Objective To compare neovascular age-related macular degeneration (nAMD) and polypoidal choroidal vasculopathy (PCV) in age at diagnosis, gender and disease laterality. Methods One hundred fourteen nAMD patients (114 eyes) and 145 PCV patients (186 eyes) diagnosed by fundus fluorescein angiography (FFA) and indocyanine green angiography were enrolled in this retrospective study. The age at diagnosis, gender and disease laterality of all the patients were collected. Independent sample t-test, chi;2 test and Fisher's exact test were used to compare the age at diagnosis, gender and disease laterality between nAMD and PCV patients. Results The mean age at diagnosis of nAMD group and PCV group were (68.30plusmn;9.86), (65.67plusmn;9.04) years respectively, the difference was statistically significant (t=-2.168, P=0.031). The patients under 70 years old accounts for 50.88% in nAMD group, which is lower than that in PCV group (63.45%), the difference was statistically significant (chi;2 =4.138, P=0.042). The male/female ratio of nAMD group and PCV group were 3.56∶1 and 2.02∶1 respectively, the difference was statistically significant (chi;2 =3.937, P=0.047). Thirty patients (26.32%) and 41 patients (49.46%) were affected unilaterally in nAMD and PCV group, respectively. The difference of bilateral incidence between two groups was not statistically significant (chi;2 =0.123, P=0.726). There were 69 right eyes (47.92%) and 75 left eyes (52.08%) in nAMD group, 92 right eyes (49.46%) and 94 left eyes (50.54%) in PCV group. The difference of disease laterality between two groups was not statistically significant (chi;2 =0.078，P=0.637). Conclusions PCV patients present at younger age than nAMD. nAMD is more prone to affected males than PCV. Nearly a quarter patients are bilateral in nAMD or PCV, there is no difference in bilateral incidence between these two diseases.
ObjectiveTo investigate the relationships between the onset age, genotype, clinical phenotype and the efficacy of Rapamycin in patients with tuberous sclerosis complex.MethodsRetrospectively analyze the clinical data of patients with tuberous sclerosis complex (TSC) who were diagnosed with epilepsy in Guangdong Sanjiu Brain Hospital from October 2013 to December 2018. Meanwhile, the relationships between the onset age of epilepsy and genotype, clinical phenotype and Rapamycin efficacy were analyzed comprehensively.ResultsTSC gene was detected in 104 patients with tuberous sclerosis complex, of which 85 (81.7%) were positive and 44 (51.8%) were males as well as 41 (48.2%) were females, with an average age of (4.0±4.9) years old. And there were 34 (40.0%) TSC1 mutations and 51 (60.0%) TSC2 mutations. The patients were divided into 3 groups according to their ages: ≤1 year old, 1 ~ 6 years old and ≥6 years old. Among them, 31 cases (36.5%) were in the ≤1 year old group, 31 cases (36.5%) in the 1 ~ 6 years old group and 23 cases (27.0%) in the ≥6 years old group. Through statistical analysis, we found that the onset age of epilepsy in patients with TSC1 and TSC2 gene mutations was statistically different (χ2=9.030, P=0.011). Further analysis of the relationship between the onset age of epilepsy and other clinical phenotypes showed that there were statistical differences in the probability of mental retardation and spasm seizure in different onset age groups of epilepsy (P<0.05). In addition, patients with epilepsy onset age ≤1 year old are more likely to have renal disease and patients with epilepsy onset age ≥6 years old are more likely to have SEGAs. There was no significant difference between the onset age of epilepsy and the efficacy of Rapamycin (P>0.05).ConclusionTSC2 mutation, mental retardation and spasm seizure are more likely to occur in patients with epilepsy onset age ≤1 year old. The study on multiple factors of epilepsy onset age may have a certain guiding role in judging the development and prognosis of TSC with epilepsy.