Objective To observe the autofluorescence (AF) manifestation in children with hereditary retinal diseases.Methods The clinical data of 22 children (aged from 5 to 14 years) with hereditary retinal diseases were retrospectively analyzed. There were 8 children (16 eyes) with Best vitelliform macular dystrophy, 3 children (6 eyes) with Stargardt macular dystrophy, 3 children (6 eyes) with macular cone dystrophy, 5 children (10 eyes) with primary retinitis pigmentosa, and 3 children (6 eyes) with Xlinked juvenile retinoschisis. The routine clinical examinations included present history, family history, visual acuity, silt-lamp microscopy, indirect ophthalmoscopy, color fundus photography and fundus autofluorescence angiography (FAF). Some patients received fundus fluorescein angiography (FFA), electroretinogram (ERG), electrooculogram (EOG), and ocular coherence tomography (OCT). The characteristics of AF in all the children were analyzed, and were compared with the images of color fundus and/or FFA. Results Symmetry round macular fluorescent weak or absent area was found in all Stargardt disease and cone dystrophy. Weak AF area with surrounded circular increased AF was found in 2 children (4 eyes) with cone dystrophy and 1 child (2 eyes) with Stargardt macular dystrophy. A central round area with regular or irregular intense AF was observed in Best vitelliform macular dystrophy. RP children showed increased AF out of the macular region. Cellular or granular b AF was found in the fovea of 3 children (5 eyes) with Xlinked juvenile retinoschisis. Conclusion The children with hereditary retinal diseases had special AF changes.
Objective To verify the pattern characteristics of optical coherance tomography (OCT) images in diabetic maculopathy (DM). Methods OCT were performed in sixty cases of DM and 30 cases of normal control group,and in 54 cases of DM,fundus fluorescein angiography (FFA) was performed simutaneously.The results from 2 kinds of examinations were compared each other. Results The average retinal thickness at the central fovea was (314.54plusmn;154.13) mu;m in DM group.The macular edema in the cases of DM accounted to 57.1% on OCT examination. The rate of retinal swelling associated with cystoid macular edema (CME) was 38.5%,with retinal detachment (RD) 9.2%,and with both CME and RD was 16.9%Those with mormal macular thickness and mild macular edema primarily showed focal leakage in FFA exam,while those with moderate and severe macular edema showed diffuse leakage in FFA exam.The rate of CME was 28.6% presented in FFA and 58.9% in OCT examination (t= 3.39,Plt;0.05). Conclusion OCT images of DM reveal 3 kinds of morphological features：retinal welling,CME,and sensory retinals de tachment.OCT is superior to FFA in detecting CME. (Chin J Ocul Fundus Dis, 2001,17:184-186)
Double outlet right ventricle (DORV) is a complex cardiac malformation with many anatomic variations and various approaches for surgical repair. DORV is mainly defined as the congenital heart disease with ventriculoarterial connection in which both pulmonary artery and aorta arising primarily (>50%) from the right ventricle, associated with continuity or discontinuity between the aorta and mitral valve. DORV can be subclassified by various ways. Now subclassification is usually performed according to the relationship between the ventricular septal defect (VSD) and the great arteries. Various approaches for surgical repair of DORV ranging from single ventricle palliation to biventricular repair are reported from many centers. However, the high-grade guideline of surgical management of DORV is still absent. Hence, we developed the Chinese expert consensus on DORV as the evidence for surgical strategies.
