目的 研究一个常染色体显性遗传视网膜色素变性（ADRP）大家系的致病基因及其相关表型特征。方法 应用基因组扫描定位和突变检测法确定该家系的致病基因，并对其进行详细的家系调查，同时选取该家系不同代别中11例有症状的患者和7例无症状的个体，进行视网膜电图（ERG）、多焦视网膜电图（mERG）、心理物理学及荧光素眼底血管造影等检测。结果 在19号染色体PRPF-31基因5号内含子-1处发现一新的剪接位点突变（IVS5-1G→A）。家系中有症状的患者均在10岁以前发病，病情进展快而严重，呈Ⅰ型弥漫性视网膜色素变性（RP）表现。Goldmann视野检查，30岁以上患者动态视野大范围缺损，部分患者仅存颞侧视岛，静态视野阈值无法查出；mERG检测：双眼暗视a、b波振幅极度下降且低平，呈熄灭型；多焦视网膜电图显示双眼黄斑区及其周围视网膜反应密度显著降低；荧光素眼底血管造影显示黄斑中央凹周围色素上皮萎缩，呈“牛眼样”外观。7例无症状者中，1例经mERG、心理物理学及分子遗传学检测，证实其为轻症RP患者，另1例为疾病基因的杂合携带者。结论 PRPF-31基因5号内含子-1剪接位点突变（IVS5-1G→A）是ADRP的一种新的突变位点。该突变所致的ADRP表型主要为Ⅰ型弥漫性RP，同时，还存在基因外显不全和表现度不一的变异性表达。

Purpose: The autosomal dominant form of retinitis pigmentosa (ADRP) can be caused by mutations in 13 genes and a further locus for which the gene remains to be identified. This study was intended to identify mutations in a large Chinese pedigree with ADRP. Methods: A genome scan was conducted in the family. The whole coding sequences and the intron-exon boundaries of candidate genes were amplified and sequenced. The reverse transcriptase polymerase chain reaction (RT-PCR) was performed to amplify the mutated mRNA. Results: The strongest evidence of linkage was detected with three adjacent microsatellite markers genotyped between D19S902 and D19S210 on chromosome 19q13.33-13.43. Within the region, a single nucleotide change (G>A) at position-1 of Intron 5 of PRPF31 was found. The consensus AG doublet of the Intron 5 splice acceptor was changed to AA. The mutation co-segregated with the disease phenotype, suggesting that it was the disease-causing mutation in this family. This splicing site mutation is predicted to cause an erroneous splicing of Exon 6. By RT-PCR, we found the mutated nucleotide of Intron 5 (A) and the first nucleotide of Exon 6 (G) was regarded as a new splice acceptor, resulting in 1 bp deletion of the first codon of Exon 6 (GAG-to-AG) at the mRNA level. This change led to a frameshift and truncated protein of 196 amino acids with 56 novel amino acids prior to a premature stop. Conclusions: A novel splicing mutation (IVS5-1G>A) in the pre-mRNA splicing-factor gene PRPF31 causes retinitis pigmentosa in a large Chinese family. The mutation results in a truncated protein of PRPF31.

目的：观察板层角膜联合新鲜羊膜移植治疗各种早期严重角、结膜碱性化学伤的临床疗效。方法：对23例（23眼）因各种碱性化学物质所致，Roper-Hall分级Ⅱ度以上，病程在2周内的早期严重角、结膜化学伤患者，施行板层角膜联合羊膜移植术，并结合皮质激素等治疗，术后随访6～12（平均8.3）月。结果：23眼中角膜植片透明7眼，半透明10眼，混浊6眼；有2眼术后发生排斥反应，经1%环孢素A和皮质激素治疗后角膜水肿消退，但植片混浊。术后视力≥0.3者3眼，0.25～0.1者5眼，0.01～0.1者9眼，指数以下者6眼。无1眼因角膜溶解穿孔而摘除眼球者。结论：对严重角、结膜碱性化学伤眼早期进行板层角膜联合羊膜移植，可有效地清除坏死的角、结膜组织和炎症细胞，减少和防止并发症发生，改善患者的预后。

为了探讨在五年制临床医学专业本科学生中开展双语教学对教学质量的影响，通过无记名问卷调查，并随机对照分析双语教学班和常规汉语教学班眼科学专业课程考试平均成绩和英文试题得分率。结果表明：双语教学不仅能促进医学生对眼科学专业知识的学习，而且有利于培养和增强学生专业英语的表达能力，从而提高教学质量。