Long-Range PCR and Nanopore Sequencing Enables High-Throughput Detection of TCF4 Trinucleotide Repeat Expansions in Fuchs Endothelial Corneal Dystrophy.

Introduction: Trinucleotide repeat expansion in CTG18.1, in intron 2 of TCF4 (MIM *602272, #613267), is the main cause of Fuchs endothelial corneal dystrophy (FECD), accounting for around 75% of cases in Caucasians. CTG18.

Repeat corneal collagen cross-linking after failure of primary cross-linking in keratoconus.

Background: Primary corneal collagen cross-linking (CXL) stabilises 96% of progressive keratoconus. There is limited evidence for the treatment of choice when this fails. We present 10 years of repeat CXL and compare with our published experience of primary CXL to (1) identify perioperative risk factors of primary CXL failure and (2) demonstrate the safety and efficacy of repeat CXL.

Repeated Intracameral Amphotericin B: A Safe Approach for Management of Fungal Anterior Chamber Reactivations After Therapeutic Penetrating Keratoplasty.

Purpose: The aim of this study was to describe the safe use of repeated intracameral amphotericin B for anterior chamber reactivations after therapeutic penetrating keratoplasty for Fusarium solani keratitis.

Methods: A 49-year-old woman monthly soft contact lens wearer with a history of overuse and swimming in her lenses presented with a red painful left eye. Her vision was 0.

Late-onset peripheral ulcerative sclerokeratitis associated with alkali chemical burn.

Purpose: To report delayed-onset peripheral ulcerative keratitis (PUK) following alkali injury.

Design: Retrospective case series.

Methods: setting: Single institution (Cornea and External Disease Service, Moorfields Eye Hospital).

Cataract surgery outcome in eyes with keratoconus.

Background: To review the refractive outcome of cataract surgery in eyes with keratoconus.

Methods: We retrospectively reviewed the medical records of 64 consecutive patients (92 eyes) who underwent cataract surgery with implantation of a spherical intraocular lens (IOL). We recorded the method of refractive correction and the effect of the keratometry (K) on the biometry prediction error (BPE).

Endothelial cell survival and graft profile analysis in descemet stripping endothelial keratoplasty.

Purpose: To report the results of descemet stripping endothelial keratoplasty (DSEK) for a single-surgeon, consecutive case series.

Method: All patients undergoing DSEK at our institution from 2006 to 2007 under the care of a single consultant ophthalmologist were enrolled. This was a nonrandomized, retrospective case series.

Macular dystrophy associated with the Arg172Trp substitution in peripherin/RDS: genotype-phenotype correlation.

Purpose: To document the evolution of geographic atrophy in the peripherin/RDS Arg172Trp substitution, provide age-related estimates of visual acuity, and compare with other missense mutations with a similar phenotype (Arg142Trp, Arg172Gln, and Arg195Leu).

Methods: Total area of geographic atrophy in 18 affected individuals with the peripherin/RDS Arg172Trp substitution was measured from retinal photographs and plotted as a function of age. Visual acuity data from these individuals were collated with previously published cases of Arg172Trp substitution to obtain age-related estimates of visual acuity.

Diagnostic surprise in an evisceration specimen.

Aims And Purpose: To report a rare ocular tumor discovered incidentally after evisceration of a painful blind eye.

Methods: Observational case report.

Results: A 67-year-old Caucasian lady presented for elective evisceration of chronically irritable phthisical right eye.

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

Congenital hereditary endothelial dystrophy (CHED) is a heritable, bilateral corneal dystrophy characterized by corneal opacification and nystagmus. We describe seven different mutations in the SLC4A11 gene in ten families with autosomal recessive CHED. Mutations in SLC4A11, which encodes a membrane-bound sodium-borate cotransporter, cause loss of function of the protein either by blocking its membrane targeting or nonsense-mediated decay.

Poststreptococcal syndrome uveitis: a descriptive case series and literature review.

Purpose: To describe the clinical features in a series of patients with poststreptococcal uveitis and to review literature on the pathophysiology and management.

Design: Retrospective and descriptive case series.

Participants: Ten consecutive cases of poststreptococcal syndrome uveitis diagnosed between 1996 and 2003.

Pharmacological studies on mechanisms of aminophylline-induced seizures in rats.

In the present study, the possible role of free radicals in aminophylline-induced seizures was evaluated in albino rats. Aminophylline (theophylline in ethylene diamine; 50 - 300 mg/kg) induced convulsions in rats in a dose-dependent manner, and both incidence of seizure and mortality were maximum at 300 mg/kg. Conventional anti-epileptics, diphenylhydantoin and dizocilpine, as well as adenosine agonists were ineffective in antagonizing these seizures.

Canaliculitis: the incidence of long-term epiphora following canaliculotomy.

Purpose: To review the long-term outcome following surgical treatment for canaliculitis.

Methods: All cases of canaliculitis treated surgically from January 1995 to December 2001 were identified from theatre records. Case notes were reviewed retrospectively looking specifically for delay in diagnosis (defined as two or more visits prior to diagnosis), culture results and outcome following surgical treatment.