目的 探讨胰十二指肠切除术中引流管的放置与术后管理的方法。方法回顾性分析88例胰十二指肠切除术后管理经验。结果 术后腹腔并发症的发生率为10.2%(9/88)，胃排空障碍发生率为3.4(3/88)%，其中保留幽门胰十二指肠切除术后胃排空障碍发生率为5.5%(3/55)。结论 胰十二指肠切除术后腹腔引流是预防术后并发症的重要方法，术中合理放置引流管，术后加强腹腔引流的管理，能减少术后并发症的发生。
ObjectiveTo explore the appropriate method of biventricular repair and analyze the risk factors for reoperation, by summarizing the 15-year treatment experience of biventricular repair for double outlet right ventricle with non-committed ventricular septal defect (DORVncVSD).MethodsClinical data of 162 consecutive patients with DORVncVSD who had biventricular repair from 2005 to 2019 in our center were retrospectively analyzed. The children were divided into two groups according to the path of intracardiac tunnel: 110 patients with ventricular septal defect rerouted to the aorta were recruited into a group A (75 males and 35 females aged 3.6±3.2 years); 52 patients with ventricular septal defect rerouted to the pulmonary artery were into a group B (30 males and 22 females aged 2.8±2.7 years). In order to establish a smooth intracardiac tunnel, enlargement of VSD, the resection of conus muscle and the transfer of tricuspid tendon or papillary muscle, etc were performed at the same time.ResultsIn the patients with biventricular repair, there were 9 (5.6%) early deaths and 6 (3.7%) early intracardiac baffle obstructions. During the follow-up of 7.5±7.0 years, and 8 (4.9%) late deaths occurred. The 1-year, 5-year, 10-year and 15-year survival rates of the group A were 92.7%, 91.1%, 91.1%, 85.4%, respectively and those of the group B were 92.2%, 85.2%, 85.2%, 85.2%, respectively. The difference between the two groups was not statistically significant (P=0.560). The follow-up results showed that 10 (6.2%) patients had late-onset intracardiac tunnel obstruction, and 8 patients underwent reoperation. There were more late-onset intracardiac tunnel obstruction patients and overall intracardiac tunnel obstruction patients in the group A than those in the group B (9 patients vs. 1 patient, P=0.017; 15 patients vs. 1 patient, P=0.001). No significant difference of early mortality and late mortality was noted for the group A (P=0.386) and the group B (P=0.223). Also it was noted that performing tricuspid valve operation at the same time in the group A had a significant impact to reduce the occurrence rate of intracardiac obstruction (1/46 vs. 15/64, P=0.004), without any tricuspid regurgitation or stenosis. The reoperation rate of patients with Rastelli after right ventricular outflow tract lesions was significantly higher than that of REV surgery and double root replacement surgery (5/14 vs. 0/38, P<0.001).ConclusionThe effect of biventricular repair for DORVncVSD is satisfactory. And concomitant tricuspid procedures can help reduce the occurrence of intracardiac obstructions. Reconstruction of right ventricular outflow tract with biological valved conduit is a risk factor for reoperation.
Objective To observe the therapeutic efficacy and complications of plaque radiotherapy (PRT) combined with transpupillary thermotherapy (TTT) on choroidal melanoma (CM). Methods Thirty unilateral CM patients (30 eyes, including 15 males and 15 females) were treated by PRT and TTT. The visual acuity ranged from 0.1 to 0.8 with an average of 0.3plusmn;0.2. The largest base diameter of tumor ranged from 6.8 mm to 17.9 mm with an average of (11.3plusmn;2.8) mm；The tumor height ranged from 3.9 mm to 10.6 mm with an average of (7.2plusmn;2.4) mm. The criteria of controlled local tumor: based on B-scan ultrasound measurement, the tumor was considered as ldquo;growingrdquo; if tumor height increased 2 mm or tumor largest base diameter increased 250 mu;m, otherwise the tumor was considered ldquo;controlledrdquo;. The followup ranged from 15 to 57 months with an average (33.01plusmn;9.81) months. The local tumor control rate, enucleation rate and visual acuity, complications after treatment were observed.Results The tumor largest base diameter after treatment ranged from 4.6 mm to 17.0 mm with an average (9.79plusmn;3.35) mm, which had statistically significant difference（t=2.195，F=0.49；P=0.032) with that before treatment. The tumor height after treatment ranged from 2.7 mm to 11.9 mm with an average (5.19plusmn;2.57) mm, which had statistically significant difference（t=2.069，F=0.018；P=0.0435) with that before treatment. At the end of follow up, the tumor largest diameter and height increased in two eyes respectively compared with those before treatment. Local tumor control rate was 86.7%. Three eyeballs were enucleated after treatment，the enucleation rate was 10.0%. The visual acuity remained unchanged in 12 eyes，improved in one eye and decreased in 17 eyes. Treatment complications included radiation retinopathy in 12 eyes (40.0%), secondary retinal detachment in three eyes (10.0%), secondary glaucoma in one eye (3.3%), cataract in four eyes (13.3%) and dry eye syndrome in five eyes (16.7%). Conclusion PRT combined with TTT is an effective therapy for choroidal melanoma with less complications.
