A patient homozygous for the SCA6 gene with retinitis pigmentosa

The present authors studied a 55-year-old-patient homozygous for the SCA6 gene who experienced frequent attacks of positional vertigo at 37 years of age with subsequent staggering gait and night blindness. Retinitis pigmentosa (RP), as well as cerebellar ataxia and vertical antidirectional nystagmus, were detected. The subject's parents were first cousins, and two of his three male cousins, whose parents were also first cousins, had RP without ataxia or nystagmus. The numbers of CAG repeats in the expanded alleles of the SCA6 gene found by molecular analysis were 21 and 21. The genetic results were negative for SCA1, SCA2, SCA3, SCA7 and dentatorubral pallidoluysian atrophy. The retinal degeneration in this patient is most likely to be secondary to a genetic disorder of autosomal or X-linked recessive inheritance rather than SCA6. Other reported cases of patients homozygous for the SCA6 gene are also reviewed.     

Analysis of ABCA4 in mixed Spanish families segregating different retinal dystrophies

Genotype-phenotype correlations highlighted the function of ABCA4 in retinitis pigmentosa (RP),cone-rod dystrophy (CRD) and Stargardt/Fundus Flavimaculatus disease (STGD/FFM). Initial screening of ABCA4 variants showed a correlation between the type of mutation and the severity of the disease. In the present study we have undertaken mutational and haplotype analysis of ABCA4 in three mixed pedigrees segregating different retinal dystrophies. In family I, we have shown cosegregation of different ABCA4 alleles with CRD (homozygosity for L1940P) and three subtypes of STGD/FFM. The first, a mild form, consisting on fundus flavimaculatus-like distribution of flecks, but good visual acuity and absence of dark choroid, was found to cosegregate with alleles R1097C and F553L; the second, a conventional Stargardt phenotype was associated to alleles L1940P/R1097C and the third, displaying severely reduced visual acuity and dark choroid (named FFM), was associated to L1940P/F553L. In family II, segregating STGD and RP phenotypes, while the involvement of ABCA4 in STGD seems clear this is not the case for RP. Finally, in family III, also segregating STGD and RP, ABCA4 fails to explain either phenotype. Our data highlight the wide allelic heterogeneity involving this gene and support the genetic variability (beyond ABCA4) of mixed STGD/RP pedigrees.     

针刺治疗视网膜色素变性的组穴规律分析

目的:基于数据挖掘技术分析文献中针刺治疗视网膜色素变性穴位的组方规律。方法:检索国家知识基础设施数据库（CNKI）、中国学术期刊数据库（CSPD）、中文科技期刊数据库（CCD）文献中治疗视网膜色素变性所使用的穴位处方,使用中医传承计算平台（V3.1）进行数据挖掘,分析针刺治疗视网膜色素变性的取经、选穴和配伍规律。结果:共纳入文献47篇,应用频次前5位的腧穴为球后、睛明、太阳、足三里、合谷;奇穴选用频次最高,经脉选用频次前3位依次为足太阳膀胱经、足少阳胆经、足阳明胃经;取穴部位以头颈部选取最多;其次为下肢部和上肢部。结论:针刺治疗视网膜色素变性的核心经脉为足太阳膀胱经、足少阳胆经及足阳明胃经,核心组穴为球后、睛明及太阳,配以足三里、合谷、光明、三阴交等穴,其取穴规律以局部取穴以及邻近取穴直达病所为主,远端取穴以足三里、合谷等辅以调理脏腑经络。     

一种测量视网膜锥体闪烁光ERG的改良方法：闪烁指数分析法

闪烁光ＥＲＧ是反映视网膜锥体活动的客观指标。但在诸如视网膜色素变性等一些视锥功能处于高度受累的疾病，反应波形呈现非窦状，使用以往在分析中采用的峰－峰值测量法，则不能有效地反应出波形所代表的真切含义。本文根据病理状态下闪烁光反应的波形特点，特此提出一项测量闪烁光ＥＲＧ振幅的改良方法，即闪烁指数（ｆｌｉｃｋｅｒｉｎｄｅｘｔ．ＦＩ）分析法，并通过数学方法推导出一项闪烁指数测量公式以代替方格卡尺测量法。应用本法已在实践中获得良好的验证，从而认为应用此项方法可以准确、客观、迅速地测量得锥体闪烁光的反应状态，特别是在对锥体功能呈病理状态的一些视网膜疾病的观测。通过计算机程序化处理，ＦＩ分析法可为临床视觉电生理研究提供一种有效的手段。     

Plötzlicher Tod bei Urticaria pigmentosa

Zusammenfassung Es wird über den plötzlichen Tod eines 25jährigen berichtet, bei dem seit 6 Jahren eine Urticaria pigmentosa bekannt war. Er wurde an einem kalten Novembermorgen auf dem taunassen Rasen tot aufgefunden. Histologisch fanden sich keine Anhaltspunkte für eine systemische Mastozytose. Die biochemischen Untersuchungen (stark erhöhter Histamin-Wert im Urin) erklärten zusammen mit der BAK von 0,72 und der Auffindesituation (Kältereiz) den todlichen Pathomechanismus, eine generalisierte anaphylaktoide Reaktion. Sonderdruckanfragen an: J. Bolt     

视网膜色素变性的黄斑局部视网膜电图频谱分析

目的 通过对黄斑局部视网膜电图（ＬＥＲＧ）的Ｆｏｕｒｉｅｒ分析,进一步了解视网膜色素变性（ＲＰ）患者黄斑部光感受器细胞与光感受器后神经元细胞功能异常的情况。方法 ４９例ＲＰ患者的ＩＥＲＧ被记录研究。应用手提眼底镜式局部刺激器通过放大的瞳孔直视眼底监控固视状况,闪烁光频率３１Ｈｚ。结果 与对照组相比,ＬＥＲ的基波（ｆｕｎｄａｍｅｎｔａｌ ｈａｒｍｏｎｉｃ,ｉｆ）与二次谐波（ｓｅｃｏｎｄ ｈａｍｏｎｉ     

Bilateral cystoid macular edema following successful treatment of AIDS-associated CMV retinitis

Background: Cystoid macular edema (CME) in AIDS patients with inactive cytomegalovirus (CMV) retinitis is an uncommon but potentially sight-threatening complication. The pathogenesis of CME in these patients is unclear. This study tries to identify possible risk factors by analyzing the charts of five patients. Methods: Ten eyes of 5 patients that finally developed CME were followed for an average of 18 months. The initial retinal lesions, their response to antiviral treatment, the development of CME, and the patients' immune status were prospectively monitored. Results: CMV retinitis was diagnosed at a median CD4+ count of 3 cells/mm³ (range 0–11). All eyes responded to the initial systemic anti-viral treatment. At the onset of CME, CMV retinitis was controlled by antiviral maintenance therapy in all patients [ganciclovir (n = 2), cidofovir (n = 2), foscarnet (n = 1)]. The median time between diagnosis of CMV retinitis and onset of CME was 11.5 months (range 5–24). Development of CME was associated with significant visual loss: acuity ranged from 0.05 to 0.7 when CME was first noticed, compared to 0.8–1.25 at diagnosis of CMV retinitis. Duration of inflammation, size or zone of retinal necrosis did not favor the development of CME, neither did the antiviral therapy. A weak correlation of CME development and immune status (expressed as increase of CD4+ cells) was found. Due to systemic corticosteroids CME resolved. Conclusions: CME is a new visual threat to AIDS-patients with CMV retinitis whose immune status improved under the latest combined antiretroviral therapy. Therapy with oral corticosteroids may positively influence this condition.