Objective To observe the gene mutation and clinical phenotype of patients with retinitis pigmentosa (RP) and cone rod dystrophy (CORD). Methods Thirty-seven patients with RP and 6 patients with CORD and 95 family members were enrolled in the study. The patient’s medical history and family history were collected. All the patients and family members received complete ophthalmic examinations to determine the phenotype, including best corrected visual acuity, slit lamp microscope, indirect ophthalmoscopy, color fundus photography, optical coherence tomography, full-field electroretinogram, and fluorescein fundus angiography. DNA was abstracted from patients and family members. Using target region capture sequencing combined with next-generation sequencing to screen the 232 candidate pathogenic mutations. Polymerase chain reaction and direct sequencing were used to confirm the pathogenic pathogenic mutations and Co-segregation is performed among members in the family to determine pathogenic mutation sites. The relationship between genotype and clinical phenotype of RP and CORD was analyzed. Results Of the 37 patients with RP, 13 were from 6 families, including 4 families with autosomal dominant inheritance, 2 families with autosomal recessive inheritance, and 3 in 6 families were detected pathogenic gene mutations. 24 cases were scattered RP. Six patients with CORD were from four families, all of which were autosomal recessive. Of the 43 patients, 21 patients were detected the pathogenic gene mutation, and the positive rate was 48.8%. Among them, 15 patients with RP were detected 10 pathogenic gene mutations including USH2A, RP1, MYO7A, C8orf37, RPGR, SNRNP200, CRX, PRPF31, C2orf71, IMPDH1, and the clinical phenotype included 10 typical RP, 2 cases of RPSP, 3 cases of Usher syndrome type 2 and 6 cases of CORD patients were all detected pathogenic gene mutations, including 2 cases of ABCA4, 2 mutations of RIMS1 gene, 1 case of CLN3 gene mutation, and 1 case of CRB1 and RPGR double gene mutation. Conclusions RP and CORD are clinically diverse in genotype and clinically phenotypically similar. For patients with early RP and CORD, clinical phenotype combined with genetic analysis is required to determine the diagnosis of RP and CORD.
Objective To analyze the risk factors associated with retinal detachment in patients with myopia, and to establish and validate the predictive column-line diagram model. MethodsA cross-sectional clinical study. From January 2020 to November 2021, 90 patients with myopia combined with retinal detachment who were diagnosed by ophthalmologic examination in the People's Hospital of Ningxia Hui Autonomous Region were included in the study (observation group). Ninety myopic patients with age- and gender-matched myopia who underwent ophthalmologic examination for myopia during the same period were selected as the control group. The clinical data of the two groups were analyzed, and the indicators with differences were subjected to univariate and multivariate logistic regression analyses. The results of the regression analyses were visualized by using R software to obtain the column charts, and the accuracy of the column charts was verified by the ROC curves of the subjects' work characteristics; the clinical efficacy of the column chart model was verified by the internal data. ResultsCompared with the control group, patients in the observation group were older, had higher myopic refraction, had more visual fatigue, ocular trauma, and cataracts, had lower choroidal and retinal thickness, and had more history of ophthalmic surgery, and the differences were statistically significant (P＜0.05). The area under the ROC curve (AUC) for age, myopic refraction, retinal thickness, and choroidal thickness were 0.612, 0.613, 0.720, and 0.704, respectively; the optimal cutoff values were 43 years old, －3.5 D, 225 μm, and 144 μm. the ROC values were 0.612, 0.613, 0.720, and 0.704 for age (＞43 years old), myopic refraction (＞－3.5 D), visual fatigue (yes), ocular trauma (yes), cataracts (yes), retinal thickness (≤225 μm), and choroidal thickness (≤144 μm) were the risk factors affecting the development of retinal detachment in myopic patients (P＜0.05). The consistency index of the column chart model for predicting the risk of retinal detachment in patients with myopia was 0.731 (95% confidence interval 0.665-0.824); the risk threshold for predicting the development of retinal detachment in patients was ＞0.07. ConclusionsAge ＞43 years, myopic refraction >－3.5 D, presence of visual fatigue, ocular trauma, cataract, retinal thickness ≤225 μm, choroidal thickness ≤144 μm are the risk factors affecting the development of retinal detachment in myopic patients. The column-line diagram model constructed on the basis of the risk factors has good accuracy.