Purpose Several nonsyndromic high-grade myopia loci have been mapped primarily by microsatellite markers and a limited number of pedigrees. In this study, whole-genome linkage scans were performed for high-grade myopia, using single nucleotide polymorphisms (SNPs) in 254 families from five independent sites. Methods Genomic DNA samples from 1411 subjects were genotyped (Linkage Panel IVb; Illumina, San Diego, CA). Linkage analyses were performed on 1201 samples from 10 Asian, 12 African-American, and 221 Caucasian families, screening for 5744 SNPs after quality-control exclusions. Two disease states defined by sphere (SPH) and spherical equivalence (SE; sphere+cylinder/2) were analyzed. Parametric and nonparametric two-point and multipoint linkage analyses were performed using the FASTLINK, HOMOG, and MERLIN programs. Multiple stratified datasets were examined, including overall, center-specific, and race-specific. Linkage regions were declared suggestive if they had a peak LOD score ≥ 1.5. Results The MYP1, MYP3, MYP6, MYP11, MYP12, and MYP14 loci were replicated. The novel region q34.11 on chromosome 9 (max NPL= 2.07 at rs913275) was identified. Chromosome 12, region q21.2-24.12 (36.59 cM, MYP3 locus) showed significant linkage (peak HLOD = 3.48) at rs337663 in the overall dataset by SPH and was detected by the Duke, Asian, and Caucasian subsets as well. Potential shared interval was race dependent—a 9.4-cM region (rs163016–rs1520724) driven by the Asian subset and a 1343-cM region (rs163016–rs1520724) driven by the Caucasian subset. Conclusions The present study is the largest linkage scan to date for familial high-grade myopia. The outcomes will facilitate the identification of genes implicated in myopic refractive error development and ocular growth.

While optometrists working within the UK HES continue to undertake the traditional clinical roles of refraction, clinically necessary contact lenses, and low vision rehabilitation, it is clear that these professionals now undertake a wide range of extended clinical roles, with a transformed scope of practice now incorporating diverse roles traditionally undertaken by medical practitioners.

As the landscape in ophthalmology and related commissioning continues to change, there is a pressing need to re-evaluate the current scope of practice of hospital optometrists working within secondary care in the UK. We aim to establish if the skills or services delivered by optometrists have changed to meet varying demands, and to better understand what changes in practice may have arisen as a result of COVID-19. Method: A survey developed from that used in 2015 was disseminated to 129 optometry Hospital Eye Service (HES) leads in September 2020, including questions on department workforce; core services; extended roles; procedures undertaken within extended roles; level of autonomy; arrangements for prescribing; training and accreditation, and service changes in response to COVID-19.Results: Ninety responses were received (70% response rate) from within England (76%), Scotland (22%) and Northern Ireland (2%). Whole time equivalents within units ranged from 0.4-79.2 (median of 2.5). In comparison to the 2015 survey, there was an increase in the proportion of units delivering extended roles, with glaucoma (88%) remaining the most common extended role, and new areas of practice in uveitis (21%) and vitreoretinal (13%) services. There was increased use of independent prescribing (67%) in comparison to 18% in 2015 and there was an increase in optometrists delivering laser interventions. In response to COVID-19, optometrists were increasingly delivering telephone consultations and there were new collaborations between primary and secondary care.Conclusions: Optometrists' scope of practice continues to develop in the HES with an increased variety of roles and an apparent increase in the number of units employing optometrists, often working in roles historically performed by medical practitioners. Such changes appear necessary in recovery and transformation