"Where Does it Come from?" Experiences Among Survivors and Parents of Children with Retinoblastoma in Kenya.

Genetic testing and counseling have become integral to the timely control of heritable cancers, like the childhood eye cancer retinoblastoma. This study aimed to determine attitudes, knowledge and experiences related to retinoblastoma genetics, among survivors and parents of children with retinoblastoma in Kenya. This qualitative study used focus groups as the primary data collection method, coupled with a brief demographic questionnaire. Study settings were Kenyatta National Hospital and Presbyterian Church of East Africa Kikuyu Hospital. Thematic analysis was used to identify key themes. Thirty-one individuals participated in five focus groups. Two main concepts emerged: (1) the origins of retinoblastoma are unclear, and (2) retinoblastoma is associated with significant challenges. The lack of clarity surrounding the origins of retinoblastoma was linked to limited knowledge of retinoblastoma genetics, and limited genetic counseling delivery and uptake. The challenges associated with retinoblastoma were discussed in terms of the impact of the diagnosis on individuals and families, and unmet healthcare needs related to the diagnosis. Next steps will incorporate these findings to develop evidence-informed and accessible cancer genetic services in Kenya.

Achieving optimal cancer outcomes in East Africa through multidisciplinary partnership: a case study of the Kenyan National Retinoblastoma Strategy group.

BACKGROUND: Strategic, interdisciplinary partnerships are essential to addressing the complex drivers of health inequities that result in survival disparities worldwide. Take for example the aggressive early childhood eye cancer retinoblastoma, where survival reaches 97 % in resource-rich countries, but is as low 30 % in some resource-limited nations, where 92 % of the burden lies. This suggests a need for a multifaceted approach to achieve a tangible and sustainable increase in survival. METHODS: We assembled the history the Kenyan National Retinoblastoma Strategy (KNRbS), using information documented in NGO reports, grant applications, news articles, meeting agendas and summaries. We evaluated the KNRbS using the principles found in the guide for transboundary research partnerships developed by the Swiss Commission for Research Partnerships with Developing Countries. RESULTS: A nationally co-ordinated approach drawing input and expertise from multiple disciplines and sectors presented opportunities to optimise cure of children with retinoblastoma. Annual meetings were key to achieving the over 40 major outputs of the group's efforts, related to Awareness, Medical Care, Family Support and Resource Mobilization. Three features were found to be critical to the KNRbS success: multidisciplinarity, consistency and flexibility. CONCLUSION: The KNRbS has achieved a number of key outputs with limited financial investment. As a partnership, the KNRbS meets most of the criteria identified for success. Challenges remain in securing the long-term sustainability of its achievements. Elements of the Kenyan National Retinoblastoma Strategy may be useful to other developing countries struggling with limited survival of retinoblastoma and other cancers or rare diseases.

Retinoblastoma.

Retinoblastoma is an aggressive eye cancer of infancy and childhood. Survival and the chance of saving vision depend on severity of disease at presentation. Retinoblastoma was the first tumour to draw attention to the genetic aetiology of cancer. Despite good understanding of its aetiology, mortality from retinoblastoma is about 70% in countries of low and middle income, where most affected children live. Poor public and medical awareness, and an absence of rigorous clinical trials to assess innovative treatments impede progress. Worldwide, most of the estimated 9000 newly diagnosed patients every year will die. However, global digital communications present opportunities to optimise standards of care for children and families affected by this rare and often devastating cancer. Parents are now leading the effort for widespread awareness of the danger of leucocoria. Genome-level technologies could make genetic testing a reality for every family affected by retinoblastoma. Best-practice guidelines, online sharing of pathological images, point-of-care data entry, multidisciplinary research, and clinical trials can reduce mortality. Most importantly, active participation of survivors and families will ensure that the whole wellbeing of the child is prioritised in any treatment plan.

Prevalence of diabetic retinopathy in Jimma University Hospital, Southwest Ethiopia.

