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.     

糖尿病黄斑水肿患者病变程度与脉络膜厚度的关系

目的　利用频域光学相干断层扫描深度增强（enhanced depth imaging spectral domain optical coherence tomography，EDI SD-OCT）观察糖尿病黄斑水肿（diabetic macular edema，DME）患者脉络膜厚度（choroidal thickness，CT）的变化及结构特点，探讨DME病变程度与CT的关系。方法　纳入2型糖尿病患者共123例204眼，其中69眼诊断为DME（DME组），135眼无黄斑水肿为对照组。DME眼依据OCT形态学特点进一步分为视网膜弥漫性增厚（diffuse retinal thickness，DRT）型（34眼）、黄斑囊样水肿（cystoid macular edema，CME）型（19眼）和浆液性视网膜脱离（serous retinal detachment，SRD）型（16眼），利用EDI-OCT分别测量黄斑中心凹下CT和以黄斑为中心上、下、鼻、颞500 μm、1000 μm、1500 μm、2000 μm处CT。结果　DME组黄斑中心凹下CT为（326.72±90.15）μm，对照组为（320.17±106.46）μm，两组之间无统计学差异，但黄斑中心凹下CT与视网膜厚度间具有明显正相关关系（r=0.270，P=0.025）。DME亚型CT分别为:DRT型（303.94±81.47）μm、CME型（304.42±73.98）μm和SRD型（401.63±88.80）μm，SRD型CT明显高于其他亚型（P<0.05），此外，SRD型的周边CT同样呈现均匀一致的增厚；鼻侧CT从500 μm至2000 μm呈距离敏感性降低（P<0.05），但SRD型鼻侧CT降低幅度明显变缓（P=0.195）。结论　SRD型黄斑水肿患者CT在中心凹下及周边部均显著增厚，CT与DME病变程度之间有一定相关性。     

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。     

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。     

106Ru/106Rh plaque radiotherapy for malignant melanomas of the choroid

Therapeutic results are presented with follow-up examinations of at least 5 years (min. 5 years, max. 22 years) after ¹⁰⁶Ru/¹⁰⁶Rh plaque radiotherapy of posterior uveal melanomas. Out of 227 patients 146 (= 64.3%) could be treated successfully, 37 (= 16.3%) had to be enucleated and are alive, 44 (= 19.4%) died from metastases and 40 (17.6%) from other causes. 75.0% of all small melanomas (T1a) showed an excellent regression pattern to flat scars. Five years after treatment the survival rate was 83.7% (deaths from any causes) respectively 88.2% (deaths from metastases only) and 64.8% (deaths from any causes) respectively 79.7% (deaths from metastases only) ten years after irradiation. ¹⁰⁶Ru/¹⁰⁶Rh plaque radiotherapy can be recommended for small (Tla, b) and medium sized (T2) choroidal melanomas.     

The anterior choroidal artery syndrome

We reviewed 12 cases of infarcts in the territory of the anterior choroidal artery (AChA) on CT and/or MRI. In each case vascular occlusion in the region was verified angiographically. Although the extent of the lesion on CT/MR images was variable, all were located on the axial images within an arcuate zone between the striatium anterolaterally and the thalamus posteromedially. The distribution of the lesions on mutiplanar MRI conformed well to the territory of the AChA demonstrated microangiographically. The variability of the extent of the infarcts may be explained by variations in the degree of occlusive changes in the AChA or the development of collateral circulation through anastomoses between the AChA and the posterior communicating and posterior cerebral arteries. The extent of the lesion appeared to be closely related to the degree of neurological deficit.