Objective To observe the mutation frequency and the characteristics of rentinitis pigmentosa (RP)1 gene in the Chinese patients with autosomal dominant (AD) RP or sporadic RP (SRP), and to evaluate their potential effects on the pathogenesis of RP. Methods Fifty-five members from 7 Chinese families with ADRP, 30 patients with SRP, and 75 healthy adults were recruited. Polymerase chain reaction (PCR) and direct DNA sequencing were used to detect the sequence mutation in the entire coding region and splice sites of RP1 gene. Univariate analysis and multivariate analysis were used to detect the effect of RP1 gene mutation sites on RP. Results Four coding sequence variants were detected in the codes of 852，872，921 and 939 at the exon 4 of RP1 gene. The R872H alteration, which was found in both ADRP families and patients with SRP, showed positive correlation with RP confirmed by the multivariate logistic regression analysis. The P903L alteration was only found in ADRP families but not in the patients with SRP or the healthy adults. Conclusions The R872H alteration in the RP1 gene is likely to increase the risk of RP, and may be a susceptible gene of RP. Whether the P903L alteration is a diseasecausing factor needs to be further studied.
Objective To evaluate the variability of four parameters of multi-focal electroretinogram (mERG) a-wave amplitude, b-wave amplitude, awave latent period, b-wave latent period. Methods Sixty normal eyes of 46 volunteers were divided into 3 groups of different ages. RETIscan 3-12 system was used to carry out mERG examination. The stimulus matrix of 61 hexagonal elements spanning the central 24deg;of the visual field. These hexons were scaled with eccentricity and divide d into 5 rings. First-order kernel was selected. Results The variability of four parameters of mERG was great. The variability of b-wave latent period was the smallest, its coefficient of variatian was 4.52%～15.62%；that of a-wave latent period held the second place:10.29%~48.67%；that of b-wave amplitude was greater:25.92%~76.11%；that of a-wave amplitude was the greatest:43.82%~88.23%. The results of three groups showed that b-wave amplitude of ring 1 had the smallest variability. Conclusions The variability of latent period is smaller than that of amplitude; the variability of b-wave was smaller than that of a-wave. The longer the centrifugal distance, the lower the amplitude density of a-wave and b-wave. Physiological and anatomical factors might be important for the variability of parameters of multi-focal electroretinogram. (Chin J Ocul Fundus Dis, 2001,17:277-279)
Retinal degeneration mainly include age-related macular degeneration, retinitispigmentosa and Stargardt’s disease. Although its expression is slightly different, its pathogenesis is photoreceptor cells and/or retinal pigment epithelial (RPE) cel1 damage or degeneration. Because of the 1ack of self-repairing and renewal of retinal photoreceptor cells and RPE cells, cell replacement therapy is one of the most effective methods for treating such diseases.The stem cells currently used for the treatment of retinal degeneration include embryonicstem cells (ESC) and various adult stem cells, such as retinal stem cells (RSC), induced pluripotent stem cells (iPSC). and mesenchyma1 stem cells (MSC). Understanding the currentbasic and clinical application progress of ESC, iPSC, RSC, MSC can provide a new idea for the treatment of retinal degeneration.
Purpose To investigate the expression of the interleukin-6(IL-6)and tumor necrosis factor alpha(TNF-alpha;) in epiretinal membranes(ERM) of eyes with proliferative vitreoretinopathy(PVR). Methods Nineteen epiretinal membranes were obtained form eyes undergoing vitrectomy for retinal detachment complicated with PVR and observed by immunohistochemical methods. Results Expression of IL-6 and TNF-alpha; were observed in 12 and 15 membranes respectively with positive staining mostly in extracellular matrix of epiretinal membranes.Only one membrane showed positive to IL-6 intracellularly,and expression for IL-6 and TNF-alpha; simultaneously in membranes. Conclusion The findings indicate that IL-6、and TNF-alpha;might be involved in the development of PVR. (Chin J Ocul Fundus Dis,1998,14:219-221)
Abstract:Five eyes of acute retinal necrosis(ARN)with multiple retinal breaks and retinal detachment were treated by closed vetrectomy combined with encircling buckle,gas/fluid exchange,nolaser and cryotherapy.After operation,the detached retinas reattached in 4eyes,and among them th visual acuity was 0.2 in 1 eye,and better than 0.05 in 3 eyes.The follow-up duration in 5 eyes was from 6 to18 months and recurrent retinal detachment was found in one eys. （Chin J Ocul Fundus Dis,1996,12: 20-21)