Characterizing the genotypic spectrum of retinitis pigmentosa in East Asian populations: a systematic review.

BACKGROUND: Ongoing trials for retinitis pigmentosa (RP) are genotype-specific, with most trials conducted on European cohorts. Due to genetic differences across diverse ancestries and populations, these therapies may not be efficacious in East Asians. MATERIALS AND METHODS: A literature search was conducted from 1966 to September 2022 for cohort studies on East Asian populations reporting on non-syndromic RP genotypes and variants. Population-weighted prevalence was used to determine the genotypes and individual variants across the entire cohort. The carrier prevalence of common variants was compared against those in Europe. RESULTS: A total of 12 articles describing 2,932 clinically diagnosed East Asian RP probands were included. We identified 876 variants across 54 genes. The most common genotypes included USH2A, EYS, RPGR, ABCA4, PRPF31, RHO, RP1, RP2, PDE6B and SNRNP200, with USH2A as the most common (17.1%). Overall, 60.5% of probands with clinically relevant variants were found to have one of the genotypes above, with 543/876 (62.0%) of the variants occurring in these genes. The most frequently reported variant was USH2A missense variant c.2802T>G/p.C934W (4.9%). Carrier prevalence of these variants was significantly different (p < 0.0001) than in Europe. CONCLUSIONS: USH2A was the most commonly affected RP gene in this East Asian cohort, although sub-population analysis revealed distinct genotype prevalence patterns. While the genotypes are similar between East Asia and European cohorts, variants are specific to East Asia. The identification of several prevalent variants in USH2A and EYS provides an opportunity for the development of therapeutics that are relevant for East Asia patients.

Cholecystectomy for asymptomatic gallstones: Markov decision tree analysis.

Gallstones are a common public health problem, especially in developed countries. There are an increasing number of patients who are diagnosed with gallstones due to increasing awareness and liberal use of imaging, with 22.6%-80% of gallstone patients being asymptomatic at the time of diagnosis. Despite being asymptomatic, this group of patients are still at life-long risk of developing symptoms and complications such as acute cholangitis and acute biliary pancreatitis. Hence, while early prophylactic cholecystectomy may have some benefits in selected groups of patients, the current standard practice is to recommend cholecystectomy only after symptoms or complications occur. After reviewing the current evidence about the natural course of asymptomatic gallstones, complications of cholecystectomy, quality of life outcomes, and economic outcomes, we recommend that the option of cholecystectomy should be discussed with all asymptomatic gallstone patients. Disclosure of material information is essential for patients to make an informed choice for prophylactic cholecystectomy. It is for the patient to decide on watchful waiting or prophylactic cholecystectomy, and not for the medical community to make a blanket policy of watchful waiting for asymptomatic gallstone patients. For patients with high-risk profiles, it is clinically justifiable to advocate cholecystectomy to minimize the likelihood of morbidity due to complications.