ObjectiveTo explore the necessity, construction plans, and implementation methods for the establishment of a fundus disease-specific biobank are discussed. MethodsAn evidence-based medicine study. “Biobank”, “Disease-specific biobank”, “Eye diseases”, “Fundus disease” were hereby used as search terms. Literatures were retrieved related to biobank construction from PubMed, Embase, China National Knowledge Infrastructure, and Wanfang databases since their establishment until October 2023. Two researchers independently selected and analyzed literature, extracting data for further analysis. ResultsAfter screening, 23 articles were included, comprising 11 articles in Chinese and 12 articles in English, involving 23 institutions. The disease-specific biobank has been built earlier abroad than domestically. Both domestic and foreign biobank have a scale of less than 1, 1 to 10, and more than 10 thousand samples, with the eye disease-specific biobank having less than 10 thousand samples. The majority of these disease-specific biobank focued on tumor-related diseases and consist of both physical and information components. Ethical committees were required to declare and record the construction of biobank, and dedicated personnel and information management systems are established. Quality control systems have been developed with standard operating procedures from sample collection to storage. These disease-specific biobank effectively supported research projects, but there was a lack of resource sharing domestically compared to abroad. Based on practical experience, the construction of fundus disease-specific biobank at West China Hospital of Sichuan University has been improved. Separate sample collection processes have been formulated for outpatient clinics and operating rooms. Standard operating procedures have been established for unique eye samples, including vitreous fluid, proliferative membranes of the retina, aqueous humor, tears, etc., to ensure sample quality. ConclusionEstablishing a fundus disease-specific biobank can promote basic and clinical research, advance the development of translational medicine, achieve resource sharing, and foster discipline development.
ObjectiveTo conduct a systematic review of clinical manifestations, treatment, and associated genotyping of Sorsby fundus dystrophy (SFD). MethodsAn evidence-based medicine study. Sorsby fundus dystrophy, anti-vascular endothelial growth factor therapy, choroidal neovascularization, macular neovascularization, and TIMP3 gene were hereby used as search terms. Relevant literature was searched in CNKI, Wanfang, PubMed of the National Library of Medicine, and Embase of the Netherlands. The time span for literature searching ranged from the establishment of the database to April 2022, and two reviewers independently screened the literature and extracted relevant data, with duplicates, incomplete or irrelevant articles, and review articles excluded. SPSS26.0 software was used for analysis. The 95% confidence interval (CI) was used as an estimate of the effect size. The clinical manifestations, treatment and related pathogenic genes of SFD were counted and recorded. ResultsAccording to the search strategy, 157 pieces of literature were initially retrieved, and 49 eyes of 35 patients from 16 articles were finally included for analysis, among which, 17 patients were male, 13 patients were female, and 5 patients were unknown gender; 16 involved left eyes, 19 involved right eyes, and 14 involved unidentified eyes. The age of the disease onset was 42.33±2.19 years (28-59) years old. There were 19 cases with a positive family history, and the total positive rate was 54.3% (19/35, 95%CI 36%-72%). There were 31 cases of gene mutation, all of which were TIMP3. In the included literature, there were 2 and 2 cases with no mutation and unreported loci, respectively, with a total positive rate of 93.9% (31/33, 95%CI 85%-100%). Among the 31 cases with gene mutation, 22, 4, 1, and 4 cases were in the UK, Germany, Switzerland, and Chinese, respectively, and the detection rates were all 100% (22/22, 4/4, 1/1, 4/4). The clinical manifestations of SFD were mainly yellow-white deposits in the fundus and choroidal neovascularization (CNV) in the macula, thereby leading to a decrease in central vision, followed by the expansion of the deposits to the periphery, the further development of CNV, and a severe decline in vision caused by peripheral retinal and choroidal atrophy. The treatment methods for SFD include photodymatic therapy, anti-VEGF drugs, glucocorticoids, vitamin A, etc., among which, anti-VEGF drugs were considered the first-line treatment, and the combined treatment was provided with a better prognosis than a single treatment. ConclusionsVariations in the TIMP3 gene cause SFD, the fundus characteristic manifestations of which, are yellowish-white deposits and CNV, which develop from the center to the periphery, thus resulting in progressive decline of visual acuity. Current studies have shown that combined therapy presents a better prognosis than monotherapy.