Microbial spectrum and risk factors of endogenous endophthalmitis in a tertiary center of Northern China

AIM: To study the clinical features, microbial spectrum, associated factors and prognosis of endogenous endophthalmitis(EE) in a group of Chinese patients.METHODS: The medical records from 32 eyes of 29 patients diagnosed with EE in Peking Union Medical College Hospital from January 2009 to October 2019 were reviewed. RESULTS: The initial visual acuity(VA) of 30 eyes in this study was worse than 20/400. Twenty-three eyes were diagnosed with fungal endophthalmitis and nine with bacterial endophthalmitis. The most common fungal and bacterial isolates were Candida and Klebsiella pneumoniae, respectively. Several rare fungi and bacteria species were also isolated from our patients, including Cryptococcus, Paecilomyces, Brucella, and Bacillus licheniformis. The leading risk factor for EE was diabetes. The most common extraocular infection locus was genitourinary tract. Vitrectomy was performed on twenty-nine eyes. Eight eyes achieved final VA of 20/400 or better. EE caused by Candida had a better prognosis.CONCLUSION: The visual outcome of EE is based on pathogens and prompt intervention. Early vitrectomy and antimicrobial treatment are beneficial for EE.

Conjunctival Langerhans Cell Histiocytosis: a Case Report

LANGERHANS cell histiocytosis(LCH)is a rare disease,mainly involving the bone,skin,lung,liver,spleen,and skin.1 The heterogenenous nature of LCH makes it difficult to diagnose.Not only do the involved organs vary from case to case,but also its natural history.Herein,we describe a rare case of conjuctival LCH in an Asian woman.

Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts

Background： Congenital cataract （CC） is the leading cause of visual impairment or blindness in children worldwide. Because of highly genetic and clinical heterogeneity, a molecular diagnosis of the lens disease remains a challenge. Methods： In this study, we tested a three-generation Chinese family with autosomal dominant CCs by targeted sequencing of 45 CC genes on next generation sequencing and evaluated the pathogenicity of the detected mutation by protein structure, pedigree validation, and molecular dynamics （MD） simulation. Results： A novel 15 bp deletion on GJA8 （c.426_440delGCTGGAGGGGACCCT or p. 143147delLEGTL） was detected in the family. The deletion, concerned with an in-frame deletion of 5 amino acid residues in a highly evolutionarily conserved region within the cytoplasmic loop domain of the gap junction channel protein connexin 50 （CxS0）, was in full cosegregation with the cataract phenotypes in the family but not found in 1100 control exomes. MD simulation revealed that the introduction of the deletion destabilized the Cx50 gap junction channel, indicating the deletion as a dominant-negative mutation, Conclusions： The above results support the pathogenic role of the 15 bp deletion on GJA8 in the Chinese family and demonstrate targeted genes sequencing as a resolution to molecular diagnosis of CCs.