A novel PAX6 mutation causes congenital aniridia with or without retinal detachment

Background: Aniridia is a rare developmental eye disorder characterized by complete or partial iris hypoplasia often accompanied with other ocular changes that affect the cornea, anterior chamber, lens, retina, and optic nerve. Most cases of aniridia are inherited with an autosomal dominant mode of inheritance caused by PAX6 mutations or deletions. To reveal the underlying genetic defect in a four-generation Iranian family with aniridia, we carried out a genetic screening of PAX6.

Methods: Complete ophthalmic examinations were performed for available affected family members. All PAX6 exons and their flanking regions were sequenced for affected individuals. Candidate variation was screened for segregation in the pedigree by Sanger sequencing. Bioinformatics prediction was done to evaluate the deleterious effects of the mutation on protein product. Real-time PCR was used to investigate the impact of the variant on PAX6 mRNA expression.

Results: All patients were diagnosed with isolated aniridia associated with variable phenotypic features including retinal detachment. A novel heterozygous deletion c.320_348delTGTCCGAGGGGGTCTGTACCAACGATAAC (p.Leu107HisfsX16) on PAX6 gene was detected. Decreased mRNA level of PAX6 in the affected individuals indicated that the mutation caused nonsense-mediated mRNA decay (NMD).

Conclusions: To the best of our knowledge, it is the first report on the genetics of aniridia in Iran. Segregation analysis, bioinformatics prediction and confirmation of NMD, all support the proposition that the novel observed PAX6 mutation is the cause of aniridia in the pedigree. Retinal detachment in some of the affected members, which is a rare reported phenotypic feature of aniridia patients, may be associated with this mutation.     

白内障超声乳化人工晶体术后视网膜脱离临床分析

目的 探讨超声乳化白内障人工晶体术后视网膜脱离的特点及手术疗效。方法 对16例视网膜脱离患者做常规巩膜扣带术或玻璃体切割联合眼内填充进行回顾性分析。结果 视网膜脱离手术后完全复位14例，一次复位率为87．5％，另2例患者经二次手术后完全复位，视力均有不同程度提高。结论 对该类患者术前应仔细检查，选择合适的手术方式尽早施行手术，以提高疗效。     

脉络膜挫伤

回顾６４例外伤性脉络膜挫伤。多发于２０－３０岁的青年男性；最常见有拳击伤；临床主要表现为视力下降，眼底可见脉络膜出血灶及裂伤口，荧光眼底血和造影可帮助诊断。脉络膜挫伤多发生于黄斑部，其次为视乳头周围，多为单个，１－ＰＤ大小，脉络膜破裂的形态多为长弧形，脉络膜出血多为圆形；脉络膜破裂与出血常同时出现。     

Uveal effusion syndrome

The history and clinical findings are presented of a patient who suffered from the uveal effusion syndrome over a 10-year period from 1956. The funduscopic appearance is illustrated both at the time of initial presentation and 36 years later. This condition typically affects healthy middle-aged men and causes recurrent, spontaneous, serous retinal and ciliochoroidal detachments, often resulting in significant visual impairment. Two separate hypotheses have been postulated to explain the pathogenesis of the uveal effusion syndrome, one relating to abnormally thickened sclera, the other to chronic bulbar hypotony. Both are discussed, as is the rationale behind the current management of this unusual condition.     

视网膜脱离手术复位后ERG的恢复

为探讨视网膜脱离手术复位后ERG的改变，对35例（35眼）患者进行手术前后ERG检测，结果表明；（1）视网膜脱离术前ERGa、b波幅明显低于有视网膜格子样变性而无脱离者。（2）手术复位后ERGa、b波幅随时间延长逐渐回升。（3）视网膜脱离范围二个象限以内者ERGa、b波幅回升高于二象限以上者。（4）手术范围一个象限以内者与超过一个象限者相比前者ERG恢复优于后者。（5）视网膜脱离时间2月以内与超过2月相比，ERG恢复前者明显优于后者。结果证实视网膜脱离术后ERG恢复与手术后时间、脱离范围、病程及手术范围密切相关。     

青年性前部视网膜劈裂锯齿缘断离及视网膜脱离

目的：探讨青年性前部视网膜劈裂锯齿缘断离及视网膜脱离的临床特点、治疗及其预后。方法：对青年性前部视网膜劈裂锯齿缘断离合并视网膜脱离患者10例20只眼进行常规检眼镜眼底及Goldmann三面镜联合巩膜压陷检查，根据不同情况进行激光光凝，或巩膜冷凝外加压手术治疗，并随访1～5年。结果：共lO例，年龄17～32岁，8例为双眼患病，病变位于颞下，双侧对称。11眼同时患有前部视网膜劈裂、锯齿缘断离及视网膜脱离，3眼患有前部视网膜劈裂及锯齿缘断离，1眼仅有前部视网膜劈裂，3眼仅有锯齿缘断离其中2眼合并视网膜脱离。13眼合并视网膜脱离者采用巩膜冷凝外加压术，全部一次治愈，5眼行激光封闭锯齿缘断离及劈裂区。随访期间未见视网膜脱离，视力均有不同程度提高。结论：青年性前部视网膜劈裂锯齿缘断离及视网膜脱离有典型的临床特点，尽早发现、适宜治疗，预后良好。     

Retinal arteriovenous communication in retinitis pigmentosa with Refsum's disease-like findings

In this report we describe, herewith, a patient with primary pigmentary dystrophy of the retina (retinitis pigmentosa) associated with unilateral retinal arteriovenous communication and exudative retinal detachment. The patient had complete resolution of the retinal detachment following laser photocoagulation treatment. Such association has not been previously reported.     

Fluid shear induced endothelial cell detachment from glass - influence of adhesion time and shear stress

In this study, human umbilical vein and human saphenous vein endothelial cells were seeded on glass and exposed to fluid shear in a parallel-plate flow chamber. Cell retention, morphology and migration were studied as a function of shear stress and of adhesion time prior to exposure to shear. Three-hour and 24-h adhesion times gave rise to comparable cell retention values after 2 h of flow for both cell types. Cell retention decreased from 85 to 20% as shear stress increased from 88 to 264 dynes cm⁻² (8.8 to 26 Pa). Mean spreading areas decreased after the onset of flow, but subsequently stabilized to plateau values, which were smaller at higher shear stresses. Shape factors increased faster to higher values as cells were exposed to higher shear stresses, without any obvious preference in orientation of the cells with respect to the direction of flow. Migration was unidirectional with flow and linear with time. Migration was faster for cells which had adhered for 24 h than for cells which had adhered for 3 h and was accompanied by the presence of fibrillar structures left behind on the surface upstream of migrating cells. It is concluded that after 3 h adhesion to glass, cells have adhered with an adhesion strength that does not substantially increase during the next 21 h. However, during this time changes in cell-substratum interactions seem to occur judging by the differences in, e.g., migration rates.