management of these patients. Symptoms of infectious keratitis are pain and loss of vision.

Experimental trachoma in subcutaneous conjunctival autografts in macaques.

To study chlamydial conjunctivitis, conjunctival autografts subcutaneously implanted in pockets on the abdomens of rhesus (Macaca mulatta) and pig-tailed (M. nemestrina) monkeys were inoculated percutaneously (4-10 X 10(4) inclusion-forming units per pocket) with trachoma strains of Chlamydia trachomatis (serovars B & C). These conjunctival pockets were removed on days 2, 3, 4, 5, 6, 7, 8, 10, 14 and 16 post-inoculation (pi).

Congenital iris cysts.

Unilateral, spontaneous, non-pigmented iris cysts appeared before the age of 2 years in four patients. Histopathological specimens obtained in three cases showed stratified to cuboidal, non-pigmented, epithelial lined cysts. Goblet cells were recognised in two of the three specimens.

Light-induced maculopathy. Potential for recovery.

Operating room microscope-induced maculopathy is described in two patients following cataract surgery without intraocular lens implantation. Sequential fundus photographs of evolving retinal lesions are presented. Serial visual field testing disclosed marked recovery of paramacular scotomas over time.

Donor corneal endothelial striae.

Excessive traction during excision of donor corneoscleral buttons can result in damage or death to corneal endothelial cells. This damage manifests as multiple peripheral and, less commonly, central striae or stretch marks that correspond to linear opacities at the level of the endothelium. The striae consist of parallel lines of degenerate endothelium, each line three to eight cells wide, and stain readily with trypan blue, which is indicative of cell damage or death.

Radial keratotomy complicated by sterile keratitis and corneal perforation. Histopathologic case report and review of complications.

A 35-year-old physician had radial keratotomy (RK) for correction of myopia. Combined radial and transecting circumferential incisions were used which resulted in wound gape, persistent epithelial defect, and severe sterile keratitis. Progressive corneal decompensation required an initial patch graft followed by a penetrating keratoplasty four months after RK.

Contamination of corneal tissue from infected donors.

Thirty-two corneas with scleral rims were cultured from the eyes of 17 cadavers that harbored systemic infection at the time of death. Twelve (71%) of 17 cadavers demonstrated corneal contamination from one or both corneas. Eleven (92%) of 12 donors with positive postmortem blood cultures had positive corneal cultures from at least one eye.

Patterns of superficial keratopathy.

Corneal surface abnormalities are commonly encountered in ophthalmology and are manifestations of a wide range of underlying disease processes. The diversity of both clinical presentation and morphological appearance requires a systematic approach to the identification and management of these superficial corneal changes. Accurate diagnosis of superficial keratopathy requires skillful observation to seek the most characteristic clinical sign, a deductive thought process based on a knowledge of disease patterns, and occasionally the use of laboratory procedures to confirm the working diagnosis.

Herpes simplex chorioretinitis in a healthy adult.

A previously healthy 20-year-old man developed bilateral chorioretinitis that included mild anterior uveitis, vitreous cells, multifocal chorioretinitis, and optic nerve swelling that progressed to severe optic neuropathy in one eye. Chorioretinal biopsy specimens cultured herpes simplex type 1 from separate chorioretinal and vitreous samples. Although the visual acuity of one eye remained at light perception, sight in the second eye was saved when treatment with systemic acyclovir and corticosteroids led to resolution of the inflammation.

Herpetic eye disease.

Herpetic keratitis is a common condition which can produce severe complications. The pattern of disease created by the virus depends on an interaction of virus and host mediated mechanisms. The changes in the epithelium are a consequence of the cytopathic effect of the virus and are related directly to virus replication.