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.

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.

Survey of Blindness in Saki East, Oyo State, Nigeria.

Background: This survey was undertaken in a rural local government area (LGA) where eye care services recently commenced, with no known previous data on blindness or visual impairment. Aim and Objectives: The aim was to generate evidence for further planning and monitoring of the on-going eye care program. The objectives included determination of the prevalence of blindness and visual impairment, causes of blindness and visual impairment, and assessment of cataract services and barriers to cataract surgery uptake. Materials and Methods: This was a cross-sectional observational study. A population-based rapid assessment of avoidable blindness (RAAB) was undertaken among eligible individuals, aged 50 years and above, who were residents of Saki East LGA. A three-stage cluster sampling technique with probability proportional to size was employed to recruit 1100 respondents. Field data were analysed using the RAAB 5 computer software package. Results: The age- and sex-adjusted prevalence of blindness was 1.7% (95% confidence interval: 0.1-3.3). Cataract was the commonest cause of blindness (37.8%) and severe visual impairment (56.3%), whereas refractive error was the leading cause of moderate visual impairment (68.3%). The prevalence of blindness significantly increased with age (χ2= 38.01, P = 0.000). Avoidable conditions were responsible for 94.6% of the blindness. Conclusion: The burden of blindness and visual impairment in the survey area is significant, with more than 90% due to avoidable causes. Cataract, glaucoma, and uncorrected refractive error were important causes needing urgent attention.

Visual Outcome of Anti-vascular Endothelial Growth Factor Injections at the University College Hospital, Ibadan.

Aim: The aim of the study was to evaluate the 1-year outcome of intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy in an eye unit in sub-Saharan Africa. Methodology: This retrospective study included 182 eyes of 172 patients managed in the vitreoretinal unit between 2016 and 2019 who were treated with intravitreal anti-VEGF bevacizumab (1.25 mg/0.05 ml) with at least 1 year of follow-up. The outcome measures were change in best-corrected visual acuity (BCVA) over 1 year of follow-up, the number of injections taken, and complications. Results: The mean age was 61.1 ± 16.3 years (male-to-female ratio of 1:1.1) and about 62.1% above >60 years. A total of 330 injections were given during the period audited. The mean number of injections was 1.8 ± 0.93. Ninety-four (51.7%) eyes had only one injection, while 33 (18.1%), 50 (27.5%), and 5 (2.7%) had 2, 3, and 4 injections, respectively. About 78.5% had moderate-to-severe visual impairment at baseline and 44.5%, 16.4%, 12.6%, and 7.1% at 1, 3, 6, and 12 months post injections, respectively. The mean BCVA improved for all eyes from 1.67 ± 0.91 logarithm of minimum angle of resolution (logMAR) at baseline to 1.50 ± 1.27 logMAR at 1 year. The logMAR letters gained was 23 at 1 month and 8.25 at 1 year; the eyes that had three injections gained 10 letters, while those that had one injection gained three letters. Eyes with age-related macular degeneration and idiopathic polypoidal choroidopathy gained 7.5 and 9 letters, respectively, at 1 year after at least three injections. There was a statistically significant association between an increasing number of injections and improved visual outcome (P = 0.043). One patient each developed endophthalmitis (0.6%) and inferior retinal detachment (0.6%) post injection. Conclusion: Visual acuity gain was recorded in patients who had intravitreal anti-VEGF injections in 1 year. It is recommended that patients should have more than one injection.

