Familial exudative vitreoretinopathy (FEVR) is a severe inherited vitreoretinal disorder. Recently, mutations in genes encoding frizzled 4 (FZD4), low density lipoprotein receptor-related protein 5 (LRP5), norrie disease protein (NDP), tetraspanin 12 (TSPAN12), zinc fmger protein 408 (ZNF408), kinesin family member 11 (KIF11) have so far been identified to cause FEVR. The former four genes have been shown to participate in the Wnt and Norrin-β-catenin signal pathway, which perform a crucial role for this pathway in ocular and vascular development. The primary clinical feature of FEVR is incomplete retinal vascular development on the temporal side of the peripheral retina, with or without abnormal retinal vascular differentiation. The clinical manifestations of this disease differ greatly among patients, from asymptomatic to complete retinal detachments with blindness. Fundus angiography and genetic screening are the main diagnostic methods for this disease and the early screening is extremely important in the treatment and prognosis. The progress can be controlled by laser treatment at the initial stage. Scleral buckling surgery and vitrectomy can be performed with advanced retinal detachment, but the prognosis is poor. The effect of anti-vascular endothelial growth factor drugs on new blood vessels may play a certain role in its treatment. With the in-depth study of pathogenesis, selective targeted treatment of FEVR pathogenic genes will become a new direction of treatment for some kinds of phenotype. This article reviews the recent advances of FEVR.
Objective lt;brgt;To study the clinical results and safty of photodynamic therapy (PDT) after single and multi-treatments of patients with subfoveal choroidal neovascularization (CNV) caused by wet agerelated macular degeneration (AMD). lt;brgt; lt;brgt;Methods lt;brgt;From July, 2000 to July, 2001, 20 wet AMD patients (31 eyes) 4788 years old (mean 68.2 years old) with best-corrected visual acuity from FC/10 cm to 0.6 diagnosed through optic coherence tomography (OCT), fluorescein angiography (FFA) and indocyanine green angiography (ICGA) were treated with PDT. All cases were assigned to benzoporphyrin derivative mono acid (BPD) (6 mg per square meter of body surface area), administered via intravenous infusion of 30 ml over 10 minutes. Fifteen minutes after the start of the infusion, a laser light at 689 nm (Zeiss company, German) delivered 50 J/cm2 at an intensity of 600 mW/cm2 over 83 seconds on CNV. Visual acuity, photochrome of ocular fundus, OCT, FFA, ICGA were used to evaluate the effects of photodynamic therapy with BPD. Follow-up of these patients was planned 1-2 week and every 3 month after PDT. Once the lesion area progressed, PDT was applied again. Tweenty cases (31 eyes) were followed up from 3 to 18 months (average 12 month).In 1 affected eye, PDT was applied fow 4 times, 4 eye for 2 times, and the other 26 eyes for 1 time. lt;brgt;Results lt;brgt;The visual acuity in 13 (41.9%) eyes was improved (increase≥2 lines) after PDT. Stabilized (±1 line) in 17 (54.8%) eyes and decreased 2 lines（attributed to the recur of CNV ）in 1 (3.2%) eye. After PDT, the fundus haemorrhage and fluid leakage reduced. FFA and ICGA showed. cessation and obvious reduction of fluorescein leakage from CNV in all patients 2 weeks after photodynamic therapy, and retreatment decreased the leakage step by step. Fluorescein leakage from at least a portion of the CNV reappeared by 1-3 month after treatment in some cases. OCT also showed the reduction of the size of CNV, moreover, the edema of surrounding retina and choriodal and serous neural epithelial detachment recovered obviously. No side affect during and after PDT was noticed. lt;brgt;Conclusions lt;brgt;PDT with BPD can achieve short-term effect on part or total cessation of fluorescein leakage from CNV without loss of vision or growth of classic CNV in patients with age-related macular degeneration, retreatment of PDT was also effective. lt;brgt; lt;brgt;(Chin J Ocul Fundus Dis, 2002, 18: 175-179)
Objective To investigate the genotype and phenotype in patients with leber congenital amaurosis (LCA), and offer accurate genetic counseling and prenatal diagnosis for those families. Methods Three LCA patients and their parents were recruited for this study and received detailed collection of medical history and family history from March to August 2016. The three patients received fundus fluorescein angiography examination and their parents received slit-lamp microscope and indirect ophthalmoscopy examinations. DNA was extracted from the patients and their family members. Whole-exome sequencing method was used for genetic diagnosis and typing of the three LCA patients and their parents. Results The three patients with different clinical features had a definite clinical diagnosis of LCA. Patient 1 showed pale disc, attenuated vessels aroud the optic disc and the salt-and-pepper appearance of the retina, had the homozygous c.744.745insT (p.249, L>Ffs4) mutation inSPATA7. Patient 2 showed optic disc pallor and attenuated retinal vessels, had the heterozygous c.535G>A, p.A179T mutation inWFS1. Patient 3 showed pale disc, atrophic macular and retinal and choroidal degeneration, had the heterozygous mutation in CRB1, RPGRIP1, SPATA7. Conclusion LCA has characteristics of genetic heterogeneity and clinical and phenotypic diversity.
Objectives To discuss the methodology of evaluation of traditional Chinese medicine (TCM) placebo simulation effects and the problems of blind implementation and so as to improve the quality of double-blind clinical trials of TCM. Methods Focusing on case of placebo preparation of TCM investigational new drug, simulation effects of the placebo were evaluated in terms of shape, color, taste and smell. The possibility of placebo be a drug and the similarity between placebo and drug were tested. Results There was no significant difference between placebo and investigational new drug to be judged as a drug (P>0.05). As for the similarity between placebo and drug, there was no significantly difference of the shape (P>0.05), for which the similarity was 100%. The color, taste and smell were significant different between placebo and drug (P<0.05), for which the similarity were 50%, 10% and 15% respectively. Conclusions It is very difficult to simulate TCM based on its certain color, taste or smell. Therefore, the subjects and the investigators’ compliance should be kept to avoid breaking the blind intentionally in the process of the trial and the influence of unblinding should be estimated at the end of the trial.
Adverse drug reactions (ADR) are one important type of safety data for investigational products and post-market drugs. Standardized coding is beneficial to normative ADR analysis and reporting. However, terms peculiar to traditional Chinese medicine (TCM) are not included in the widely used international adverse reaction terminologies. This paper briefly introduced the differences of World Health Organization adverse reaction terminology (WHOART) and medical dictionary for regulatory activities (MedDRA) which was developed by the International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH). Based on the existing development of TCM terminologies for coding ADRs, basic path for developing internationally recognized TCM terminologies was proposed in this paper.