Cardiovascular disease is a severe threat to human health and life. Among many risk factors of cardiovascular disease, genetic or gene-based ones are drawing more and more attention in recent years. Accumulated evidence has demonstrated that the loss or mutation of ataxia telangiectasia mutated (ATM) gene can result in DNA damage repair dysfunctions, telomere shortening, decreased antioxidant capacity, insulin resistance, increased lipid levels, etc., and thus can promote the occurrence of cardiovascular risk factors, such as aging, atherosclerosis and metabolic syndrome. In this review, we discusses the possible mechanisms between ATM gene and cardiovascular risk factors, which could be helpful to the related research and clinical application.
This study aimed to explore the possible association between single nucleotide polymorphism (SNP) rs189037 C > T in the promoter region of ataxia telangiectasia mutated (ATM) gene and essential hypertension (EH). We performed a case-control study to collect randomly 369 hospitalized patients aged 50 years and above. They were divided into EH group (190 patients) and control group (179 subjects) according to the diagnostic criteria of hypertension. The SNP rs189037 genotyping was performed using polymerase chain reaction-restriction fragment length polymorphism. The genotype frequencies of ATM gene polymorphism rs189037 for the whole sample were 33.9% CC, 48.0% CT, and 18.1% TT. There was no significant difference in the genotype frequency distributions of the SNP rs189037 between EH and control groups (P=0.619). After adjustment of the major confounding factors, the SNP rs189037 was still not associated with EH (P > 0.05). We further analyzed data from different groups divided by genders and age respectively, and the relationship was retained (P > 0.05). In addition, we found that the percentage of the TT genotype was much lower in coronary artery disease (CAD) patients than those in the CC or CT genotype (OR=0.49, 95% CI=0.26~0.90, P=0.021). In conclusion, our study suggests that SNP rs189037 in the promoter of ATM gene is not associated with EH. But it is related to the incidence of CAD, and TT genotype seems to be a protective factor for CAD.
ObjectiveTo study the effects and outcomes of green diode laser therapy under indirect ophthalmoscope in the treatment of juvenile Coats disease. MethodsNineteen juvenile Coats disease patients (19 eyes) well enrolled in this study. Average age at presentation was 73.5 months (27-146 months). Best corrected visual acuity (BCVA) was ≥0.1 in 7 eyes; 0.01 to 0.09 in 8 eyes; counting finger in 3 eyes and light perception in 1 eye. The macular of all eyes was involved. There were 3 eyes with macular exudative retinal detachment, 4 eyes with sub-macular fibrosis, 1 eye with macular atrophy. Exudative area was more than two quadrants in 17 eyes, and less than two quadrants in 2 eyes. The abnormal blood vessels located in the superior or nasal-superior retina (2 eyes) or inferior or temple-inferior area (17 eyes). Exudative retinal detachment occurred in 13 eyes, in which macular was not involved in 10 eyes, and macular was involved in 3 eyes. All patients were treated with green diode laser (532 nm) ablation therapy under general anesthesia and indirect ophthalmoscope to areas of the retina telangiectasia. 3 patients received a single intravitreal 2 mg triamcinolone injection (IVTA). Average follow-up was 18.5 months (6-51 months). Main outcome measures included visual acuity, retinal vascular abnormalities, subretinal exudates and exudative retinal detachment. ResultsAmong 3 patients treated with IVTA, one needed cataract extraction and one needed pre-retinal membrane peeling surgery. After laser photocoagulation, resolution of telangiectasia lesions was achieved in all patients at the end of follow-up. Exudation was resolved in 8 eyes, reduced in 9 patients and no change in 2 eyes. Exudative detachment was resolved in 8/13 eyes, reduced in area in 3/13 eyes and no change in 2 eyes. There were 9 eyes with sub-macular fibrosis and 3 eyes with macular atrophy at the end of follow-up. The visual acuity was stable in most cases. BCVA was ≥0.1 in 6 eyes; 0.01 to 0.09 in 11 eyes; counting finger in 1 eyes and light perception in 1 eye. Compared to the normal eyes, eyes with Coats disease tended to be more hyperopic (t=3.6,P=0.003) and astigmatic (t=3.6, P=0.004), but no correction were needed for these refractive errors. ConclusionsGreen diode laser therapy under indirect ophthalmoscope can be an effective treatment for juvenile Coats disease with little complications. IVTA can be helpful, but must be used with cautions as it can induce some complications.
