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)
Objective To compare the characteristics of the ocular fundus of exudative age-related macular degeneration (AMD) with polypoidal choroidal vasculopathy (PCV). Methods The photographs of ocular fundus of 123 patients (137 eyes) with exudative AMD and 42 patients (48 eyes) with PCV diagnosed by fundus photography, fundus fluorescein angiography (FFA), and indocyanine green angiography (ICGA) were retrospectively analyzed. Results In 137 eyes with exudative AMD, 16 eyes (11.7%) had classic neovascularization (CNV), 121 (88.3%) had occult CNV. In the eyes with occult CNV, 42 eyes (34.7%) had hot spots, 74 eyes (61.2%) showed plaque hyperfluorescences and 2 eyes (1.7%) had hot spots with PCV in ICGA. In 48 eyes with PCV, 7 eyes (14.6%) had subretinal reddish-orange lesions, 2 eyes (4.2%) of the polypoidal dilations with branching vascular network were detected with FFA, 36 eyes (75.0%) demonstrated polypoidal dilations with branching vascular network, and 12 eyes (25.0%) showed scattered polypoidal dilations without identifiable continuous branching vascular network, 16 eyes (33.3%) had the polypoidal dilations resembling a cluster of grapes, and 32 eyes (66.3%) showed the polypoidal dilations as several solitary round aneurismal dilations. The polypoidal dilations showed either a washout of the dye from the polyp with staining of its walls or staining of the dye in the late phase of ICGA. Conclusions The different features of exudative AMD and PCV in the ICGA, and the PCV with subretinal reddish-orange lesions are useful in the differentiate diagnosis of the both diseases. (Chin J Ocul Fundus Dis，2004，20：307-309)
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.