BACKGROUND: Diabetic retinopathy accounts for 5% of global blindness and the incidence of diabetic blindness is increasing. Although the epidemiology of diabetic retinopathy has been well described in Western populations, there remains a paucity of prevalence data in many developing countries such as Ethiopia. OBJECTIVE: To determine the prevalence, pattern and associated risk factors of diabetic retinopathy. METHODS: A cross sectional hospital based study was done on a total of sampled 324 diabetic patients attending medical diabetic clinic at Jimma University Hospital from February to March 2009. Eye examination for diabetic retinopathy was carried out using slit lamp biomicroscope and 90D Volk lens, and clinical grading of diabetic retinopathy was done using the Diabetic Retinopathy Study and Early Treatment Diabetic Retinopathy Study guidelines. RESULTS: The prevalence of diabetic retinopathy was 41.4%. Of these, 2.2% of the cases had severe non-Proliferative diabetic retinopathy while about 6% of patients had clinically significant macular edema. Vision threatening diabetic retinopathy was found in 7.3% of patients. Only 14.5% of the patients had prior eye check. The mean duration of diabetes mellitus, mean fasting blood sugar, mean systolic blood pressure, and mean diastolic blood pressure were 6.26 years, 158.8 mg/dl, 124.6 mmHg and 77.65 mmHg respectively. There was a statistically significant association between diabetic retinopathy and duration of diabetes, fasting blood sugar, and systemic blood pressure (p < 0.05). CONCLUSION: The prevalence of diabetic retinopathy was high, and only a small proportion of the study subjects had diabetic eye check up. There is a need for integration of the Medical Diabetic Clinic and Eye Clinic for preventive diabetic care, better referral system and coordinated diabetic screening program in the study setting.

Changes in Eye Health and Service Coverage in Nampula, Mozambique between 2011 and 2018.

PURPOSE: Globally, there are few examples of repeated eye health surveys to assess changes in prevalence and causes of visual impairment, and service coverage over time. Two separate, unlinked rapid assessments of avoidable blindness (RAAB) were conducted in Nampula province, Mozambique in 2011 and 2018. This paper reports the observed changes and examines how the trends differ for males and females. METHODS: Standard RAAB methodology was used in both studies. Two-stage cluster sampling was used to generate random samples of adults aged over 50 years. Participants underwent a simplified visual acuity (VA) exam, a lens exam and posterior segment exam using a direct ophthalmoscope for all subjects with presenting VA<6/18. Data were analysed using Stata and logistic regression models were developed to assess changes. RESULTS: The 2011 study enrolled 3,050 people and examined 96.9% (2,954 people). The 2018 survey enrolled 4,191 people and examined 95.8% (4,015 people). Age- and sex-adjusted estimates of blindness decreased from 6.2% in 2011 to 4.5% in 2018 (z = -2.21, p = .028). Cataract surgical coverage was higher among males in both surveys (13.4% among males vs 7.7% among females in 2011, and 40.0% among males vs 19.4% among females in 2018) and the gender disparity grew between surveys. CONCLUSION: Significant changes were observed in the eye health and service coverage between 2011 and 2018. Further improvements to services are required to improve access for women and people with moderate visual impairment.

Defining High-risk Retinoblastoma: A Multicenter Global Survey.