ObjectiveTo report the clinical findings and RS1 gene mutation analysis of a Chinese family with X-linked juvenile retinoschisis (XLRS). MethodsThe pedigree of this XLRS family was studied. Nine individuals (10 eyes of 6 males, 6 eyes of 3 females), including the proband, received ocular examination, fundus photography and optical coherence tomography (OCT). Direct DNA sequencing of the 6 exons of RS1 gene was used to detect the RS1 mutation in 12 family members. ResultsThe present pedigree included 15 members of three generations. Among them, 5 male members were diagnosed with XLRS. The retina of other 4 family members were normal, including 1 male (2 eyes) and 3 females (6 eyes). Visual acuity of these 5 patients ranged from hand movement to 0.5 and both eyes of them were involved. The age when visual acuity begins to decrease was all less than 10 years. Fundus color photographic examination showed macular radial cystoid retinoschisis and retinoschisis of the peripheral retina. OCT images showed retinoschisis in macular regions (8 eyes) or peripheral retina (6 eyes). Genetic testing showed that 1 male had no mutation in RS1 gene (p.Gly109Val). All 5 patients had a point mutation (c.326G>T) at exon 4 of RS1 gene, which cause the 109th amino acid changed from glycine to valine in the RS1 protein. A 3-year-old kid also had this mutation. The 3 females with normal retina had heterozygous mutations of Gly109Val, so they are the mutation carriers. ConclusionThe novel p.Gly109Val mutation is the causing mutation in this Chinese family with X-linked juvenile retinoschisis.
Objective To determine the association of -429T/C and G1704T polymorphisms in the receptor for advanced glycation end products gene with proliferative diabetic retinopathy (PDR). Methods Case-control study. From the Beijing Desheng Diabetic Eye Study cohort of 1467 patients with type 2 diabetes mellitus (T2DM),atotal of 97 patients with PDR and 105 diabetic patients without retinopathy (DWR, duration of diabetes 15 years) were included for this study. Questionnaires were collected and general ophthalmologic examinations were performed. Biochemical analysis was conducted. DNA was extracted from peripheral venous blood. The -429T/C and G1704T single nucleotide polymorphisms were detected by the means of PCR-restrication fragment length polymorphisms. Results The frequency distribution of -429T/C in DWR group was 81.0% in TT, 16.1% in TC, 2.9% in CC. The frequency distribution of -429T/C in PDR group was 77.3% in TT, 20.6% in TC, 2.1% in CC. There was no significant statistical difference between the two groups (χ2=0.40, P > 0.05). Frequency of the -429T/C minor alleleCin the DWR and PDR group were 11.0% and 12.4%, respectively, with no significant statistical difference between the two groups (χ2=0.20，P > 0.05). The frequency distribution of G1704T in DWR group was 66.7% in GG, 29.5% in GT, 3.8% in TT. The frequency distribution of G1704T in PDR group was 78.4% in GG, 21.6% in GT. There was no significant statistical difference between the two groups (χ2=3.44, P > 0.05). Frequency of the G1704T minor alleleTin the DWR and PDR group were 18.6% and 10.8%, respectively, in which significant difference was found within the two groups (χ2=4.79, OR=1.88，95%CI: 1.06 - 3.33, P > 0.05). Conclusions G1704T polymorphism is associated with PDR presence and 1704G allele may increase the risk of PDR.