Human herpesvirus 6‐A, 6‐B,and 7 in vitreous fluid samples

Human herpesvirus 6 and 7 (HHV‐6, HHV‐7) have been associated with several neurologic syndromes and have been detected in nervous tissue from healthy persons; however, only two cases of HHV‐6A have been reported to be associated with intraocular inflammatory disease. Vitreous fluid was tested from 101 patients, including 69 samples from patients with ocular inflammation including CMV retinitis, idiopathic retinitis, iritis, and vitritis, for HHV‐6A, HHV‐6B, and HHV‐7 DNA by PCR. HHV‐6A DNA (4,950 copies per ml) was detected in vitreous fluid from one patient with CMV retinitis, HHV‐6B DNA (10,140 copies per ml) was detected in vitreous fluid from one patient with idiopathic ocular inflammation in the absence of CMV DNA, and HHV‐7 was not detected in any of the vitreous samples. HHV‐6A, HHV‐6B, and HHV‐7 DNA are detectable in less than 2% of vitreous samples in patients with ocular inflammation. J. Med. Virol. 82:996–999, 2010. © 2010 Wiley‐Liss, Inc.     

Renal diagnosis without renal biopsy. Nephritis and sensorineural deafness.

Two examples of hereditary nephropathy within the context of clinical syndromes are described. Emphasis is put on the ability to make a renal diagnosis without renal biopsy and the benefits of screening relatives once a diagnosis is achieved. A variant of Alport's syndrome with associated macrothrombocytic thrombocytopenia, known as Epstein's syndrome, is reported. In addition siblings with Alstr?m's syndrome characterized by pigmentary retinal degeneration (causing blindness in early childhood), progressive sensorineural hearing loss, and progressive renal failure are reported. Both cases had previously presented for non-renal pathology in advance of the onset of symptomatic renal failure and may have benefited from appropriate screening.     

视网膜色素变性97例的眼电图研究(英文)

目的 研究视网膜色素变性的超微结构及病理性改变与眼电图之间的关系 方法 采用视觉电生理技术,对97例视网膜色素变性患者进行眼电图(EOG)检测,观察光峰电位等十项指标、并与47名健康者进行比较 结果 视网膜色素变性患者的色素上皮层功能明显损害,97例视网膜色素变性患者的眼电图检测表现为三种类型:①光波明显降低(低波型)54例,占55.67％;②光峰暗谷消失(无波型)14例,占14.43％;③暗谷光峰倒转(倒置型)29例,占29.90％。低波型者提示色素上皮功能轻度损害;无波型者提示色素上皮严重受损,倒置波提示锥体细胞受损较杆细胞为重,明适应阶段锥体细胞反应低下。结论 眼电图的检测有助于视网膜色素变性患者的诊断及判断病程进展情况     

Decreased sleep quality in patients suffering from retinitis pigmentosa

The purpose of this study was to assess the prevalence of sleep disturbance in subjects diagnosed with retinitis pigmentosa (RP), as well as the influence of age and gender. Sleep quality was assessed, by means of the Pittsburgh Sleep Quality Index (PSQI), in people with RP (n=177) and gender-and age-matched normally sighted individuals (n=491). The population was divided, according to their age, in eight decade groups. People on shift-work, with affective disorders or with visual impairment other than RP, were excluded. The influence of cataracts in sleep quality was also studied in non-RP people (n=57), with cataracts significantly impairing visual acuity. Another group of healthy controls (n=190) was studied in different seasons of the year for a possible seasonality in sleep disturbance. Global sleep quality decreased in an age-dependent manner in RP-patients, especially from the second decade of life. Retinitis pigmentosa-patients showed, in relation to age-matched controls: lower subjective sleep quality and efficiency, longer sleep latency, shorter sleep duration, higher daytime dysfunction and a higher use of sleeping medication. No significant differences in sleep quality were found among RP-patients or controls depending either on their gender or on the presence of cataracts. Normal sighted individuals did not show seasonality in their sleep quality. We conclude that the sleep quality of RP-patients decreases in an age-dependent manner and points to the probably degeneration of photoreceptors mediating the photic input to the suprachiasmatic nuclei of the hypothalamus in this disease.     