IMPORTANCE: High-risk histopathologic features of retinoblastoma are useful to assess the risk of systemic metastasis. In this era of globe salvage treatments for retinoblastoma, the definition of high-risk retinoblastoma is evolving. OBJECTIVE: To evaluate variations in the definition of high-risk histopathologic features for metastasis of retinoblastoma in different ocular oncology practices around the world. DESIGN, SETTING, AND PARTICIPANTS: An electronic web-based, nonvalidated 10-question survey was sent in December 2020 to 52 oncologists and pathologists treating retinoblastoma at referral retinoblastoma centers. INTERVENTION: Anonymized survey about the definition of high-risk histopathologic features for metastasis of retinoblastoma. MAIN OUTCOMES AND MEASURES: High-risk histopathologic features that determine further treatment with adjuvant systemic chemotherapy to prevent metastasis. RESULTS: Among the 52 survey recipients, the results are based on the responses from 27 individuals (52%) from 24 different retinoblastoma practices across 16 countries in 6 continents. The following were considered to be high-risk features: postlaminar optic nerve infiltration (27 [100%]), involvement of optic nerve transection (27 [100%]), extrascleral tissue infiltration (27 [100%]), massive (≥3 mm) choroidal invasion (25 [93%]), microscopic scleral infiltration (23 [85%]), ciliary body infiltration (20 [74%]), trabecular meshwork invasion (18 [67%]), iris infiltration (17 [63%]), anterior chamber seeds (14 [52%]), laminar optic nerve infiltration (13 [48%]), combination of prelaminar and laminar optic nerve infiltration and minor choroidal invasion (11 [41%]), minor (<3 mm) choroidal invasion (5 [19%]), and prelaminar optic nerve infiltration (2 [7%]). The other histopathologic features considered high risk included Schlemm canal invasion (4 [15%]) and severe anaplasia (1 [4%]). Four respondents (15%) said that the presence of more than 1 high-risk feature, especially a combination of massive peripapillary choroidal invasion and postlaminar optic nerve infiltration, should be considered very high risk for metastasis. CONCLUSIONS AND RELEVANCE: Responses to this nonvalidated survey conducted in 2020-2021 showed little uniformity in the definition of high-risk retinoblastoma. Postlaminar optic nerve infiltration, involvement of optic nerve transection, and extrascleral tumor extension were the only features uniformly considered as high risk for metastasis across all oncology practices. These findings suggest that the relevance about their value in the current scenario with advanced disease being treated conservatively needs further evaluation; there is also a need to arrive at consensus definitions and conduct prospective multicenter studies to understand their relevance.

Strategies to manage retinoblastoma in developing countries.

Survival of retinoblastoma is >90% in developed countries but there are significant differences with developing countries in stage at presentation, available treatment options, family compliance, and survival. In low-income countries (LICs), children present with advanced disease, and the reasons are socioeconomic and cultural. In middle-income countries (MICs), survival rates are better (>70%), but there is a high prevalence of microscopically disseminated extraocular disease. Programs for eye preservation have been developed, but toxicity-related mortality is higher. Although effective treatment of microscopically extraocular disease improved the outcome, worldwide survival will be increased only by earlier diagnosis and better treatment adherence.

Lessons for Patient Engagement in Research in Low- and Middle-Income Countries.

Patient engagement in research is marked by partnership between clinicians, scientists, and people with lived experience of a disease, who jointly develop and implement research and disseminate results. Patient engagement in research has been shown to lead to more impactful and relevant findings. There is a global need for quality research contextualized for low- and middle-income countries (LMICs). Patient involvement in research could address this need, yet it remains a practice more commonly employed in high income countries. In this paper, the authors explore LMIC-specific challenges and opportunities for patient engagement in research. Limitations to patient engagement in research include gaps in health infrastructure, socioeconomic status, cultural stigma, and uncertain roles. Potential solutions to address these challenges include strategic national and international research partnerships, initiatives to combat stigma, and sensitization and training of stakeholders in patient engagement in research. Reflecting on their patient engagement experience with eye cancer research in Canada and Kenya, and supported by evidence of patient engagement in other low-resource settings, the authors provide a roadmap for patient engagement in research in LMICs.

Design and Implementation of the Retinoblastoma Collaborative Laboratory.

PURPOSE: The purpose of this work was to describe the design and implementation of a digital pathology laboratory, the Retinoblastoma Collaborative Laboratory (RbCoLab) in Kenya. METHOD: The RbCoLab is a central lab in Nairobi that receives retinoblastoma specimens from all over Kenya. Specimens were processed using evidence-based standard operating procedures. Images were produced by a digital scanner, and pathology reports were disseminated online. RESULTS: The lab implemented standard operating procedures aimed at improving the accuracy, completeness, and timeliness of pathology reports, enhancing the care of Kenyan retinoblastoma patients. Integration of digital technology to support pathology services supported knowledge transfer and skills transfer. A bidirectional educational network of local pathologists and other clinicians in the circle of care of the patients emerged and served to emphasize the clinical importance of cancer pathology at multiple levels of care. A 'Robin Hood' business model of health care service delivery was developed to support sustainability and scale-up of cancer pathology services. DISCUSSION: The application of evidence-based protocols, comprehensive training, and collaboration were essential to bring improvements to the care of retinoblastoma patients in Kenya. When embraced as an integrated component of retinoblastoma care, digital pathology offers the opportunity for frequent connection and consultation for development of expertise over time.

