BackgroundThe relationship between the ethnic background or socioeconomic status (SES) and late retinoblastoma (Rb) presentation in the UK is unclear. We aimed to investigate if such correlations exist in a cohort of non-familial Rb cases.MethodsA cross-sectional study based at the two centres providing Rb care in the UK. Included were non-familial Rb cases that presented from January 2006 to December 2011. Epidemiological and clinical data were retrieved from medical charts, as well as patients’ postcodes used to obtain the Index of Multiple Deprivation (IMD) score. A postal questionnaire was sent to participants’ parents to collect further, person-level, information on languages spoken and household socioeconomic position. Statistical correlations to advanced Rb at presentation as well as to treatment by enucleation and need for adjuvant chemotherapy were investigated.ResultsThe cohort included 189 cases, 98 (51.8%) of which were males. The median age at diagnosis was 16 months (IQR 8–34 months). Of the study patients, 153 (81%) presented with advanced Rb; 78 (41%) with group D and 75 (40%) with group E Rb. A total of 134 (72%) patients were treated with enucleation. South Asian ethnicity and being in the most deprived IMD quintile were associated with a higher likelihood of presentation with advanced disease, but these estimates did not reach statistical significance. Older age at presentation was associated with enucleation and bilateral disease with adjuvant chemotherapy.ConclusionsIn this national UK study of patients with non-familial Rb, there was no evidence of an association of ethnicity or SES and the risk of presenting with advanced disease. These findings may reflect equality in access of healthcare in the UK.

Background: Fabry disease is a rare inborn error of metabolism with profound clinical consequences if untreated. It is caused by the deficiency of α galactosidase A enzyme and is the only lysosomal storage disorder with an X linked inheritance. Confirmation requires genetic analysis of Galactosidase Alpha (GLA) Gene, which is often a challenge in resource-poor settings. Despite these technological limitations, specific clinical features in this condition can establish the diagnosis. Case presentation: We report on a 13-year old male who presented with an afebrile convulsion with a background history of chronic burning sensation of hands and feet and anhidrosis for 2 years duration with a similar history of episodic acroparesthesia in the other male sibling. The early clinical diagnosis was based on the history and detection of Cornea Verticillata on eye examination. Biochemical confirmation was established with detection of low α galactosidase A enzyme levels and a missense mutation of the Galactosidase Alpha (GLA) Gene (c.136C > T) established the genetic confirmation. Conclusion: This is the first case of Fabry disease reported in Sri Lanka. Awareness of specific clinical features aided clinical diagnosis long before access to genetic confirmation was available.

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Introduction: COVID-19 related travel restrictions and lockdown status of the country has affected the routine work of most of the health sector. Screening and treatment of retinopathy of prematurity is considered as a procedure which must be continued despite the adverse situation. Methods: ROP register of the Department of PaediatricOphthalmology was analyzed to see how the pandemic situation affected the ROP screening and treatment.Results: Out of the total number of 363 babies who were screened for ROP 48 developed severe forms of ROP needing treatment. 45 babies could not attend the clinic visits on the given date. Discussion and conclusion:Severe forms of ROP can be treated with one dose of intravitreal injection of bevacizumab. 532nm Green Laser is reserved for zone 3 stage 3 ROP and for babies who develop tractional elements. Robust and prolonged follow up mechanism is necessary to maintain the integrity of the ROP management.

Introduction and objectives: Treatment of Retinopathy of Prematurity (ROP) is revolutionized by the use of Anti-Vascular Endothelial Growth Factor agents over the last decade. This study describes the results of the treatment in the newest paediatric ophthalmology unit in Sri Lanka- Teaching hospital, Jaffna. Methods: Retrospective analysis of the ROP screening and treatment data at the paediatric ophthalmology unit at teaching hospital was carried out. All the screening and treatment sessions were carried out under topical anaesthesia. Out of the 118 babies who underwent screening examinations, 12 babies had severe ROP requiring treatment with intravitreal injection of Bevacizumab. In conclusion intravitreal injection of Bevacizumab is very successful in managing severe Zone 1 and Zone 2 ROP although prolong follow up is mandatory to detect recurrences of ROP.