Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Patients with IRD may have their clinical diagnosis confirmed by genetic testing. Over the past 30 years, rapid advances in molecular genetics have raised the disease-causing gene variant detection rate and the accuracy of genetic testing, which provide hope to patients. The genetic diagnosis of patients with IRD is complicated due to the overlapping clinical phenotypes, and the fact that different variants lead to different phenotypes and severity even of the same gene. It is very important to overall evaluate the clinical phenotype of patients, precisely select genetic testing methods, and reasonably define disease-causing genes and variants during genetic diagnosis, which can guide the patient's subsequent treatment and provide genetic counseling.
Inherited retinal diseases (IRD) are a group of genetic disorders with high genetic and clinical heterogeneity. Genetic diagnosis has become one essential method for patients with IRD in their clinical management. So far, about 30% of the patients with IRD cannot get molecular diagnosis (no pathogenic variant detected or only mono-allele variant identified in AR genes) using target or whole exome sequencing. Most missing heritability or variants for these patients were variants located in no-coding regions (deep intron or promoter regions) and structure variants of the known IRD genes. It is more challenge to reveal this kind of missing variants, which need using whole genome sequencing combined with other cellular or molecular assays.
ObjectiveTo observe the clinical characteristics of primary retinitis pigmentosa (RP) complicated with glaucoma.MethodsA retrospective clinical study. From June 2008 to March 2020, the diagnosis of primary RP were included in the diagnosis confirmed by the eye examination of West China Hospital of Sichuan University included 4794 eyes of 2432 patients. Among them, 4679 eyes (97.2%, 2364/2432) were in 2364 cases with RP alone, and 115 eyes were in 68 cases with RP combined with glaucoma (2.80%, 68/2432). All affected eyes underwent best corrected visual acuity (BCVA) and intraocular pressure examination. The BCVA examination was carried out using the international standard visual acuity chart, which was converted into the logarithmic minimum angle of resolution (logMAR) visual acuity during statistics. The 67 eyes of 40 patients with RP and glaucoma with complete follow-up data were analyzed to observe the proportion of different glaucoma types, logMAR BCVA, intraocular pressure and other clinical characteristics, as well as treatment methods and post-treatment intraocular pressure control. After treatment, the intraocular pressure ≤21 mm Hg (1 mm Hg=0.133 kPa) was regarded as intraocular pressure (IOP) control; ＞21 mm Hg was regarded as uncontrolled IOP.ResultsAmong the 67 eyes of 40 cases with complete follow-up data, 5 cases (7 eyes) with primary open-angle glaucoma (10.45%, 7/67), 56 cases (58 eyes) with angle-closure glaucoma (ACG) (86.57%, 58/67), 4 cases (4 eyes) with neovascular glaucoma (5.97%, 4/67), 2 of them had both ACG and neovascular glaucoma. Among 58 ACG eyes, 17 eyes were acute ACG (25.37%, 17/67), 21 eyes were chronic ACG (31.34%, 21/67), and 2 eyes were suspicious angle closure (2.99%, 2/67), lens dislocation secondary to angle-closure glaucoma in 8 eyes (11.94%, 8/67), chronic angle-closure glaucoma after anti-glaucoma surgery, intraocular lens shift in 5 eyes (7.46%, 5/67), 5 eyes (7.46%, 5/67) secondary to glaucoma with true small eyeballs. The logMAR BCVA 3.50 of the affected eye,＜3.50-＞2.00, ≤2.00-≥1.30,＜1.30-＞1.00, ≤1.00-0.52,＜0.52 were 9 (13.43%, 9/67), 30 (44.78%, 30/ 67), 7 (10.45%, 7/67), 4 (5.97%, 4/67), 11 (16.42%, 11/67), 6 (8.96%, 6/67) eyes, which correspond to mean intraocular pressure were 32.31±11.67, 30.15±14.85, 28.17±13.19, 31.50±17.25, 18.71±8.85, 14.12±4.25 mm Hg. Among 67 eyes, 37eyes (55.22%, 37/67), 18eyes (26.86%, 18/67), and 6 (8.96%, 6/67) eyes underwent surgery, medication alone, and peripheral iris laser perforation treatment, respectively. The treatment of 6 eyes was abandoned (8.96%, 6/67). Malignant glaucoma occurred in 3 eyes (8.11%, 3/37) after the operation, all of which were after trabeculectomy of the ACG eye. After treatment, intraocular pressure was controlled in 37 eyes (55.22%, 37/67), 19 eyes were not controlled (28.36%, 19/67), and 11 eyes were lost to follow-up (16.42%, 11/67).ConclusionsThe incidence of glaucoma in patients with primary RP is 2.80%. ACG is more common, and the combined lens dislocation or intraocular lens shift is more common.
