Blood pressure and the hypertension care cascade in The Gambia: Findings from a nationwide survey.

Community treatment of hypertension in sub-Saharan Africa is hampered by gaps at several stages of the care cascade. We compared blood pressure (BP) levels (systolic, diastolic and pulse pressures) in four groups of participants by hypertension and treatment status. We conducted a nationally representative survey of adults 35 years and older using a multistage sampling strategy based on the 2013 Gambia Population and Housing Census. The BP measurements were taken in triplicate 5 min apart, and the average of the last two measurements was used for analysis. Systolic and diastolic BP levels and pulse pressure were compared by hypertension status using mean and 95% confidence intervals (CI). 53.1% of the sample were normotensive with mean systolic BP (SBP) of 119.2 mmHg (95% CI, 118.7-119.6) and diastolic BP (DBP) of 78.1 mmHg (77.8-78.3). Among individuals with hypertension, mean SBP was 148.7 mmHg (147.7-149.7) among those unaware of their hypertension, 152.2 mmHg (151.0-153.5) among treated individuals and was highest in untreated individuals at 159.3 mmHg (157.3-161.2). The findings were similar for DBP levels, being 93.9 mmHg (93.4-94.4) among the unaware, 95.1 mmHg (94.4-95.8) among the treated and highest at 99.1 mmHg (98.1-100.2) in untreated participants. SBP and DBP were higher in men, and SBP was as expected higher in those aged ≥55 years. BP level was similar in urban and rural areas. Our data shows high BP levels among participants with hypertension including those receiving treatment. Efforts to reduce the health burden of hypertension will require inputs at all levels of the care cascade.

Prevalence of hypertension, diabetes, obesity, multimorbidity, and related risk factors among adult Gambians: a cross-sectional nationwide study.

BACKGROUND: As countries progress through economic and demographic transition, chronic non-communicable diseases (NCDs) overtake a previous burden of infectious diseases. We investigated the prevalence of hypertension, diabetes, obesity, and multimorbidity in older adults in The Gambia. METHODS: We embedded a survey on NCDs into the nationally representative 2019 Gambia National Eye Health Survey of adults aged 35 years or older. We measured anthropometrics, capillary blood glucose, and blood pressure together with sociodemographic information, personal and family health history, and information on smoking and alcohol consumption. Hypertension was defined as systolic blood pressure of 140 mmHg or more, diastolic blood pressure of 90 mmHg or more, or receiving treatment for hypertension. Diabetes was defined as fasting capillary blood glucose of 7 mmol/L or more, random blood glucose of 11·1mmol/L or more, or previous diagnosis or treatment for diabetes. Overweight was defined as BMI of 25-29·9 kg/m2 and obesity as 30 kg/m2 or more. Multimorbidity was defined as the coexistence of two or more conditions. We calculated weighted crude and adjusted estimates for each outcome by sex, residence, and selected sociodemographic factors. FINDINGS: We analysed data from 9188 participants (5039 [54·8%] from urban areas, 6478 [70·5%] women). The prevalence of hypertension was 47·0%; 2259 (49·3%) women, 2052 (44·7%) men. The prevalence increased with age, increasing from 30% in those aged 35-45 years to over 75% in those aged 75 years and older. Overweight and obesity increased the odds of hypertension, and underweight reduced the odds. The prevalence of diabetes was 6·3% (322 [7·0%] women, 255 [5·6%] men), increasing from 3·8% in those aged 35-44 years to 9·1% in those aged 65-75 years, and then declining. Diabetes was much more common among urban residents, especially in women (peaking at 13% by age 65 years). Diabetes was strongly associated with BMI and wealth index. The prevalence of obesity was 12·0% and was notably higher in women than men (880 [20·2%] vs 170 [3·9%]). Multimorbidity was present in 932 (10·7%), and was more common in women than men (694 [15·9] vs 238 [5·5]). The prevalence of smoking was 9·7%; 5 (0·1%) women, 889 (19·3%) men. Alcohol consumption in the past year was negligible. INTERPRETATION: We have documented high levels of NCDs and associated risk factors in Gambian adults. This presents a major stress on the country's fragile health system that requires an urgent, concerted, and targeted mutisectoral strategy. FUNDING: The Queen Elizabeth Diamond Jubilee Trust and Wellcome Trust.

Evaluating the hypertension care cascade in middle-aged and older adults in The Gambia: findings from a nationwide survey.

