ObjectiveTo identify the pathogenic genes and mutations in a family with Usher syndrome type 2.MethodsA three-generation family including 7 individuals was enrolled in this study. There were 2 male patients and 5 unaffected individuals. All participants was underwent related ophthalmologic examination, including best corrected visual acuity, slit-lamp, indirect ophthalmoscopy, electroretinogram (ERG), optical coherence tomography and visual field test. DNA was extracted from 3 ml peripheral venous blood of all participants. A total of 136 hereditary retinal disease target genes were screened and the DNA sequence was performed by Next-generation sequence analysis. Then the suspected mutations compared with databases to identify the suspected mutations, which should be verified with non-affected family members and 100 normal subjects by PCR and Sanger sequence.ResultsThe sequence result showed that 2 patients, the proband and his brother, carried complex heterozygous mutations in the USH2A gene: c.5459T＞C (p.M1820T) in exon 27, c.802G＞A (p.G268R) in exon 5 and c.1190T＞A (p.I397K) in exon 7. The c.5459T＞C and c.1190T＞A mutations in USH2A have not been reported in the literature and database. Although their mother carried c.5459T＞C (p.M1820T) and c.802G＞A (p.G268R), and their father carried c.1190T＞A (p.I397K) heterozygous mutations, the parents did not present phenotype. These mutations were not detected in other normal family members. The result was supported by co-segregation analysis.ConclusionThe heterozygous mutations c.5459T＞C (p.M1820T), c.1190T＞A (p.I397K) and c.802G＞A (p.G268R) in USH2A gene cause Usher syndrome in this family.
Objective To observe the correlation between the level of advanced glycosylation end products (AGE) in skin and diabetic retinopathy (DR), and establish and preliminatively verify the columbaric model for predicting the risk of DR. MethodsA clinical case-control study. A total of 346 patients with type 2 diabetes mellitus (T2DM) who were admitted to the Department of Endocrinology and Ophthalmology of the First Affiliated Hospital of Zhengzhou University from January 2023 to June 2024 were included in the study. Among them, 198 were males and 148 were females. The age was **. According to whether the patients were accompanied by DR, the patients were divided into the non-DR group (NDR group) and the DR group (DR group), 174 and 172 cases, respectively. All patients underwent skin AGE detection using a noninvasive diabetes detector. Diabetes duration, hemoglobin A1c (HbA1c), fasting plasma glucose, Urea, creatinine (Crea), uric acid, total cholesterol, triglyceride, estimated glomerular filtration rate (eGFR), urinary albumin concentration (UALB), and body mass index (BMI) were collected in detail. Univariate analysis and multivariate logistic regression analysis were used to determine the independent risk factors for T2DM concurrent DR, and to construct a nomogram prediction model for DR risk. Receiver operating characteristic curve (ROC curve), calibration curve and decision curve (DCA) were used to evaluate the model. ResultsHypertension prevalence rate (χ2=3.892), DM duration (Z=－7.708), BMI (Z=－2.627), HbA1c (Z=－4.484), Urea (Z=－4.620), Crea (Z=－3.526), UALB (Z=－6.999), AGE (Z=－8.097) in DR group were significantly higher than those in NDR group, with statistical significance (P＜0.05); eGFR was lower than that in NDR group, the difference was statistically significant (Z=－6.061, P＜0.05). Logistic regression analysis showed that AGE, diabetes course, HbA1c, UALB and eGFR were independent risk factors for DR (P＜0.05). Based on the results of multi-factor regression analysis, a nomogram prediction model was constructed. The area under ROC curve of the model was 0.843, 95% confidence interval was 0.802-0.884, sensitivity and specificity were 79.1% and 75.9%, respectively. The calibration curve was basically consistent with the ideal curve. The results of DCA analysis showed that when the model predicted the risk threshold of patients with DR Between 0.17 and 0.99, the clinical net benefit provided by the nomogram model was＞0. ConclusionsSkin AGE level is an independent risk factor for DR. The nomogram prediction model based on AGE, diabetes duration, HbA1c, eGFR and UALB can accurately predict the risk of DR, and has good clinical practicability.
