Identification of an immune-related signature for the prognosis of uveal melanoma.

AIM: To construct an immune-related prognostic signature (IPS) that can distinguish and predict prognosis in uveal melanoma (UM). METHODS: The transcriptomic data and clinicopathological information of 80 UM patients were extracted from the TCGA database. These patients were randomly assigned to a training and a testing set. RESULTS: Lasso Cox analysis was performed for the prognostic immune-related genes to develop an IPS for UM in the training set. The signature was validated in both the testing set and entire cohort. We confirmed the prognostic value of our IPS in distinct subgroups and found its association with the T stage and basal diameter of the tumor. Tumor Immune Estimation Resource database analysis revealed that the IPS was negatively correlated with the infiltration of neutrophils and dendritic cells, but positively correlated with the infiltration level of CD8+ T cells. In addition, we demonstrated that immune checkpoints containing PD-1, CTLA-4, IDO, and TIGIT were moderately associated with the IPS. CONCLUSION: This is the first study to develop and validate an immune-related signature with the ability of predicting prognosis for UM patients. Further studies are needed to validate its prediction accuracy.

R102W mutation in the RS1 gene responsible for retinoschisis and recurrent glaucoma.

AIM: To identify the mutations in RS1 gene associated with typical phenotype of X-linked juvenile retinoschisis (XLRS) and a rare condition of concomitant glaucoma. METHODS: Complete ophthalmic examinations were performed in the proband. The coding regions of the RS1 gene that encode retinoschisin were amplified by polymerase chain reaction and directly sequenced. RESULTS: The proband showed a typical phenotype of XLRS with large peripheral retinal schisis in both eyes, involving the macula and combined with foveal cystic change, reducing visual acuity. A typical phenotype of recurrent glaucoma with high intraocular pressure (IOP) and reduced visual field was also demonstrated with the patient. Mutation analysis of RS1 gene revealed R102W (c.304C>T) mutations in the affected male, and his mother was proved to be a carrier with the causative mutation and another synonymous polymorphism (c.576C>CT). CONCLUSION: We identified the genetic variations of a Chinese family with typical phenotype of XLRS and glaucoma. The severe XLRS phenotypes associated with R102W mutations reveal that the mutation determines a notable alteration in the function of the retinoschisin protein. Identification of the disease-causing mutation is beneficial for future clinical references.

[A new model of blindness prevention with the target of cataract elimination].

OBJECTIVE: To discuss an innovative model of blindness prevention targeting the elimination of cataract blindness. METHODS: The patients aged 50 or above underwent one mature procedure of small incision cataract surgery. It was performed at our class 3A hospital with advanced medical skills, superior medical services and management system. RESULTS: A total of 36 681 subjects were examined and 10 090 required operations. And 7624 operations were performed in 5 years. Blindness was eliminated in 99.3% of those blind surgical patients while 95.0% of low vision ones improved. The prevalence of surgical complications was 0.8%. Recovery occurred after a proper treatment. CONCLUSION: With a high quality, a high efficiency but a low cost, this innovative model of blindness prevention is reproducible, propagable and suitable for China's conditions and scale-ups.