Background: Hypertension is a major public health problem in sub-Saharan Africa with poor treatment coverage and high case-fatality rates. This requires assessment of healthcare performance to identify areas where intervention is most needed. To identify areas where health resources should be most efficiently targeted, we assessed the hypertension care cascade i.e., loss and retention across the various stages of care, in Gambian adults aged 35 years and above. Methods: This study was embedded within the nationally representative 2019 Gambia National Eye Health Survey of adults ≥35 years. We constructed a hypertension care cascade with four categories: prevalence of hypertension (defined as systolic blood pressure ≥140 mmHg and/or diastolic blood pressure ≥90 mmHg, and/or current use of medication prescribed for hypertension); those aware of their diagnosis; those treated; and those with a controlled blood pressure (defined as blood pressure <140/90 mmHg). Analyses were age- and sex-standardised to the population structure of The Gambia. Logistic regression was used to assess the socio-demographic factors associated with prevalence, awareness, treatment and control of hypertension. Findings: Of 9171 participants with data for blood pressure, the prevalence of hypertension was 47.0%. Among people with hypertension, the prevalence of awareness was 54.7%, the prevalence of hypertension treatment was 32.5%, and prevalence of control was 10.0% with little difference between urban and rural residence. The cascade of care performance was better in women. However, there was no difference in achieving blood pressure control between men and women who were receiving treatment. Female sex, older age and higher body mass index were associated with higher hypertension awareness whilst having an occupation compared to being unemployed was associated with higher odds of being treated. Patients in the underweight category had higher odds of achieving blood pressure control. Interpretation: There is a high prevalence of hypertension and low performance of the health care system that impact on the hypertension care cascade among middle-aged and older adults in The Gambia. Addressing the full cascade will be paramount especially in reducing the mounting prevalence and improving diagnosis of patients with hypertension, where the greatest dividends will be gained. Funding: The Queen Elizabeth Diamond Jubilee Trust, Wellcome Trust.

Prevalence of blindness and distance vision impairment in the Gambia across three decades of eye health programming.

BACKGROUND/AIMS: The 1986 Gambia National Eye Health Survey provided baseline data for a National Eye Health Programme. A second survey in 1996 evaluated changes in population eye health a decade later. We completed a third survey in 2019, to determine the current state of population eye health, considering service developments and demographic change. METHODS: We estimated prevalence and causes of vision impairment (VI) in a nationally representative population-based sample of adults 35 years and older. We used multistage cluster random sampling to sample 10 800 adults 35 and above in 360 clusters of 30. We measured monocular distance visual acuity (uncorrected and with available correction) using Peek Acuity. Participants with either eye uncorrected or presenting (with available correction) acuity <6/12 were retested with pinhole and refraction, and dilated exams were completed on all eyes by ophthalmologists using a direct ophthalmoscope, slit lamp and 90 D lens. RESULTS: We examined 9188 participants (response rate 83%). The 2013 census age-sex adjusted prevalence of blindness (presenting acuity<3/60 in better seeing eye) was 1.2% (95% CI 0.9 to 1.4) and of moderate or severe VI (MSVI,<6/18 to ≥3/60) was 8.9% (95% CI 9.1 to 9.7). Prevalence of all distance VI (<6/12) was 13.4% (12.4-14.4). Compared with 1996, the relative risk of blindness decreased (risk ratio 0.7, 95% CI 0.5 to 1.0) and MSVI increased (risk ratio 1.5, 95% CI 1.2 to 0.17). CONCLUSION: Significant progress has been made to reduce blindness and increase access to eye health across the Gambia, with further work is needed to decrease the risk of MSVI.

The Gambia National Eye Health Survey 2019: survey protocol.

Two national surveys of vision impairment and blindness were undertaken in The Gambia in 1986 and 1996. These provided data for the inception of The Gambia's National Eye Health Programme (NEHP) within the Ministry of Health and Social Welfare. There have been important developments in the eye health services provided by the NEHP in the last 20 years. At the same time, the population has also undergone major demographic changes that may have led to substantial changes in the burden of eye disease. We conducted a National Eye Health Survey of vision impairment, blindness and its comorbidities in adults in The Gambia in 2019. We examined a nationally representative population-based sample of adults 35 years and above to permit direct comparison with the data available from the previous surveys. Alongside a comprehensive vision and eye examination, the survey provides nationally representative data on important comorbidities in this population: diabetes, hypertension, obesity, hearing impairment, disability and mental health. Secondly, it estimates access to assistive technologies and eye health services. Thirdly, it is powered to allow a five-year follow up cohort study to measure the incidence and progression of eye disease.

Estimating Need for Glasses and Hearing Aids in The Gambia: Results from a National Survey and Comparison of Clinical Impairment and Self-Report Assessment Approaches.