Retinoblastoma referral pattern in Kenya.

PURPOSE: Kenya is a large country with a widely dispersed population. As retinoblastoma requires specialized treatment, we determined the referral pattern for patients with retinoblastoma in Kenya to facilitate the formulation of a national policy. MATERIALS AND METHODS: A retrospective study was performed for retinoblastoma patients who presented from January 1, 2006 to December 31, 2007. Data were collected on the referral process from presenting health facility to the hospital where patient was treated. Data were also collected on the time interval when the first symptoms were noticed to the time of presentation at a health facility (lag time). For cases that could be traced to a referral hospital, the time delay due to referral (referral lag time) was recorded. RESULTS: There were 206 patients diagnosed with retinoblastoma in 51 Kenyan and 2 foreign healthcare facilities, and they received final treatment at a Kenyan hospital. Mean lag time was 6.8 months (±6.45). Of all patients, 18% (38/206) were treated at the hospital where they first presented and 82% (168/206) were referred elsewhere. Of those referred, 35% (58/168) were lost to follow-up. The mean referral lag time was 1.7 months (±2.5). CONCLUSIONS: A significant proportion of cases presented late, and either delayed seeking further treatment or were lost after initial referral. We recommend the implementation of a national strategy that emphasizes early detection, documentation and follow up of retinoblastoma patients.

Ocular morbidity and health seeking behaviour in Kwara state, Nigeria: implications for delivery of eye care services.

BACKGROUND: There is currently limited information as to which conditions are most prevalent in communities in developing countries. This makes effective planning of eye services difficult. METHODS: 3,899 eligible individuals were recruited and examined in a cross-sectional survey in Asa Local Government Area, Nigeria. Those who self-reported an ocular morbidity were also asked about their health-seeking behaviour. Health records of local facilities were reviewed to collect information on those presenting with ocular morbidities. RESULTS: 25.2% (95% CI: 22.0-28.6) had an ocular morbidity in at least one eye. Leading causes were presbyopia and conditions affecting the lens and conjunctiva. The odds of having an ocular morbidity increased with age and lower educational attainment. 10.1% (7.7-13.0) self-reported ocular morbidity; 48.6% (40.4-56.8) of them reported seeking treatment. At the facility level, 344 patients presented with an ocular morbidity over one month, the most common conditions were red (26.3%) or itchy (20.8%) eyes. CONCLUSION: Ocular morbidities, including many non vision impairing conditions, were prevalent with a quarter of the population affected. The delivery of eye care services needs to be tailored in order to address this need and ensure delivery in a cost-effective and sustainable manner.

Developing clinical cancer genetics services in resource-limited countries: the case of retinoblastoma in Kenya.

BACKGROUND/AIMS: Clinical cancer genetics is an integral part of cancer control and management, yet its development as an essential medical service has been hindered in many low-and-middle-income countries. We report our experiences in developing a clinical cancer genetics service for retinoblastoma in Kenya. METHODS: A genetics task force was created from within the membership of the existing Kenyan National Retinoblastoma Strategy group. The task force engaged in multiple in-person and telephone discussions, delineating experiences, opinions and suggestions for an evidence-based, culturally sensitive retinoblastoma genetics service. Discussions were recorded and thematically categorized to develop a strategy for the design and implementation of a national retinoblastoma clinical genetics service. RESULTS: Discussion among the retinoblastoma genetics task force supported the development of a comprehensive genetics service that rests on 3 pillars: (1) patient and family counseling, (2) community involvement, and (3) medical education. CONCLUSIONS: A coordinated national retinoblastoma genetics task force led to the creation of a unique and relevant approach to delivering comprehensive and accurate genetic care to Kenyan retinoblastoma patients. The task force aims to stimulate innovative approaches in cancer genetics research, education and knowledge translation, taking advantage of unique opportunities offered in the African context.

Prevalence and causes of ocular morbidity in Mbeere District, Kenya. Results of a population-based survey.