RésuméObjectif: Le but de l'étude était d'évaluer le résultat à 1 an d'un traitement intravitréen anti-facteur de croissance endothélial vasculaire (anti VEGF) dans une unité ophtalmologique en Afrique subsaharienne. Méthodologie: Cette étude rétrospective a inclus 182 yeux de 172 patients pris en charge dans l'unité vitréorétinienne entre 2016 et 2019 qui ont été traités par bevacizumab anti-VEGF intravitréen (1,25 mg/0,05 ml) avec au moins 1 an de suivi. Les mesures des résultats étaient le changement de la meilleure acuité visuelle corrigée (MAVC) sur 1 an de suivi, le nombre d'injections effectuées et les complications. Résultats: L'âge moyen était de 61,1 ± 16,3 ans (ratio homme/femme de 1:1,1) et d'environ 62,1 % au-dessus de > 60 ans. Au total, 330 injections ont été effectuées au cours de la période auditée. Le nombre moyen d'injections était de 1,8 ± 0,93. Quatre-vingt quatorze yeux (51,7 %) n'ont eu qu'une seule injection, tandis que 33 (18,1 %), 50 (27,5 %) et 5 (2,7 %) ont eu 2, 3 et 4 injections, respectivement. Environ 78,5% avaient une déficience visuelle modérée à sévère au départ et 44,5%, 16,4%, 12,6% et 7,1% à 1, 3, 6 et 12 mois après les injections, respectivement. La MAVC moyenne s'est améliorée pour tous les yeux, passant de 1,67 ± 0,91 logarithme de l'angle minimal de résolution (logMAR) au départ à 1,50 ± 1,27 logMAR à 1 an. Les lettres logMAR acquises étaient de 23 à 1 mois et de 8,25 à 1 an ; les yeux qui ont eu trois injections ont gagné 10 lettres, tandis que ceux qui ont eu une injection ont gagné trois lettres. Les yeux atteints de dégénérescence maculaire liée à l'âge et de choroïdopathie polypoïdale idiopathique ont gagné 7,5 et 9 lettres, respectivement, à 1 an après au moins trois injections. Il y avait une association statistiquement significative entre un nombre croissant d'injections et une amélioration des résultats visuels (P = 0,043). Un patient a développé une endophtalmie (0,6 %) et un décollement de la rétine inférieure (0,6 %) après l'injection. Conclusion: Un gain d'acuité visuelle a été enregistré chez les patients ayant eu des injections intravitréennes d'anti VEGF en 1 an. Il est recommandé que les patients aient plus d'une injection. Mots-clés: Anti facteur de croissance endothélial vasculaire, bevacizumab (Avastin), injections intravitréennes, ranibizumab (Lucentis), rétine, résultat visuel Dernière modification.

Clinical presentation and visual status of retinitis pigmentosa patients: a multicenter study in southwestern Nigeria.

BACKGROUND: To review the visual status and clinical presentation of patients with retinitis pigmentosa (RP). METHODOLOGY: Multicenter, retrospective, and analytical review was conducted of the visual status and clinical characteristics of patients with RP at first presentation from January 2007 to December 2011. Main outcome measure was the World Health Organization's visual status classification in relation to sex and age at presentation. Data analysis by SPSS (version 15) and statistical significance was assumed at P<0.05. RESULTS: One hundred and ninety-two eyes of 96 patients with mean age of 39.08±18.5 years and mode of 25 years constituted the study population; 55 (57.3%) were males and 41 (42.7%) females. Loss of vision 67 (69.8%) and night blindness 56 (58.3%) were the leading symptoms. Twenty-one (21.9%) patients had a positive family history, with RP present in their siblings 15 (71.4%), grandparents 11 (52.3%), and parents 4 (19.4%). Forty (41.7%) were blind at presentation and 23 (24%) were visually impaired. Blindness in six (15%) patients was secondary to glaucoma. Retinal vascular narrowing and retinal pigmentary changes of varying severity were present in all patients. Thirty-five (36.5%) had maculopathy, 36 (37.5%) refractive error, 19 (20%) lenticular opacities, and eleven (11.5%) had glaucoma. RP was typical in 85 patients (88.5%). Older patients had higher rates of blindness at presentation (P=0.005); blindness and visual impairment rate at presentation were higher in males than females (P=0.029). CONCLUSION: Clinical presentation with advanced diseases, higher blindness rate in older patients, sex-related difference in blindness/visual impairment rates, as well as high glaucoma blindness in RP patients requires urgent attention in southwestern Nigeria.