Few estimates are available of the need for assistive devices (ADs) in African settings. This study aimed to estimate population-level need for glasses and hearing aids in The Gambia based on (1) clinical impairment assessment, and (2) self-reported AD awareness, and explore the relationship between the two methods. The Gambia 2019 National Eye Health Survey is a nationally representative population-based sample of 9188 adults aged 35+ years. Participants underwent standardised clinical vision assessments including the need for glasses (distance and near). Approximately 25% of the sample underwent clinical assessment of hearing and hearing aid need. Data were also collected on self-reported awareness, need and access barriers to vision and hearing ADs. Overall, 5.6% of the study population needed distance glasses (95% CI 5.0-6.3), 45.9% (95% CI 44.2-47.5) needed near glasses and 25.5% (95% CI 22.2-29.2) needed hearing aids. Coverage for each AD was very low (<4%). The agreement between self-report and clinical impairment assessment for AD need was poor. In conclusion, there is high prevalence and very low coverage for distance glasses, near glasses and hearing aids in The Gambia. Self-report measures alone will not provide an accurate estimate of AD need.

EPHA2 Segregates with Microphthalmia and Congenital Cataracts in Two Unrelated Families.

EPHA2 is a transmembrane tyrosine kinase receptor that, when disrupted, causes congenital and age-related cataracts. Cat-Map reports 22 pathogenic EPHA2 variants associated with congenital cataracts, variable microcornea, and lenticonus, but no previous association with microphthalmia (small, underdeveloped eye, ≥2 standard deviations below normal axial length). Microphthalmia arises from ocular maldevelopment with >90 monogenic causes, and can include a complex ocular phenotype. In this paper, we report two pathogenic EPHA2 variants in unrelated families presenting with bilateral microphthalmia and congenital cataracts. Whole genome sequencing through the 100,000 Genomes Project and cataract-related targeted gene panel testing identified autosomal dominant heterozygous mutations segregating with the disease: (i) missense c.1751C>T, p.(Pro584Leu) and (ii) splice site c.2826-9G>A. To functionally validate pathogenicity, morpholino knockdown of epha2a/epha2b in zebrafish resulted in significantly reduced eye size ± cataract formation. Misexpression of N-cadherin and retained fibre cell nuclei were observed in the developing lens of the epha2b knockdown morphant fish by 3 days post-fertilisation, which indicated a putative mechanism for microphthalmia pathogenesis through disruption of cadherin-mediated adherens junctions, preventing lens maturation and the critical signals stimulating eye growth. This study demonstrates a novel association of EPHA2 with microphthalmia, suggesting further analysis of pathogenic variants in unsolved microphthalmia cohorts may increase molecular diagnostic rates.

Acceptability of Telegenetics for Families with Genetic Eye Diseases.

Healthcare providers around the world have implemented remote routine consultations to minimise disruption during the COVID-19 pandemic. Virtual clinics are particularly suitable for patients with genetic eye diseases as they rely on detailed histories with genetic counselling. During April-June 2019, the opinion of carers of children with inherited eye disorders attending the ocular genetics service at Moorfields Eye Hospital NHS Foundation Trust (MEH) were canvassed. Sixty-five percent of families (n = 35/54) preferred to have investigations carried out locally rather than travel to MEH, with 64% opting for a virtual consultation to interpret the results. The most popular mode of remote contact was via telephone (14/31), with video call being least preferred (8/31). Hence, 54 families who had received a telephone consultation mid-pandemic (November 2020-January 2021) were contacted to re-evaluate the acceptability of telegenetics using the Clinical Genetics Satisfaction Indicator and Telemedicine Satisfaction Questionnaire. Overall, 50 carers participated (response rate 93%); 58% of participants found teleconsultations acceptable and 54% agreed they increased their access to care, but 67.5% preferred to be seen in person. Patient satisfaction was high with 90% strongly agreeing/agreeing they shared and received all necessary information. Ocular genetics is well-suited for remote service delivery, ideally alternated with face-to-face consultations.

Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.

Childhood cataract affects 2.5-3.5 per 10,000 children in the UK, with a genetic mutation identified in 50-90% of bilateral cases. However, cataracts can also manifest in adolescence and early adulthood in isolation, as part of a complex ocular phenotype or with systemic features making accurate diagnosis more challenging. We investigate our real-world experience through a retrospective review of consecutive bilateral cataract patients (0-25 years) presenting to the ocular genetics service at Moorfields Eye Hospital between 2017 and 2020. Fifty-four patients from 44 unrelated families were identified, with a median age of 13.5 years (range 1 to 68 years) and a median age at diagnosis of 43.9 months IQR (1.7-140.3 months); 40.7% were female and 46.3% were Caucasian. Overall, 37 patients from 27 families (61.4%) were genetically solved (50%) or likely solved (additional 11.4%), with 26 disease-causing variants (8 were novel) in 21 genes; the most common were crystallin genes, in 8 (29.6%) families, with half occurring in the CRYBB2 gene. There was no significant difference in the molecular diagnostic rates between sporadic and familial inheritance (P = 0.287). Associated clinical diagnoses were retinal dystrophies in five (18.5%) and aniridia in three (11.1%) families. Bilateral cataracts were the presenting feature in 27.3% (6/22) of either complex or syndromic cases, and isolated cataract patients were 11.5 years younger (rank-sum Z = 3.668, P = 0.0002). Prompt genetic investigation with comprehensive panel testing can aid with diagnosis and optimise management of cataract patients.

