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.
Objective To observe the choroidal blood flow and morphological changes in patients with severe stenosis of internal carotid artery stenosis (ICAS). Methods A retrospective case-control study. Forty-six patients (46 eyes) with ICAS were enrolled in this study. There was severe stenosis in one side (the eyes in this side were set as case group) and mild or no stenosis in other side (the eyes in this side were set as control group). Color doppler ultrasound (CDI) was used to observe the changes of hemodynamic parameters of the ophthalmic artery (OA) and posterior ciliary artery (PCA), the main parameters of ultrasound Doppler imaging are peak systolic velocity (PSV), end diastolic velocity (EDV), resistance indices (RI) and the calculation of the pulsation indices (PI) through the use of a formula. Enhanced binarization of deep imaging coherence tomography (EDI-OCT) was used to measure the subfoveal choroidal thickness (SFCT). The total subfoveal choroidal area (TCA), luminal (LA), stromal (SA) and choroidal vascularity index (CVI) were obtained by modified image binarization technique. Results In the case group, the PSV in the OA and PCA was significantly lower than that of the control group (t=−2.200, −2.612; P=0.030, 0.011). There were no significant differences in EDV, RI, PI of OA (t=0.337, −1.810, −1.848; P=0.737, 0.074, 0.068) and PCA (t=−1.160, 1.400, 0.815; P=0.249, 0.165, 0.417). The SFCT (t=−3.711, P＜0.001), TCA (t=−2.736, P=0.007), LA (t=−3.188, P=0.002) and CVI (t=−2.096, P=0.039) of the case group was significantly lower than that of the control group. There were no significant differences in SA (t=−1.262, P=0.210) and LA/SA (t=−1.696, P=0.093). Conclusion In severe stenosis ICAS eyes, the PSV in the PCA and SFCT, TCA, LA, CVI are decreased.
Objective To observe and analyze the ocular clinical features and pathogenic genes of Alström syndrome (ALMS). MethodsA retrospective clinical study. From October 2020 to July 2022, 3 patients and 5 normal family members from 2 families affected with ALMS who visited in the Ophthalmology Department of Henan Children's Hospital were enrolled in the study. These 2 families were without blood relationship. The medical history and family history were inquired. Best corrected visual acuity (BCVA), fundus color photography, full-field electroretinogram (ERG), frequency domain optical coherence tomography (OCT) and systemic examination were performed. 3 ml peripheral venous blood of patients and their family members were collected, and the whole genomic DNA was extracted. The second generation sequencing analysis was performed on these members. The suspected pathogenic mutation sites were verified by Sanger, and the pathogenicity of the gene mutation sites were determined by bioinformatics analysis. ResultsThree patients from two families all developed nystagmus and photophobia in infancy. In the family 1, the BCVA of both eyes of the proband was no light perception. The fundus examination revealed vascular attenuation and retinal pigment abnormality. OCT showed retinal thinning, loss of photoreceptor layer and atrophy of the retinal pigment epithelium layer. ERG examination showed extinguished. The BCVA of the proband’s younger brother was 0.04 in the right eye and 0.02 in the left eye. The fundus examination revealed vascular attenuation but the pigment distribution was roughly normal. OCT showed blurred photoreceptor layers in both eyes. ERG examination showed extinguished. Two patients developed sensorineural deafness, obesity, acanthosis nigricans, insulin resistance/diabetes, and abnormal liver function. In addition, the proband also had left heart enlargement, hyperlipidemia and abnormal kidney function. The results of genetic testing showed that the proband and his younger brother had compound heterozygous mutations in exon 8 (c.1894C＞T/p.Gln632*, M1) and exon 10 (c.9148_9149delCT/p.Leu 3050 Leufs*9, M2) of ALMS1, which were both known mutations. The father of the proband was a carrier of M1 and the mother of the proband was a carrier of M2. The proband of the family 2 had a normal fundus at 23 months old. The amplitude of ERG b wave under the stimulation of the dark adaptation 0.01 and a, b wave under the stimulation of dark adaptation 0.3 were all mild reduced. The amplitude of ERG a, b wave under the stimulation of the light adaptation 0.3 was severity decreased. At 4 years old, the BCVA was 0.01 in the right eye and 0.05 in the left eye. The fundus examination revealed vascular attenuation and bilateral blunted foveal reflex. In addition to severely diminished of a, b wave under the stimulation of dark adaptation 0.3, the rest showed extinguished. There were no systemic abnormalities. The results of genetic testing showed that the proband had compound heterozygous mutations in exon 11 (c.9627delT/p.Pro3210Glnfs*22, M3) and exon 5 (c.1089delT/p.Asp364Ilefs*13, M4) of ALMS1, which were both novel mutations. The father of the proband was a carrier of M3 and the mother of the proband was a carrier of M4. ConclusionsNystagmus and photophobia are often the first clinical manifestations of ALMS. In the early stage, the fundus can be basically normal. As the disease progresses, the fundus examination reveals vascular attenuation and retinal pigment abnormality, and the reflection of the fovea is unclear. OCT shows the photoreceptor cell layers are blurred or even lost. The final ERG is extinguished. M1, M2, and M3, M4 compound heterozygous mutations may be the pathogeny for family 1 and family 2, respectively.