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Purpose A key property to consider in all genetic tests is clinical utility, the ability of the test to influence patient management and health outcomes. Here we assess the current clinical utility of genetic testing in diverse pediatric inherited eye disorders (IEDs). Methods Two hundred one unrelated children (0–5 years old) with IEDs were ascertained through the database of the North West Genomic Laboratory Hub, Manchester, UK. The cohort was collected over a 7-year period (2011–2018) and included 74 children with bilateral cataracts, 8 with bilateral ectopia lentis, 28 with bilateral anterior segment dysgenesis, 32 with albinism, and 59 with inherited retinal disorders. All participants underwent panel-based genetic testing. Results The diagnostic yield of genetic testing for the cohort was 64% (ranging from 39% to 91% depending on the condition). The test result led to altered management (including preventing additional investigations or resulting in the introduction of personalized surveillance measures) in 33% of probands (75% for ectopia lentis, 50% for cataracts, 33% for inherited retinal disorders, 7% for anterior segment dysgenesis, 3% for albinism). Conclusion Genetic testing helped identify an etiological diagnosis in the majority of preschool children with IEDs. This prevented additional unnecessary testing and provided the opportunity for anticipatory guidance in significant subsets of patients.

Background: Naturopathy is a distinct system of traditional and complementary medicine recognized by the World Health Organization and defined by its philosophic approach to patient care, rather than the treatments used by practitioners. Worldwide, over 98 countries have practicing naturopaths, representing 36% of all countries and every world region. The contributions of naturopaths to healthcare delivery services internationally has not been previously examined. Thus, the primary intention of this research was to conduct an international survey of naturopathic practice and patient characteristics in order to gain insight to the breadth of their practices and the type of clinical conditions routinely encountered. Methods: The cross-sectional study was conducted in naturopathic clinics in 14 countries within 4 world regions including the European () and African (South Africa). Naturopathic practitioners in each country were invited to prospectively complete an online survey for 20 consecutive cases. The survey was administered in four languages. Results: A total of 56 naturopaths from 14 countries participated in the study, providing a mean of 15.1 cases each (SD 7.6) and 851 cases in total. Most patients were female (72.6%) and all age categories were represented with a similar proportion for 36-45 years (20.2%), 46-55 years (19.5%), and 56-65 years (19.3%). A substantial majority (75%) of patients were considered by the participant to be presenting with chronic health conditions. The most prevalent category of health conditions were musculoskeletal (18.5%), gastrointestinal (12.2%), and mental illness (11.0%). The most common treatment categories prescribed or recommended to patients by the participants were dietary changes (60.5%), lifestyle and behaviour changes (56.9%), herbal medicines (54.2%) and nutritional supplements (52.1%). Many patients were known by participants to be receiving care from a general practitioner (43.2%) or a specialist medical practitioner (27.8%). Conclusions: Naturopathic practitioners provide health care for diverse health conditions in patients in different age groups. The global population would benefit from researchers and policy makers paying closer attention to the potential risks, benefits, challenges and opportunities of the provision of naturopathic care within the community.

Individuals who have ocular features of albinism and skin pigmentation in keeping with their familial background present a considerable diagnostic challenge. Timely diagnosis through genomic testing can help avert diagnostic odysseys and facilitates accurate genetic counselling and tailored specialist management. Here, we report the clinical and gene panel testing findings in 12 children with presumed ocular albinism. A definitive molecular diagnosis was made in 8/12 probands (67%) and a possible molecular diagnosis was identified in a further 3/12 probands (25%). TYR was the most commonly mutated gene in this cohort (75% of patients, 9/12). A disease-causing TYR haplotype comprised of two common, functional polymorphisms, TYR c.[575 C > A;1205 G > A] p.[(Ser192Tyr);(Arg402Gln)], was found to be particularly prevalent. One participant had GPR143-associated X-linked ocular albinism and another proband had biallelic variants in SLC38A8, a glutamine transporter gene associated with foveal hypoplasia and optic nerve misrouting without pigmentation defects. Intriguingly, 2/12 individuals had a single, rare, likely pathogenic variant in each of TYR and OCA2 – a significant enrichment compared to a control cohort of 4046 individuals from the 100,000 genomes project pilot dataset. Overall, our findings highlight that panel-based genetic testing is a clinically useful test with a high diagnostic yield in children with partial/ocular albinism.