ObjectiveTo observe the thickness distribution of retina outer nuclear layer (ONL) by directional optical coherence tomography (D-OCT), and analyze variation of ONL thickness with age, gender and anatomical location.MethodsCross sectional observational study. From August 2017 to January 2019, the patients were included who had no abnormal eyes in Beijing Tongren Hospital, and healthy volunteers were included in the study. Cirrus HD-OCT 5-line single line scanning mode was used to scan the macular area horizontally and vertically. The pupil diameter of all the tested eyes was more than 6 mm. The protocol was approved by The Medical College of Wisconsin Institutional Review Board. The detection light was incident on the temporal, nasal, upper and lower sides about 1.5 to 2.0 mm away from the pupil center to obtain an image that was oblique and clearly showed the Henle fiber layer (HFL). The upper and lower bounds of HFL and external limiting membrane (ELM) were manually labeled. The thickness of ONL and HFL+ONL were measured and recorded at 150 μm intervals on the horizontal and vertical radial lines with the fovea as the midpoint. The thickness of ONL in different anatomic location, ages and genders were compared. The influence of age and gender on ONL were analyzed by one-way ANOVA and independent sample t test respectively.Results67 eyes of 67 subjects were enrolled. Among them, the mean age of 27 males (27 eyes) and 40 females (40 eyes) was 38.48±15.33 and 40.98±17.78 years respectively without significantly statistical difference (t=－0.582, P=0.562). The total mean age was 39.97±16.98 years old. There were 11, 22, 22 and 12 patients aged less than 20, 20-39, 40-59 and over 60 years old respectively, according which they were divided into A, B, C and D groups. According to the anatomical location, the thickness of the ONL reached a maximum in the foveola, and then decreased as the eccentricity increased. Horizontally, ONL/ONL+HFL reached the minimum as 36.1% at 0.90 mm on the nasal side, while the minimum was 38.3% at 0.75 mm on the temporal side. Vertically, ONL/ONL+HFL reached the minimum as 36.2% at 0.75 mm inferiorly and 35.6% at 0.9 mm superiorly. There was no significant difference in the ONL thickness of fovea between group A, B,C and D (P＞0.05), however, a significant difference was among the four groups in the parafoveal and the perifovea (P＜0.05). The ONL thickness of the male was larger than that of the female, and the differences between them in parafoveal and perifovea showed statistically significant (P＜0.05).ConclusionsNormal people had the thickest ONL in the fovea. While the location is farther from the fovea, the ONL is thinner. The thickness of ONL in parafovea and perifovea is gradually thin with incerase of age. The thickness of ONL in the male is thicker than that in the female.
【摘要】 目的 了解北京地区400例新型甲型H1N1流感患者的流行病学和临床特征，总结规律，进一步指导临床诊治。 方法 2009年5-12月期间，收治400例甲型H1N1流感确诊病例，主要采用描述性流行病学方法对患者资料进行回顾性分析，并运用单因素方差分析的方法对结果进行检验。 结果 患者以青年和儿童人群为主，47.0%的患者有明确甲型H1N1流感接触史，主要症状包括发热（98.8%）、咳嗽（85.8%）、咽痛（58.5%）。咽部充血（94.0%）和扁桃体肿大（49.5%）为主要体征。外周血白细胞正常或偏低，349例（82.3%）患者血清铁降低，268例（72.6%）患者C反应蛋白升高。在发病后不同时间内给予奥司他韦治疗的患者发热持续时间和咽拭子的阴转时间有显著差异（Plt;0.001）。 结论 新型甲型H1N1流感发病多以青年和儿童人群为主，以流感样症状为主，多数症状轻微，预后良好，C反应蛋白和血清铁的变化可能对于早期诊断有指导价值，奥司他韦早期抗病毒治疗可以缩短病程。【Abstract】 Objective To investigate the clinical and epidemiologic characteristics of pandemic influenza A (H1N1) virus infection in Beijing. Methods The epidemiological information and clinical characteristics of 400 patients with pandemic influenza A (H1N1) virus infection hospitalized in Beijing 302 Hospital from May to December, 2009 were analyzed retrospectively by descriptive epidemiology. One-way ANOVA was used to assess the results. Results H1N1 virus infection preferentially affected adolescents and young adults. The mean age of the patients was 23 years. A total of 189 (47.0%) of the patients had an identifiable epidemiologic link to another confirmed patient. The most common symptoms were fever (98.8%), cough (85.8%) and sore throat (58.5%). The main physical signs were pharyngeal portion congestion (94.0%) and antiadoncus (49.5%). The number of leukocytes in the peripheral blood was normal or low. The decreased serum iron and elevated C-reaction protein were found in 82.3% and 72.6% of the patients. There was significant difference in the duration of fever and viral shedding from throat swabs among the patients who accept the antiviral medication within the different time. Conclusion H1N1 virus infection preferentially affects adolescents and young adults, and presents with influenza-like illness. The clinical course of H1N1 virus infection is generally mild. The change of C-reaction protein and serum iron may be favorable for the diagnosis of H1N1. Early antiviral treatment may shorten the duration of fever and viral shedding.