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"Johnson, Gordon J"
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Detection of Narrow Angles and Established Angle Closure In Chinese Residents of Singapore: Potential Screening Tests
Purpose To assess the performance of peripheral and central anterior chamber depth (ACD) measurements, and autorefraction, in identifying Chinese people with occludable drainage angles or established primary angle closure. Design Population-based cross-sectional analysis. Methods Subjects aged 40 years and older were drawn from a representative sample of Chinese Singaporean residents. Limbal chamber depth (LCD) was estimated and central ACD was measured using optical pachymetry and ultrasound. An autorefraction was taken for all subjects. Angle width and the presence of peripheral anterior synechiae were determined by gonioscopy. Receiver operating characteristic curves were generated to show the performance of these tests in detecting occludable angles. Results A total of 1090 subjects were examined. The prevalence of occludable angles was 6.5%. LCD measurement performed best in detecting occludable angles (area under the curve 0.904, 95% confidence interval 0.870, 0.937). Optical pachymetry and ultrasound measurement of ACD performed less well (AUC 0.859 and 0.810, respectively), and autorefraction performed poorly in detecting occludable angles (AUC 0.632). LCD also gave the best performance in detecting primary angle closure (AUC 0.782, 95% CI 0.727, 0.837). Conclusions Limbal LCD estimation outperforms other methods of measuring ACD as a screening tool for the detection of occludable drainage angles in the Chinese population of Singapore.
Journal Article
The definition and classification of glaucoma in prevalence surveys
This review describes a scheme for diagnosis of glaucoma in population based prevalence surveys. Cases are diagnosed on the grounds of both structural and functional evidence of glaucomatous optic neuropathy. The scheme also makes provision for diagnosing glaucoma in eyes with severe visual loss where formal field testing is impractical, and for blind eyes in which the optic disc cannot be seen because of media opacities.
Journal Article
A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
Weill-Marchesani syndrome (WMS) is a rare disorder displaying short stature, brachydactyly and joint stiffness, and ocular features including microspherophakia and ectopia lentis. Brachydactyly and joint stiffness appear less commonly in patients with WMS4 caused by pathogenic ADAMTS17 variants. Here, we investigated a large family with WMS from Newfoundland, Canada. These patients displayed core WMS features, but with proportionate hands that were clinically equivocal for brachydactyly. Whole exome sequencing and autozygosity mapping unveiled a novel pathogenic missense ADAMTS17 variant (c.3068 G > A, p.C1023Y). Sanger sequencing demonstrated variant co-segregation with WMS, and absence in 150 population matched controls. Given ADAMTS17 involvement, we performed deep phenotyping of the patients' hands. Anthropometrics applied to hand roentgenograms showed that metacarpophalangeal measurements of affected patients were smaller than expected for their age and sex, and when compared to their unaffected sibling. Furthermore, we found a possible sub-clinical phenotype involving markedly shortened metacarpophalangeal bones with intrafamilial variability. Transfection of the variant ADAMTS17 into HEK293T cells revealed significantly reduced secretion into the extracellular medium compared to wild-type. This work expands understanding of the molecular pathogenesis of ADAMTS17, clarifies the variable hand phenotype, and underscores a role for anthropometrics in characterizing sub-clinical brachydactyly in these patients.
Journal Article
A novel, non-stop mutation in FOXE3 causes an autosomal dominant form of variable anterior segment dysgenesis including Peters anomaly
Anterior segment dysgenesis (ASD) is a spectrum of disorders that affect the anterior ocular chamber. Clinical studies on a Newfoundland family over the past 30 years show that 11 relatives have a variable ocular phenotype ranging from microcornea to Peters anomaly, segregating as an autosomal dominant trait. To determine the molecular etiology of the variable ASD in this family, we sequenced nine functional candidate genes and identified 44 variants. A point mutation in FOXE3, which codes for a transcription factor involved in the formation of the lens and surrounding structures, co-segregated with the variable ocular phenotype. This novel mutation (c.959G>T) substitutes the stop codon for a leucine residue, predicting the addition of 72 amino acids to the C-terminus of FOXE3. Two recent reports have also identified non-stop mutations in FOXE3 in patients with variable ocular phenotypes and predict an extended protein. Although FOXE3 is a lens-specific gene, we successfully isolated complementary DNA from lymphoblasts of an affected family member, and our sequencing results show that the c.959T allele is absent, suggesting that it may be degraded at the RNA level. Though preliminary, our results challenge the notion that an extended FOXE3 protein causes ASD, and instead suggests a mechanism of haploinsufficiency in the case of non-stop mutations. This study adds to several reports that suggest that autosomal-dominant mutations within FOXE3 cause ASD and has important clinical utility, especially for the diagnosis of mildly affected patients.
Journal Article
Improving outcome of cataract surgery in developing countries
Although cataract surgeries done in \"eye camps\" in India are not as successful as those done in real medical facilities, but they still constitute a large portion of cataract surgeries. This is because the real units cannot meet the demand.
Journal Article
Strategies for control of trachoma: observational study with quantitative PCR
Antibiotics are an important part of WHO's strategy to eliminate trachoma as a blinding disease by 2020. At present, who needs to be treated is unclear. We aimed to establish the burden of ocular Chlamydia trachomatis in three trachomaendemic communities in Tanzania and The Gambia with real-time quantitative PCR.
Conjunctival swabs were obtained at examination from 3146 individuals. Swabs were first tested by the qualitative Amplicor PCR, which is known to be highly sensitive. In positive samples, the number of copies of omp1 (a single-copy C trachomatis gene) was measured by quantitative PCR
Children had the highest ocular loads of C trachomatis, although the amount of pooling in young age groups was less striking at the site with the lowest trachoma frequency. Individuals with intense inflammatory trachoma had higher loads than did those with other conjunctival signs. At the site with the highest prevalence of trachoma, 48 of 93 (52%) individuals with conjunctival scarring but no sign of active disease were positive for ocular chlamydiae.