大疱性色素性荨麻疹1例

患儿女,4个半月。全身色素斑4个月,起水疱10天。查体:全身弥漫性灰褐色色素斑,表面见较多水疱、大疱及糜烂结痂,尼氏征阴性,Darier征阳性。皮损组织病理检查显示真皮浅层及血管周围见较多单一核细胞浸润,G iem sa染色阳性。诊断为大疱性色素性荨麻疹。     

Red glasses and visual function in retinitis pigmentosa

As a consequence of animal studies reduction of the light regimes have been tried on patients with retinitis pigmentosa. The trials have been very limited and have not given reason for hope that such reduced light therapy may be beneficial. However, RP patients trying red glasses have reported acute subjective improvement of their visual function. It was the purpose of this study to try to document the reports more objectively. Five visual functions were tested with and without red glasses with the following results: 1. Visual acuity and contrast sensitivity. For one volunteer a small reproducible improvement was found. 2. Color vision. In most cases deterioration was found of already deficient color vision. 3. Visual fields. For volunteers with relatively preserved vision no difference or slight deterioration was found. For the other volunteers slight improvements were found. 4. Intraocular light scatter. No differences were found. 5. Dark adaptation. Improvements were found when the glasses were used as adaptation aid according to the method of Trendelenburg (rod function). For cone function no difference was found upon continuous wearing of red glasses.In conclusion: use of red glasses does not seem to be of great benefit as a rule. On the other hand, apart from the reduction in color discrimination no serious disadvantages seem to be inherent in their wear by RP patients.     

Genetic Analysis of FAM46A in Spanish Families with Autosomal Recessive Retinitis Pigmentosa: Characterisation of Novel VNTRs

Retinitis pigmentosa (RP) is a group of retinal dystrophies characterised primarily by rod photoreceptor cell degeneration. Exhibiting great clinical and genetic heterogeneity, RP be inherited as an autosomal dominant (ad) and recessive (ar), X-linked (xl) and digenic disorder. RP25 , a locus for arRP, was mapped to chromosome 6p12.1-q14.1 where several retinal dystrophy loci are located. A gene expressed in the retina, FAM46A , mapped within the RP25 locus, and computational data revealed its involvement in retinal signalling pathways. Therefore, we chose to perform molecular evaluation of this gene as a good candidate in arRP families linked to the RP25 interval. A comprehensive bioinformatic and retinal tissue expression characterisation of FAM46A was performed, together with mutation screening of seven RP25 families.
Herein we present 4 novel sequence variants, of which one is a novel deletion within a low complexity region close to the initiation codon of FAM46A . Furthermore, we have characterised for the first time a coding tandem variation in the Caucasian population.
This study reports on bioinformatic and moleculardata for the FAM46A gene that may give a wider insight into the putative function of this gene and its pathologic relevance to RP25 and other retinal diseases mapping within the 6q chromosomal interval.     

视网膜色素变性患者视觉电生理观察

目的 探讨视网膜色素变性（ＲＰ）患者的视觉电生理改变。方法 对１１０例２２０只眼视网膜色素变性患者进行Ｐ－ＶＥＰ、Ｆ－ＥＲＧ检查。结果 ＲＰ患者Ｐ１００波潜时与对照组相比明显延长，振幅则明显降低。ｂ波的振幅与病程长短、视力的降低程度、年龄大小有关，统计学处理有非常显著性差异。结论 随着病程延长、年龄的增加、视力的降低，ｂ波呈熄灭型的患者增加，表现视网膜损害程度加重。     

視網膜色素變性97例的眼電圖研究

目的研究視網膜色素變性的超微結構及病理性改變與眼電圖之間的關系.方法采用視覺電生理技術,封97例視網膜色素變性患者進行眼電圖(EOG)檢測,觀察光峰電位等十項指標,并與47名健康者進行比較.結果視網膜色素變性患者的色素上皮層功能明顯損害,97例視網膜色素變性患者的眼電圖檢測表现爲三種類型(①光波明顯降低(低波型)54例,占55.67%;(②光峰暗谷消失(無波型)14例,占14.43%;③暗谷光峰倒轉(倒置型)29例,占29.90%.低波型者提示色素上皮功能輕度損害;無波型者提示色素上皮嚴重受損,倒置波提示錐髓细胞受損較杆细胞爲重,明通應階段锥髓细胞反應低下.結論眼電圖的檢測有助于視網膜色素變性患者的診斷及判斷病程進展情况.