Burden and clinical profile of genetic eye diseases in children in Nigeria: a descriptive cross-sectional study.

Introduction: ophthalmic genetics is rapidly evolving globally but is still nascent in much of sub-Saharan Africa, with gaps in knowledge about the burden in the region. This study evaluated the burden and manifestations of genetic eye diseases in children in Ibadan, Nigeria. Methods: this was a hospital-based cross-sectional study in which new and follow-up paediatric eye clinic patients were recruited consecutively at the University College Hospital, Ibadan. Children with genetic eye diseases had comprehensive ocular and systemic examinations, and their pedigrees were charted to determine the probable modes of inheritance. The main outcome variables were the proportion of study participants with genetic eye diseases, the probable modes of inheritance, and the clinical diagnoses. Summary statistics were performed using means and standard deviations for numerical variables and proportions for categorical variables. Results: fifty-two (12%) of 444 children had genetic eye diseases, and their mean (SD) age was 88.8 ± 50.4 months. Thirteen different phenotypic diagnoses were made following the evaluation of the 52 children, including primary congenital glaucoma (13, 25%) and familial non-syndromic cataracts (8, 15%). The probable modes of inheritance were derived from the pedigree charts, and 30 (58%) conditions were presumed to be sporadic. Conclusion: this study demonstrated a significant burden and a wide range of paediatric genetic eye diseases in this tertiary referral centre in Nigeria. This information provides invaluable evidence for planning ophthalmic genetic services.

Nigerian parents' perspectives on genetic testing in their children with genetic eye diseases.

The decision for genetic testing in children is usually taken by their parents or caregivers, and may be influenced by sociocultural and ethical concerns. This study evaluateds the perspectives of Nigerian parents towards genetic testing of their children with genetic eye diseases parental willingness for genetic testing in their children, and its determinants, in a hospital setting in Nigeria. This cross-sectional, hospital-based study was conducted at the Eye clinic, University College Hospital, Ibadan. The participants were 42 parents of children with genetic eye diseases purposively recruited from April to July 2021. The main variables of interest were overall willingness to test, and willingness to test given ten different scenarios. Summary statistics were performed, and determinants of willingness to test (parental sociodemographic and children's clinical characteristics) were assessed using Fischer's exact test. All the participants expressed willingness to test when presented with six of the ten scenarios.However, slightly fewer (83-95%) proportions were willing to test for the other four scenarios (out-of-pocket payment, if test will reveal a systemic association, if test may confirm a diagnosis with no current treatment, and prenatal testing). Willingness to test was not significantly associated with the determinants tested. Thirty-nine (93%) would join a support group, 38 (91%) would inform a family member at risk, and 28 (67%) would be unwilling to have more children if there wais a risk to future offspring. This study demonstrated a high degree of parental willingness for genetic testing of their children. This is important evidence that can guide policy and planning of ophthalmic genetics services.

Indications for surgery amongst new patients presenting to the paediatric ophthalmology unit of the University College Hospital, Ibadan.

OBJECTIVE: The objective of the study was to determine the proportion of children requiring ocular surgery amongst new patients presenting to the Paediatric Ophthalmology Unit of the University College Hospital, Ibadan, over a 2-year period, to enhance planning and improve the efficiency of service delivery. METHODS: The study was a retrospective review of records of all new patients aged 0-16 years who presented to the Paediatric Ophthalmology Unit of the University College Hospital, Ibadan, over a 2-year period (May 2015-April 2017). Information on age and gender, clinical diagnosis and indications for surgery and type of surgery scheduled were retrieved from the diagnosis register of the unit, and a descriptive analysis was performed. RESULTS: Of the 1240 children who presented to the clinic within the study period, 142 (11.5%) needed surgical interventions. Their ages ranged from 1 month to 16 years, with a mean age of 6.4 ± 4.7 years. Seventy-nine (55.6%) of these were males. The most common indications for surgery were cataract and cataract-related indications (n = 122, 85.9%), followed by glaucoma and strabismus. Other less common indications for surgery were nasolacrimal duct obstruction and epibulbar dermoid. CONCLUSION: Paediatric cataract, the leading cause of childhood blindness in this environment, presents the greatest surgical burden in our unit. It should, therefore, be a major focus of personnel training and equipment procurement for paediatric ophthalmology services in our environment.

A systemic approach to the prevention of COVID-19 transmission in clinical settings in Nigeria

Coronavirus disease (COVID-19) is a respiratory illness currently ravaging the world in pandemic proportions. Its route of spread and a high degree of infectivity make it easily transmissible within health care settings. Health workers, who are at particular risk of workplace-related infection, should be familiar with and abide by international best practices for infection prevention and control at work to protect themselves and their patients. This is particularly important so that they can continue to provide muchneeded care. We present a review of international best practices and guidelines to prevent COVID-19 infection in the clinical space in the Nigerian context. Our focus is on strategies for administrative control, patient management, and environmental cleaning and waste management