ABSTRACT
Monogenic autoinflammatory syndromes (MAISs), are caused by pathogenic genetic variants in the innate immune system, leading to dysregulation and aberrant inflammasome activation spontaneously or with minimal triggering. The diagnosis and treatment of MAISs can be intricate, relying on an increased recognition of potential differential diagnoses. This review examines the clinical features of MAIS, with a special focus on uveitis. It also evaluates treatment options and assesses the effects of activating molecular and cytokine pathways.
Subject(s)
Hereditary Autoinflammatory Diseases , Uveitis , Child , Humans , Hereditary Autoinflammatory Diseases/diagnosis , Hereditary Autoinflammatory Diseases/genetics , Cytokines , Uveitis/diagnosis , Uveitis/genetics , Inflammasomes/genetics , Inflammation/diagnosisABSTRACT
PURPOSE: People of African Caribbean Descent (ACD) have a higher prevalence of glaucoma compared to people of European Descent (ED) and there is uncertainty if treatment outcomes are equivalent between the two groups. To assess surgical failure rates comparing ACD with ED focusing on trabeculectomy, aqueous shunt implantation, non-penetrating filtering surgery (NPFS), and minimally invasive glaucoma surgery (MIGS) by performing a systematic review in accordance with the PRISMA guidelines and to determine whether there is any evidence in to show a difference in success rates based on race. METHODS: A systematic review of articles using the CENTRAL, Ovid MEDLINE, PubMed, EMBASE, and ClinicalTrials.gov databases was completed. Additional studies were identified by contacting clinical experts and searching bibliographies. All retrospective and prospective studies on trabeculectomy, aqueous shunt implantation, NPFS, and MIGS that included at least 20% ACD were included. Two review authors independently screened search results for eligibility and inclusion and extracted the data using pre-determined fields. RESULTS: A total of 76 studies were identified for inclusion in the review. Glaucoma surgical outcomes in ACD appear to be poorer compared to ED overall, particularly for trabeculectomy. Data on NPFS are limited, but the studies completed thus far demonstrate surprisingly good results for ACD, particularly when compared to ED, who have significantly lower pre-operative IOPs. Evidence from studies investigating aqueous shunts does not suggest that ACD have poorer outcomes than ED. There is not enough data on MIGS to provide a significant conclusion. CONCLUSION: In a population where trabeculectomy may no longer be the gold standard, sufficiently powered studies assessing surgical outcomes in aqueous shunts, NPFS, and MIGS are needed to guide clinicians.