Factors influencing the decision-making of carers of children with bilateral cataract in Nepal.

OBJECTIVES: Two hundred thousand children worldwide are blind from cataract. Late presentation for surgery resulting in poor visual outcomes is a problem globally. We aimed to explore the reasons why children are not brought earlier for surgery in Nepal. METHODS AND ANALYSIS: Mixed-method study of carers of children with bilateral cataract attending a large non-government eye hospital were administered a proforma. A random sample took part in semistructured interviews and focus group discussions. RESULTS: Carers of 102 children completed proformas; 10 interviews and 2 focus group discussions were held. 80.4% were Indian, 35.3% of children were female, and their mean age was 58 months (range 4 months to 10 years). Median delay in time between the carer first noticing a problem to presentation was 182 days IQR (60.8-364.8). This was significantly longer for girls (median 304 IQR (91.2-1094.4)) than boys (median 121.6 IQR (30.4-364.8); p=0.02). Cost to access care was a problem for 42 (41.2%) carers. 13 (12.8%) participants were not aware of treatment and 12 (11.8%) were aware but did not seek treatment. The community influenced carer's health-seeking behaviour. Cataract was sometimes described as 'phula', meaning something white seen on the eye. CONCLUSION: Fewer girls presented for surgery, and they also had a significantly longer delay to presentation than boys. Carers are influenced by factors at family, community and socio-organisational levels. Approaches to increase timely access, particularly by girls, are required, such as health education using the term phula, which is widely understood.

Congenital cataract: a guide to genetic and clinical management.

Worldwide 20,000-40,000 children with congenital or childhood cataract are born every year with varying degrees and patterns of lens opacification with a broad aetiology. In most cases of bilateral cataract, a causative genetic mutation can be identified, with autosomal dominant inheritance being most common in 44% of cases. Variants in genes involve lens-specific proteins or those that regulate eye development, thus giving rise to other associated ocular abnormalities. Approximately 15% of cases have systemic features, hence paediatric input is essential to minimise comorbidities and support overall development of children at high risk of visual impairment. In some metabolic conditions, congenital cataract may be the presenting sign, and therefore prompt diagnosis is important where there is an available treatment. Multidisciplinary management of children is essential, including ophthalmic surgeons, orthoptists, paediatricians, geneticists and genetic counsellors, and should extend beyond the medical team to include school and local paediatric visual support services. Early surgery and close follow up in ophthalmology is important to optimise visual potential and prevent amblyopia. Routine genetic testing is essential for the complete clinical management of patients, with next-generation sequencing of 115 genes shown to expedite molecular diagnosis, streamline care pathways and inform genetic counselling and reproductive options for the future. Lay abstract: Childhood cataract: how to manage patients Cataract is a clouding of the lens in the eye. Cataract occurring in children has many different causes, which may include infections passed from mother to child during pregnancy, trauma, medications and exposure to radiation. In most cases of cataract occurring in both eyes, a genetic cause can be found which may be inherited from parents or occur sporadically in the developing baby itself while in the womb. Cataracts may occur on their own, with other eye conditions or be present with other disorders in the body as part of a syndrome. Genetic testing is important for all children with cataract as it can provide valuable information about cause, inheritance and risk to further children and signpost any other features of the disease in the rest of the body, permitting the assembly of the correct multidisciplinary care team. Genetic testing currently involves screening for mutations in 115 genes already known to cause cataract and has been shown to expedite diagnosis and help better manage children. Genetic counselling services can support families in understanding their diagnosis and inform future family planning. In order to optimise vision, early surgery for cataract in children is important. This is because the brain is still developing and an unobstructed pathway for light to reach the back of the eye is required for normal visual development. Any obstruction (such as cataract) if left untreated may lead to permanent sight impairment or blindness, even if it is removed later. A multidisciplinary team involved in the care of a child with cataract should include ophthalmic surgeons, orthoptists, paediatricians, geneticists and genetic counsellors, and should extend beyond the medical team to include school and local child visual support services. They will help to diagnose and manage systemic conditions, optimise vision potential and help patients and their families access best supportive care.