Objective To observe the efficacy of monotherapy and combination treatments of photodynamic therapy (PDT) and intravitreal anti-vascular endothelial growth factor (VEGF) drugs for advanced exudative age-related macular degeneration (EAMD). Methods Thirty-two eyes from 28 patients with EAMD were enrolled in this study. Fifteen eyes were treated with PDT or intravitreal anti-VEGF drugs (monotherapy group), while 17 eyes were treated with combination treatments of PDT and intravitreal anti-VEGF drugs (combination group). The follow-up was ranged from 5 to 28 months with a mean of 21 months. Vision and intraocular pressure were measured and optical coherence tomography (OCT) was performed every month after treatment. Fundus fluorescein angiography (FFA) and indocyanine green angiography (ICGA) were performed every 3 months during follow-up period. The changes of visual acuity, leakage in macula lutea and central retinal thickness (CRT) before and after treatment, and adverse events during follow-up period were observed. The mean treatment times of monotherapy and combination group were compared and analyzed. Results Among 32 eyes, visual acuity improved in 20 eyes (62.5%), stabilized in 9 eyes (28.1%) and decreased in 3 eyes (9.4%). The leakage in macula lutea disappeared in 17 eyes (53.1%), decreased in 12 eyes (37.5%) and increased in 3 eyes (9.4%). CRT was reduced in 23 eyes (71.8%), increased in 9 eyes (28.2%). The mean treatment times of the combination group (2.3plusmn;0.2) was significantly less than that of monotherapy group (3.4plusmn;0.5)(P＜0.05). No adverse events such as secondary retinal hemorrhage, vitreous hemorrhage or endoophthalmitis were found during the follow-up duration. Conclusions Both monotherapy and combination treatments of PDT and intravitreal anti-VEGF drugs for EAMD may improve visual acuity, exudation and macular edema. Combination of PDT and anti-VEGF therapy decreases the frequency of retreatment.
Objective To investigate the correlation between mutation genotypes and phenotypes of X-linked retinoschisis (XLRS) patients. Methods 33 male XLRS patients, 26 female carriers and 100 normal subjects were enrolled in this study. All 33 XLRS patients were bilateral, which included 18 patients from 8 families and 15 sporadic patients. Among 66 XLRS eyes, there are microcystis-like foveal splitting in 49 eyes (74.2%), lamellar macular splitting in 43 eyes (65.2%), peripheral splitting in 32 eyes (48.5%), retinal detachment in 17 eyes (25.8%), and vitreous hemorrhage in 8 eyes (13.6%). Electroretinogram was performed on 42 eyes which showed decreased amplitude of b-wave. The 6 exons of RS1 gene were amplified by polymerase chain reaction and then directly sequenced.The correlation analysis was performed between mutation genotypes and phenotypes. Results There were 19 RS1 gene mutations including 6 novel mutations (p.Gly70Cys, p.Trp112Arg, p.Arg156Trp, p.His207ProfsX56, p.Arg209AlafsX28, p.Cys223Tyr). There was no correlation between mutation genotypes and phenotypes (chi;2=0.731, 3.438, 0.820, 3.208, 1.992; P＞0.05 ).Conclusions RS1 gene mutation is a major cause of XLRS. The RS1 mutation genotype is not correlated with phenotype, so that the prognosis cannot be predicted by the genotypes.