Presumed ocular tuberculosis in the United Kingdom: a British Ophthalmological Surveillance Unit (BOSU) study.

INTRODUCTION: Ocular tuberculosis (TB) is an extrapulmonary manifestation of mycobacterium infection that most commonly presents as uveitis. This is the first prospective incidence study of presumed ocular tuberculosis performed in the United Kingdom (UK). METHOD: New cases of ocular tuberculosis presenting to hospitals in the UK were prospectively ascertained between October 2016 and November 2017 with the aid of the British Ophthalmological Surveillance Unit (BOSU). Initial presentation data and 1-year follow-up data was collected using questionnaires. RESULTS: Forty-eight patients were recruited giving an overall incidence for ocular TB of 0.73 per million population per annum. The origin of birth for 71% of the patients was a non-UK country and 87.5% had their initial diagnosis of TB made by an ophthalmologist. The most common first line treatment was isoniazid, rifampicin, ethambutol and pyrazinamide which 71% of patients were treated with 60% of patients were commenced on a reducing course of oral steroids. At 1-year follow-up, 29 patients (83%) had complete resolution of active clinical signs. Mean best corrected visual acuity (BCVA) at presentation was +0.41 LogMAR(SD = 0.62), compared to +0.31 LogMAR (SD = 0.56) at 12-month follow-up. DISCUSSION: It is increasingly the responsibility of the ophthalmologist to diagnose ocular TB and although it remains a rare condition, consensus on diagnostic criteria and treatment is required. Increasing recognition and accessibility to gamma-interferon testing should enable earlier detection. Treatment with quadruple ATT treatment regimens for at least 6 months shows good clinical outcomes. However, it is still unclear whether steroid use is beneficial. Further large studies with longer follow-up would be warranted to answer these questions.

Systematic review of differential methylation in rare ophthalmic diseases.

Rare ophthalmic diseases have a devastating impact on a patient's vision and consequently negatively affect their independence, ability to work and overall quality of life. Methylation is an important emerging biomarker of disease and may improve understanding of rare ophthalmic disorders. This systematic review sought to identify and evaluate literature on methylation and rare ophthalmic disease. MEDLINE, EMBASE, PubMed, Cochrane Database of Systematic Reviews and grey literature resources were searched for publications prior to 20 August 2019. Articles written in English which featured key terms such as 'methylation' and rare ophthalmic diseases were included. Titles, abstracts, keywords and full texts of publications were screened, as well as reference lists for reverse citations and Web of Science 'cited reference search' for forward citation searching. Study characteristics were extracted, and methodological rigour appraised using a standardised template. Fourteen articles were selected for full inclusion. Rare ophthalmic conditions include congenital fibrosis of extraocular muscles, retinitis pigmentosa, Fuchs endothelial corneal dystrophy, granular corneal dystrophy, choroideraemia, brittle cornea syndrome, retinopathy of prematurity, keratoconus and congenital cataracts. Outcomes include identification of methylation as contributor to disease and identification of potential novel therapeutic targets. The studies included were heterogeneous with no scope for meta-analysis following review; a narrative synthesis was undertaken. Differential methylation has been identified in a small number of rare ophthalmic diseases and few studies have been performed to date. Further multiomic research will improve understanding of rare eye diseases and hopefully lead to improved provision of diagnostic/prognostic biomarkers, and help identify novel therapeutic targets.