PURPOSE: Ocular morbidity (OM) describes any eye disease regardless of resultant visual loss. Ocular morbidity may affect large numbers of people in low income countries and could lead to many episodes of care. However there is limited evidence about the prevalence of ocular morbidity or resulting health-seeking behavior. This study in Mbeere District, Kenya, set out to explore both these issues. METHODS: A cross-sectional household survey was conducted in 2011. Trained teams moved from house to house examining and questioning residents on ocular morbidity and health-seeking behavior. Data were collected on standardized proformas and entered into a database for analysis. RESULTS: 3,691 people were examined (response rate 91.7%). 15.52% (95% CI 13.86-16.92) had at least one ocular morbidity in at least one eye. The leading cause was presbyopia which affected 25.11% (95% CI 22.05-28.45) of participants over 35 and increased with age. Other leading causes of OM were conditions that affected the lens (32.58%) and the conjunctiva (31.31%). No association was found between educational attainment or employment and OM. 9.63% (7.87-11.74) self-reported an ocular morbidity in the previous six months and 45.94% (95% CI 37.1-55.04) stated that they had sought treatment for the condition. CONCLUSION: A large number of people were affected by an ocular morbidity in this survey. Most of these people could potentially be managed in their own communities through primary care services (e.g. those with presbyopia). Further work is required to understand the best way of providing an effective, equitable service for ocular morbidity.

Ocular manifestations of sickle cell disease at the Korle-bu Hospital, Accra, Ghana.

PURPOSE: To determine the magnitude and pattern of ocular manifestations in sickle cell disease at Korle-bu Hospital, Accra, Ghana. METHODS: Hospital-based cross-sectional study including all patients with sickle cell disease reporting for routine follow-up at the Sickle Cell Clinic at Korle-bu Hospital, Accra, Ghana. RESULTS: A total of 201 patients with sickle cell disease (67 male and 134 female) were enrolled, comprising 114 subjects with genotype HbSS, aged 6-58 years, mean 19.26 (SD 11.70), and 87 with genotype HbSC, aged 6-65 years, mean 31.4 (SD 16.76). Visual impairment was found in 5.6% of eyes examined. Causes were cataract, proliferative sickle retinopathy (PSR), optic atrophy, phthisis bulbi, and central retinal artery occlusion. Common anterior segment signs of sickle cell disease, which were more common in HbSC patients, were tortuous corkscrew conjunctival vessels, iris atrophy, and cataract. Eyes with iris atrophy or depigmentation were 1.8 times more at risk of PSR than eyes without. Overall, PSR was found in 12.9% of subjects examined (3.5% of HbSS, 25.3% of HbSC; 15.9% of males and 11.2% of females). The prevalence of proliferative sickle retinopathy increased with age and increased systemic severity of sickle cell disease; sex did not have an influence. CONCLUSIONS: There is a high prevalence of ocular morbidity in sickle cell disease patients at Korle-bu Hospital. Prevalence increased with age, systemic severity of sickle cell disease, and HbSC genotype.

Estimating incidence of vision-reducing cataract in Africa: a new model with implications for program targets.

OBJECTIVE: To estimate the incidence of vision-reducing cataract in sub-Saharan Africa and use these data to calculate cataract surgical rates (CSR) needed to eliminate blindness and visual impairment due to cataract. METHODS: Using data from recent population-based, standardized, rapid-assessment surveys, we calculated the age-specific prevalence of cataract (including operated and unoperated eyes) from surveys in 7 "districts" across Africa. This was done at 3 levels of visual acuity. Then we used the age-specific prevalence data to develop a model to estimate age-specific incidence at different visual acuities, taking into account differences in mortality rates between those with cataract compared with those without. The model included development of opacity in the first eye and second eye of people older than 50 years. The incidence data were used to calculate target cataract surgical rates. RESULTS: Incidence and CSR needs varied significantly in different sites and were lower in some than expected. Cataract surgical rates may depend on genetic, environmental, or cultural variations and will vary with population structure, which is not uniform across Africa. CONCLUSION: Africa should not be viewed as homogeneous in terms of cataract incidence or CSR needed. These CSR calculations should be useful for more appropriate planning of human resources and service delivery on the continent. The methodology can be applied to other population-based data as they become available to determine appropriate CSR targets.