ObjectiveTo observe the clinical characteristics and treatment prognosis of patients with ocular toxocariasis (OT). MethodsA retrospective clinical trial. From March 2018 to September 2021, 40 eyes of 40 OT patients diagnosed by ophthalmic examination in the First Affiliated Hospital of Zhengzhou University were included in the study. All patients underwent best corrected visual acuity (BCVA) and scanning laser ophthalmoscope (SLO) examination. Color Doppler ultrasound flow imaging (CDFI), fluorescein fundus angiography (FFA) and optical coherence tomography (OCT) were performed in 25, 26 and 26 eyes, respectively. Among the 40 patients, there were 23 males (57.5%, 23/40) and 17 females (42.5%, 17/40). All patients were monocular. Thirty patients (75.0%, 30/40) were younger than 18 years old, with the mean age of (9.60±0.60) years. Ten patients (25.0%, 10/40) were great than or equal to 18 years old, with the mean age of (34.60±4.52) years. Thirty-three patients (82.5%, 33/40) lived in rural areas for a long time. There were 27 patients (67.5%, 27/40) with a history of contact with dogs and cats. In 40 eyes, peripheral granuloma (peripheral type), posterior pole granuloma (posterior pole type), vitreous opacity similar to endophthalmitis (turbid type) and hybrid type were 18(45.0%, 18/40), 11(27.5%, 11/40), 6(15.0%, 6/40) ang 5(12.5%,5/40), respectively. All patients were treated with drugs and/or surgery after definite diagnosis. There were 28 eyes of peripheral type, posterior pole type and hybrid type, 17 eyes were treated with surgery and 11 eyes with drug treatment, respectively. Five eyes with turbid type were only treated with drugs. In 40 patients, 33 patients participated in follow-up. The follow-up time after treatment was (18.78±9.44) months. The improvement of BCVA was observed. The number of eyes with different BCVA before and after treatment was compared by χ2 test or Fisher's test. ResultsAt the first visit, the BCVA ranged from light perception to 0.6, including 20 eyes with BCVA ＜0.1, 13 eyes with BCVA 0.1-0.3, and 7 eyes with BCVA ＞0.3. The posterior vitreous anterior limiting membrane was thickened in 24 eyes (60.0%, 24/40). There were 27 eyes (67.5%, 27/40) with lamellar vitreous opacity and 22 eyes (55.0%, 22/40) with peripheral/posterior pole granulomas. Among 25 eyes examined by CDFI, 14 eyes (56.0%, 14/25) showed characteristic stratified or diffuse opacity in vitreous body. Of the 26 eyes examined by FFA, 15 eyes (57.7%, 15/26) had "fern-like" leakage of retinal capillaries, and the lesion had a patchy non-perfused area. In 26 eyes examined by OCT, epiretinal membrane, cystoid macular edema and vitreoretinal traction were 8 (30.8%, 8/26), 5 (19.2%, 5/26) and 2 (7.7%, 2/26) eyes, respectively. At the last follow-up, compared with before treatment, the BCVA of 5 eyes with turbid type increased, and the difference was statistically significant (P＜0.05). In 28 eyes with peripheral type, posterior pole type and hybrid type, 17 eyes with surgical treatment improved BCVA, and the difference was statistically significant (χ2=6.258, P＜0.05). In 11 eyes only treated with drugs, BCVA remained unchanged, and the difference was not statistically significant (χ2=0.594, P＞0.05). ConclusionsOT patients are mostly children; retinal granulomas, gray-white hyperplastic membrane behind lens or vitreous stratified opacity are specific characteristics. OT is mainly treated by glucocorticoid drugs and vitrectomy.