Barriers and enablers to access childhood cataract services across India. A qualitative study using the Theoretical Domains Framework (TDF) of behaviour change

Early presentation for childhood cataract surgery is an important first step in preventing related visual impairment and blindness. In the absence of neonatal eye screening programmes in developing countries, the early identification of childhood cataract remains a major challenge. The primary aim of this study was to identify potential barriers to accessing childhood cataract services from the perspective of parents and carers, as a critical step towards increasing the timely uptake of cataract surgery. In-depth interviews were conducted using a pre-designed topic guide developed for this study to seek the views of parents and carers in nine geographic locations across eight states in India regarding their perceived barriers and enablers to accessing childhood cataract services. A total of 35 in-depth interviews were conducted including 30 at the hospital premises and 5 in the participants’ homes. All interviews were conducted in the local language and audio taped for further transcription and analysis. Data were organised using NVivo 11 and a thematic analysis was conducted utilising the Theoretical Domains Framework (TDF), an integrative framework of behavioural theories. The themes identified from interviews related to 11 out of 12 TDF domains. TDF domains associated with barriers included: ‘Environmental context and resources’, ‘Beliefs about consequences’ and ‘Social influences’. Reported enablers were identified in three theoretical domains: ‘Social influences’, ‘Beliefs about consequences’ and ‘Motivations and goals’. This comprehensive TDF approach enabled us to understand parents’ perceived barriers and enablers to accessing childhood cataract services, which could be targeted in future interventions to improve timely uptake.

Eye Disorders Spectrum: A Tertiary Hospital Pediatric Ophthalmology Clinic Based in Ethiopia

Background: Epidemiological studies to determine the pattern of eye disorders among children are important for proper health care planning and management. This study aimed to document the spectrum and frequency of eye diseases of children who attended the pediatric ophthalmology clinic of a tertiary teaching hospital Addis Ababa, Ethiopia. Methods: A cross sectional and convenient sample of 1237, male and female children (16 years and below) with ocular disorders presenting for the first time and those children with settled diagnosis coming for follow up visit between June 1, 2018 to May 31, 2019 were included in the study. Data on age at presentation, sex and diagnosis were collected and analyzed. Eye disorders were classified into various categories. Children were grouped into four age groups. Ratios, percentages and chi square associations were calculated. P< 0.05 was considered statistically significant.Results: Of the children 60% were male. The mean age (standard deviation) of the children was 4.26 (+4.1) years. Patients aged 0–5 years old were the largest group constituting 70.5%. Ocular motility imbalances were the most common ocular disorders seen (32.8 %), followed by childhood cataract (18.4%) and infection and inflammation of eye and adnexa (8.3%). Ocular motility imbalances were recorded more frequently and statistically significant (p < 0.001) among 1­ 5 years age group. Within the childhood cataract category, congenital cataract was more prominent (7.1%). Within the infection and inflammation category, cornea/ sclera infections were more common (3.7%). Conclusions: The study highlights common eye disorders seen in children in a specialized hospital ophthalmic clinic. Ocular motility imbalance, childhood cataract, and infection and inflammation of the eye and adnexa, were the most common occurring disorders. Early presentation was common, and males were more affected than females.

Application of Surgical Decision Model for Patients With Childhood Cataract: A Study Based on Real World Data

Reliable validated methods are necessary to verify the performance of diagnosis and therapy-assisted models in clinical practice. However, some validated results have research bias and may not reflect the results of real-world application. In addition, the conduct of clinical trials has executive risks for the indeterminate effectiveness of models and it is challenging to finish validated clinical trials of rare diseases. Real world data (RWD) can probably solve this problem. In our study, we collected RWD from 251 patients with a rare disease, childhood cataract (CC) and conducted a retrospective study to validate the CC surgical decision model. The consistency of the real surgical type and recommended surgical type was 94.16%. In the cataract extraction (CE) group, the model recommended the same surgical type for 84.48% of eyes, but the model advised conducting cataract extraction and primary intraocular lens implantation (CE + IOL) surgery in 15.52% of eyes, which was different from the real-world choices. In the CE + IOL group, the model recommended the same surgical type for 100% of eyes. The real-recommended matched rates were 94.22% in the eyes of bilateral patients and 90.38% in the eyes of unilateral patients. Our study is the first to apply RWD to complete a retrospective study evaluating a clinical model, and the results indicate the availability and feasibility of applying RWD in model validation and serve guidance for intelligent model evaluation for rare diseases.

Novel Mutation in CRYBB3 Causing Pediatric Cataract and Microphthalmia

Up to 25% of pediatric cataract cases are inherited, with half of the known mutant genes belonging to the crystallin family. Within these, crystallin beta B3 (CRYBB3) has the smallest number of reported variants. Clinical ophthalmological and genetic-dysmorphological evaluation were performed in three autosomal dominant family members with pediatric cataract and microphthalmia, as well as one unaffected family member. Peripheral blood was collected from all participating family members and next-generation sequencing was performed. Bioinformatics analysis revealed a novel missense variant c.467G>A/p.Gly156Glu in CRYBB3 in all family members with childhood cataract. This variant is classified as likely pathogenic by ACMG, and no previous descriptions of it were found in ClinVar, HGMD or Cat-Map. The only other mutation previously described in the fifth exon of CRYBB3 is a missense variant that causes a change in amino acid from the same 156th amino acid to arginine and has been associated with pediatric cataract and microphthalmia. To the best of our knowledge, this is the first time the c.467G>A/p.Gly156Glu variant is reported and the second time a mutation in CRYBB3 has been associated with microphthalmia.