Dataset Information

Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.

ABSTRACT: Childhood cataract affects 2.5-3.5 per 10,000 children in the UK, with a genetic mutation identified in 50-90% of bilateral cases. However, cataracts can also manifest in adolescence and early adulthood in isolation, as part of a complex ocular phenotype or with systemic features making accurate diagnosis more challenging. We investigate our real-world experience through a retrospective review of consecutive bilateral cataract patients (0-25 years) presenting to the ocular genetics service at Moorfields Eye Hospital between 2017 and 2020. Fifty-four patients from 44 unrelated families were identified, with a median age of 13.5 years (range 1 to 68 years) and a median age at diagnosis of 43.9 months IQR (1.7-140.3 months); 40.7% were female and 46.3% were Caucasian. Overall, 37 patients from 27 families (61.4%) were genetically solved (50%) or likely solved (additional 11.4%), with 26 disease-causing variants (8 were novel) in 21 genes; the most common were crystallin genes, in 8 (29.6%) families, with half occurring in the CRYBB2 gene. There was no significant difference in the molecular diagnostic rates between sporadic and familial inheritance (P = 0.287). Associated clinical diagnoses were retinal dystrophies in five (18.5%) and aniridia in three (11.1%) families. Bilateral cataracts were the presenting feature in 27.3% (6/22) of either complex or syndromic cases, and isolated cataract patients were 11.5 years younger (rank-sum Z = 3.668, P = 0.0002). Prompt genetic investigation with comprehensive panel testing can aid with diagnosis and optimise management of cataract patients.

SUBMITTER: Bell S

PROVIDER: S-EPMC7909819 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature

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Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.

Bell Suzannah S Malka Samantha S Lloyd Ian Christopher IC Moosajee Mariya M

Genes 20210121 2

Childhood cataract affects 2.5-3.5 per 10,000 children in the UK, with a genetic mutation identified in 50-90% of bilateral cases. However, cataracts can also manifest in adolescence and early adulthood in isolation, as part of a complex ocular phenotype or with systemic features making accurate diagnosis more challenging. We investigate our real-world experience through a retrospective review of consecutive bilateral cataract patients (0-25 years) presenting to the ocular genetics service at Mo ...[more]

PMID: 33494148

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Project description:BackgroundSocio-economic status continues to mediate physical activity engagement, despite a range of interventions aimed at reducing inequalities and widening sport and physical activity participation. As a result there has been increasing interest amongst policy makers, national governing bodies (NGB), county sports partnerships (CPS) and the sport and physical activity sector more broadly, in understanding how best to reduce inequalities and widen participation. The "price point" of offers and whether a "free offer" enables or devalues participation, has been a key area of interest. This scoping review aimed to explore this topic further by investigating whether "a free "offer" devalues or widens sport and physical activity participation amongst children and young adults aged 0-25?".MethodsThis scoping review searched three electronic bibliographic databases (MEDLINE, PsycINFO, SPORTDiscus) using a structured search strategy to identify articles published between 2017 and January 2022. Studies were included using the PICO criteria of; Population: children and young adults aged 0-25; Intervention: free "offer" relating to physical activity; Context: areas of deprivation in the UK; Outcome: engagement, involvement, participation in sport and physical activity.Results and discussionFive studies were eligible after screening 1301 titles and reviewing 14 full-text studies. Features reported included intervention design, outcomes, potential challenges and wider implications / future recommendations. Specifically, a narrative synthesis of the key themes of participation deprivation and cost effectiveness were outlined in more detail. A subsidized cost or free offer can improve participation generally and in attracting those from lower socio-economic backgrounds. However, the impact of such initiatives decrease with increasing deprivation highlighting that groups with the highest levels of deprivation have wider complexities affecting their participation. Competing priorities and potentially unrealistic expectations at stakeholders level was also identified.ConclusionDespite the paucity of current research exploring the impact of a "free offer" in children and young adults, recommendations for future research, practice and policy included the need for longitudinal, more holistic and participant centric approaches. Further research is required to explore the impact of a "free offer" from an individual, societal and policy-level perspective, in widening and increasing participation in sport and physical activity.

Dataset Information

Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.

Publications

Clinical Spectrum and Genetic Diagnosis of 54 Consecutive Patients Aged 0-25 with Bilateral Cataracts.

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