ObjectiveTo observe the efficacy of intravitreal injection of ranibizumab (IVR) and combined treatment for severe Coats disease. MethodsNineteen Coats disease patients (24 eyes) were enrolled in this retrospective non-comparative interventional clinical study. The patients included 17 males and 2 females. The age was ranged from 1 to 42 years old, with an average of (13.05±6.78) years. The patients included 15 children (age ≤14 years old) and 4 adults (age ≥18 years old). There were 13 patients with 3a stage and 6 patients with 3b stage. The treatment methods including IVR only, IVR combined with cryotherapy, IVR combined with cryotherapy and sclerotomy to drain subretinal fluid, IVR combined with vitrectomy. Treatments were repeated if it was necessary at the first day, the first week and the first month after injection. The interval between treatments was ≥1 month. Eleven patients (57.9%) underwent one treatment, 3 patients (15.8%) underwent 2 treatments, 3 patients (15.8%) underwent 3 treatments, 2 patients (10.5%) underwent 4 treatments. The treatment frequency including 22 times of IVR only, 6 times of IVR combined with cryotherapy, 5 times of IVR combined with cryotherapy and sclerotomy to drain subretinal fluid, 1 time of IVR combined with vitrectomy. The follow-up period was ranged from 6 to 36 months, with an average of (19.11±7.05) months. Visual acuity, retinal reattachment and ocular adverse events were observed. ResultsThree children (15.8%) were failing to test the visual acuity. Visual acuity was improved in 2 patients (10.5%), stable in 13 patients (68.4%) and decreased in 1 patient (5.3%). Three patients (15.8%) achieved totally retinal reattachment after treatment, while 16 patients (84.2%) achieved partially retinal reattachment. One patient had vitreous hemorrhage. One patient had neovascular glaucoma. ConclusionIVR and combined treatment were effective for severe Coats disease.
ObjectiveTo observe the efficacy of adjuvant intravitreal injection of anti-vascular endothelial growth factor (VEGF) therapy for advanced Coats disease. MethodsThis study is a retrospective case series study. Fourteen patients (14 eyes), presenting Coats Stages 3B and 4 (8 and 6 eyes, respectively) were enrolled. All the patients were treated with adjuvant intravitreal anti-VEGF therapy. The intravitreal anti-VEGF injections varied from 1 to 7, with a median injections of 2.14. In 14 eyes, combined therapy was subretinal fluid drainage in 4 eyes, photocoagulation in 2 eyes, vitrectomy in 8 eyes. The follow-up period was ranged from 4 to 36 months, with a median follow-up of 18.8 months. Visual acuity and retinal reattachment were observed in follow up. ResultsAt last follow up, global suvival was 100.0% with no enucleation performed in any patient because of disease progression. Except for 2 children who were unable to cope with the visual acuity test, visual acuity was improved in 2 patients, stable in 8 patients, and decreased in 2 patients. 5 patients (35.7%) achieved in complete retinal reattachment, 3 patients (21.4%) were succeed in partial retinal reattachment, and the remain 6 patients(42.8%) failed in retinal reattachment. Two patients developed cataract after vitrectomy, and no other adverse reaction was observed during follow-up. ConclusionAnti-VEGF therapy combined with classic treatments in advanced Coats disease can keep or impove the visual acuity in most patients by reducing of subretinal exudation.
Idiopathic parafoveal telangiectasis (IPT) is a retinal vascular disease which is characterized by foveal and parafoveal telangiectasia. The main clinical manifestations are retinal telangiectasis, reduced retinal transparency, retinal venular dilatation, yellow exudation, retinal pigment epithelial lesions, retinal hemorrhage, macular atrophy, macular hole or lamellar hole, subretinal neovascularization and retinal detachment. According to the clinical characteristics and features of fluorescein angiography, IPT can be divided into 3 types and 6 subtypes. Laser photocoagulation, photodynamic therapy, and intravitreal injection of glucocorticoid or anti-vascular endothelial growth factor drugs, can reduce the macular edema and neovascularization. However, due to the unclear etiology of IPT, the existing treatment measures are not specific for its etiology. We need to work hard to understand further the clinical features and pathogenesis of IPT and search the targeted treatments based on its pathogenesis mechanism.
Coats disease is a relatively rare and idiopathic disorder characterized by retinal telangiectasia and massive intra-retinal and (or) sub-retinal lipid accumulation, resulting in complications including retinal detachment and neovascular glaucoma. Previous reports have revealed that Coats disease can be associated with other disorders, especially some inherited diseases, such as retinitis pigmentosa (RP) and facioscapulohumeral muscular dystrophy (FSHD). Coats disease associated with other inherited disorders is generally called Coats-like retinopathy, which has some unique features that differs from the classic Coats disease, for example there is no sex and age preference, more bilateral cases, more severe cases and more genetic factors involved. Patients of Coats-like retinopathy with RP and FSHD may have mutations in Crumbs homologue gene 1 and D4Z4 genes.