Coronavirus Disease 2019 Virus among ophthalmologists in Nigeria: Knowledge, attitude, and perceptions

Background: Globally, there is still much to learn about the evolving coronavirus disease 2019 (COVID-19) virus, its transmission, prevention, and treatment. Therefore, this study investigates the knowledge, perception, and screening practices of COVID-19 infection in the ophthalmology practice in Nigeria. Materials and Methods: This survey was a descriptive, cross-sectional survey conducted among practising ophthalmologists and ophthalmologists in training in Nigeria in an online survey. Data compiled were then analyzed using the IBM SPSS software version 22.0 with two-tailed P < 0.05 considered to indicate statistical significance. Results: A total of 206 ophthalmologists/ophthalmologists in training were recruited for this study. Most of the respondents, 97 (47.1%), practiced in centres in South-West Nigeria and were board-certified ophthalmologists 96 (46.6%). In general, the majority of the respondents, 182 (88.3%), had good knowledge regarding the COVID-19 virus, its transmission, prevention as it regards the ophthalmic practice, 134 (74.8%) either agreed or strongly agreed that the ophthalmologist is at a higher risk of contracting the virus from infected patients even if the patient is asymptomatic. COVID-19 infection was perceived as very serious by the majority of the respondents, 135 (65.5%), although 128 (62.1%) felt that all routine cases should be seen only following a low-risk assessment. Conclusion: As the world races toward complete vaccination of the population against this fatal infection, continued training is required to ensure the best practices among ophthalmologists to bridge the present knowledge gaps, corrects myths, misconceptions, and ensure the safety of both the patient and the ophthalmologist.

Changing indications for intravitreal anti-vascular endothelial growth factor injections at the university college hospital, Ibadan, Sub-Saharan Africa

Background: To review the current indications for intravitreal anti-vascular endothelial growth factor (anti-VEGF) therapy, in order to make recommendations for planning of services.Methods: The medical records of 172 patients who had intravitreal anti-vascular endothelial growth factor (anti-VEGF) injections from January 2016 to December 2019 were retrieved. Socio-demographic and clinical data were extracted, analysed, and compared with data from the previously published audit report covering 2010 to 2012.Results: Three hundred and thirty injections were given to 182 eyes in this cohort of patients. The mean age was 61.1±16.3 years (range <1-90 years), with a male to female ratio of 1.1:1. Retinal vein occlusion, 64 (35%) remained the most common indication for anti-VEGF injections in the eyes treated. This was followed by choroidal neovascular membrane/wet age-related macular degeneration which accounted for 42 (23%) as reported previously. However, cases of proliferative diabetic retinopathy/ diabetic maculopathy needing anti-VEGF were noticed to have almost doubled from about 8 (10%) in the previous study to 15 (27%) in the present study. In addition, idiopathic polypoidal choroidal vasculopathy, 18 (10%) ranked above proliferative sickle cell retinopathy in the present study. Retinopathy of prematurity (ROP), neovascular glaucoma, retinal artery macro-aneurysm and myopic choroidal neovascular membrane were the new emerging indications.Conclusion: There is an expanding indication for anti-VEGF in the management of retinal vascular diseases in the health facility and adequate measures should be put in place for early diagnosis and management. Patients should be counselled on the availability of this treatment option.

Tuberculous uveitis.

Tuberculous uveitis is an underdiagnosed form of uveitis. Absence of pulmonary signs and symptoms does not rule out the disease. In an era of reduced immunity from human immunodeficiency virus and acquired immunodeficiency syndrome, the disease is becoming more prevalent. This review discusses the common manifestations of tuberculous uveitis, pointing out helpful diagnostic criteria in suspicious cases of uveitis. Physicians need to be aware that ocular manifestations of tuberculosis may be independent of systemic disease.

Is age-related macular degeneration a problem in Ibadan, Sub-Saharan Africa?

BACKGROUND: Age-related macular degeneration (AMD) is considered uncommon in black populations including those of Sub-Saharan Africa. The aim of this review was to determine the pattern of presentation of AMD in our hospital located in Ibadan, the largest city in Sub-Saharan Africa. METHODS: A retrospective review of all cases with AMD presenting to the Eye and Retinal Clinic of the University College Hospital, Ibadan, West Africa was undertaken between October 2007 and September 2010. RESULTS: In the 3 years reviewed, 768 retinal cases were seen in the hospital, 101 (14%) of which were diagnosed with AMD. The peak age was 60-79 years. The male to female ratio was approximately 2:3. More males presented with the advanced form of dry AMD than females (odds ratio = 2.33). However, more females had advanced wet AMD than males (odds ratio = 1.85). Wet AMD was seen in 40 cases (40%). CONCLUSION: The review determined that, as AMD is not uncommon and wet AMD is relatively more common in our hospital than has been reported previously, this is probably true of Ibadan in general.