JAMA ophthalmology最新文献

Importance: Early detection of glaucoma is essential to timely monitoring and treatment, and primary open-angle glaucoma risk can be assessed by measuring intraocular pressure (IOP) or optic nerve head vertical cup-disc ratio (VCDR). Polygenic risk scores (PRSs) could provide a link between genetic effects estimated from genome-wide association studies (GWASs) and clinical applications to provide estimates of an individual's genetic risk by combining many identified variants into a score.

Objective: To construct IOP and VCDR PRSs with clinically relevant predictive power.

Design, setting, and participants: This genetic association study evaluated the PRSs for 6959 of 51 338 individuals in the Canadian Longitudinal Study on Aging (CLSA; 2010 to 2015 with data from 11 centers in Canada) and 4960 of 5107 individuals the community-based Busselton Healthy Aging Study (BHAS; 2010 to 2015 in Busselton, Western Australia) with an artificial intelligence grading approach used to obtain precise VCDR estimates for the CLSA dataset. Data for approximately 500 000 individuals in UK Biobank from 2006 to 2010 were used to validate the power of the PRS. Data were analyzed from June to November 2023.

Main outcomes and measures: IOP and VCDR PRSs and phenotypic variance (R2) explained by each PRS.

Results: Participants in CLSA were aged 45 to 85 years; those in BHAS, 46 to 64 years; and those in UK Biobank, 40 to 69 years. The VCDR PRS explained 22.0% (95% CI, 20.1-23.9) and 19.7% (95% CI, 16.3-23.3) of the phenotypic variance in VCDR in CLSA and BHAS, respectively, while the IOP PRS explained 12.9% (95% CI, 11.3-14.6) and 9.6% (95% CI, 8.1-11.2) of phenotypic variance in CLSA and BHAS IOP measurements. The VCDR PRS variance explained 5.2% (95% CI, 3.6-7.1), 12.1% (95% CI, 7.5-17.5), and 14.3% (95% CI, 9.3-19.9), and the IOP PRS variance explained 2.3% (95% CI, 1.5-3.3), 3.2% (95% CI, 1.3-5.8), and 7.5% (95% CI, 6.2-8.9) (P < .001) across African, East Asian, and South Asian populations, respectively.

Conclusions and relevance: VCDR and IOP PRSs derived using a large recently published multitrait GWAS exhibited validity across independent cohorts. The findings suggest that an IOP PRS has the potential to identify individuals who may benefit from more intensive IOP-lowering treatments, which could be crucial in managing glaucoma risk more effectively. Individuals with a high VCDR PRS may be at risk of developing glaucoma even if their IOP measures fall within the normal range, suggesting that these PRSs could help in early detection and intervention, particularly among those who might otherwise be considered at low risk based on IOP alone.

Importance: In-office suprachoroidal viscopexy (SCVEXY) is a relatively new procedure for rhegmatogenous retinal detachment (RRD), but minimal information is available regarding outcomes and safety.

Objective: To report outcomes with in-office SCVEXY for primary acute RRD.

Design, setting, and participants: This retrospective case series was conducted at St Michael's Hospital in Toronto, Ontario, Canada from June 2023 to February 2024 among consecutive patients with primary acute RRDs who presented with retinal tears that were reachable with the current in-office SCVEXY technique in the temporal or nasal retina.

Exposure: Suprachoroidal injection of 0.6 mL of sodium hyaluronate, 2.3%, at the break location using a 30-gauge needle with a custom-made guard leaving 1 mm of the needle exposed. Laser retinopexy was applied around the break once reattachment was achieved.

Main outcome and measures: The primary outcome was primary anatomic reattachment rate with SCVEXY and recovery of function and anatomic integrity.

Results: Among 6 patients, 2 patients (33.3%) were female, and mean (SD) patient age was 52.5 (19.7) years. The final follow-up duration for each patient was 510, 420, 360, 360, 330, and 320 days, respectively. Baseline VAs were hand motions, counting fingers, 20/100, 20/100, 20/25, and hand motions for patients 1 through 6, respectively. A dome-shaped suprachoroidal buckle was present in all cases after the procedure. Five of 6 patients (83.3%) achieved anatomic reattachment with no retinal displacement or outer retinal folds, and these patients could resume normal activity immediately after the procedure with no restrictions. The mean (SD) logMAR VA at 3 months was +0.46 (0.34) (Snellen 20/57). The viscoelastic persisted in the suprachoroidal space as confirmed by multimodal imaging for 10, 14, 21, 13, 24, and 14 days, respectively, and the retina remained attached during the entire postoperative follow-up period. One patient's SCVEXY failed due to inadequate viscoelastic at the posterior edge of the retinal break, and this patient underwent a successful pneumatic retinopexy. One patient developed a localized choroidal effusion unrelated to the SCVEXY site following laser retinopexy that resolved in 1 week associated with topical prednisolone, 1%, 4 times daily and cyclopentolate, 1%, twice daily.

Conclusions and relevance: In this case series, the outcomes of these 6 cases suggest that SCVEXY may offer durable retinal reattachment in RRD. However, randomized clinical trial data, larger sample sizes, and longer-term follow-up are necessary to assess the risk-benefit profile of SCVEXY compared with the standard of care.