Children younger than 10 years old, and those with intense inflammatory trachoma, probably represent the major source of ocular C trachomatis infection in endemic communities. Success of antibiotic distribution programmes could depend on these groups receiving effective treatment.
Journal Article
Randomised controlled trial of screening and prophylactic treatment to prevent primary angle closure glaucoma
AimsTo determine if screening with an ultrasound A-scan and prophylactic treatment of primary angle closure (PAC) with laser peripheral iridotomy (LPI) can reduce the incidence of primary angle closure glaucoma (PACG) in Mongolia.MethodsA single-masked randomised controlled trial was initiated in 1999. 4725 volunteer Mongolian participants ≥50 years old from the capital Ulaanbaatar or the rural province of Bayankhongor were recruited, of which 128 were excluded with glaucoma. 4597 were randomly allocated to the control, no-screening arm or screening with ultrasound central anterior chamber depth (cACD), with the cut-off set at <2.53 mm. 685 screen-positive participants were examined and angle closure was identified by gonioscopy in 160, of which 156 were treated with prophylactic LPI. Primary outcome of incident PACG was determined using both structural and functional evidence from objective grading of paired disc photographs from baseline and follow-up, objective grading of follow-up visual fields and clinical examination.ResultsSix years later, 801 (17.42%) participants were known to have died, and a further 2047 (53.92%) were traced and underwent full ophthalmic examination. In an intention to treat analysis using available data, PACG was diagnosed in 33 participants (1.61%, 95% CI 1.11% to 2.25%), of which 19 were in the screened group and 14 in the non-screened group (OR 1.29, 95% CI 0.65 to 2.60, p=0.47), indicating no difference between groups.ConclusionsWe were not able to identify a reduction in the 6 year incidence of PACG after screening with cACD <2.53 mm and prophylactic treatment of PAC.
Journal Article
Re-emergence of Chlamydia trachomatis infection after mass antibiotic treatment of a trachoma-endemic Gambian community: a longitudinal study
Community-wide mass antibiotic treatment is a central component of trachoma control. The optimum frequency and duration of treatment are unknown. We measured the effect of mass treatment on the conjunctival burden of Chlamydia trachomatis in a Gambian community with low to medium trachoma prevalence and investigated the rate, route, and determinants of re-emergent infection.
14 trachoma-endemic villages in rural Gambia were examined and conjunctival swabs obtained at baseline, 2, 6, 12, and 17 months. Mass antibiotic treatment with azithromycin was given to the community at baseline. C trachomatis was detected by qualitative PCR and individual infection load then estimated by real-time quantitative PCR.
C trachomatis was detected in 95 (7%) of 1319 individuals at baseline. Treatment coverage was 83% of the population (1328 of 1595 people). The effect of mass treatment was heterogeneous. In 12 villages all baseline infections (34 [3%] of 1062 individuals) resolved, and prevalence (three [0·3%]) and infection load remained low throughout the study. Two villages (baseline infection: 61 [24%] of 257 individuals) had increased infection 2 months after treatment (74 [30%]), after extensive contact with other untreated communities. Subsequently, this value reduced to less than half of that before treatment (25 [11%]).
Mass antibiotic treatment generally results in effective, longlasting control of C trachomatis in this environment. For low prevalence regions, one treatment episode might be sufficient. Infection can be reintroduced through contact with untreated populations. Communities need to be monitored for treatment failure and control measures implemented over wide geographical areas.
Journal Article
Outcomes of cataract surgery in Pakistan: results from The Pakistan National Blindness and Visual Impairment Survey
Aim: To evaluate the outcomes of cataract surgery in Pakistan. Methods: Cross-sectional, nationally representative sample of 16 507 adults (aged ⩾30 years). Each underwent interview, logarithm of the minimum angle of resolution visual acuity (VA), autorefraction, examination of optic disc. Those with <6/12 VA on presentation underwent best-corrected VA and dilated biomicroscopic ocular examination. Results: 1317 subjects (633 men) had undergone surgery in one or both eyes. Of the 1788 operated eyes, 1099 (61%) had undergone intracapsular cataract extraction (ICCE) and 607 (34%) extracapsular surgery with an intraocular lens (ECCE+IOL). Presenting VA: 275 (15.4%) eyes: 6/12 or better; 253 (14.1) <6/12 ⩾6/18; 632 (35.3%) 6/18 to 6/60; 85 (4.8%): 6/60 to 3/60; 528 (29.5%): <3/60. With “best” refractive correction, these values were: 563 (31.5%), 332 (18.6%), 492 (27.5%), 61 (3.4%), 334 (18.7%), respectively. Of the 1498 eyes with VA ⩽6/12 on presentation, 352 (23.5%) were the result of coincident disease, 800 (53.4%) refractive error and 320 (21.4%) operative complications. Eye camp surgery (OR 1.72, p = 0.002), ICCE (OR 3.78; p<0.001), rural residence (OR 1.36, p = 0.01), female gender (OR 1.55, p<0.001) and illiteracy (OR 2.44, p<0.001) were associated with VA of <6/18. More recent ICCE surgeries were associated with a poorer outcome. The ratio of ECCE+IOL:ICCE in the last 3 years was 1.2:1, compared with 1:3.3 ⩾4 years before the survey. Conclusion: Almost a third of cataract operations result in a presenting VA of <6/60, which could be halved by appropriate refractive correction. This study highlights the need for an improvement in quality of surgery with a more balanced distribution of services.
Journal Article