ObjectiveTo identify mutations in NDP, FZD4, LRP5, TSPAN12 in Chinese families with familial exudative vitreoretinopathy (FEVR) and observe the clinical features.MethodsRetrospective case series study. The 9 patients (18 eyes) and 5 normal members from 4 unrelated families were included in the study. The patients medical history and family history were collected in detail. All patients underwent best corrected visual acuity (BCVA), slit-lamp biomicroscopy, fundus colorized photography, fundus fluorescein angiography (FFA). Genomic DNA were collected from all the patients. Mutations were detected by directly sequencing to the whole coding region and exon-intron boundaries of NDP, FZD4, LRP5 and TSPAN12 gene. Polyphen and SIFT programs were used to predict the effects on the structure and functional properties of mutant protein.ResultsThere were two affected individuals in the family 2 carried LRP5 gene mutation [c.1330C＞T (p.R444C )] in exon 6 by sequence analysis. A score of 0.882 was acquired by Polyphen program analysis. And the missense change was predicted to be pathogenic by SIFT. Fundus changes of the proband showed angioplasia, tortuosity of peripheral vessels. And temporal dragging of the optic disc, peripheral avascular zone, neovascularization were found in FFA. Brush-like and straight of peripheral vessels were found in Ⅰ1. No variant was found in NDP, FZD4 and TSPAN12 gene.ConclusionOur study supports the gene mutation c.1330C＞T (p.R444C) of LRP5 is pathogenesis of FEVR. Patients with the same mutation could have variable phenotypic characteristics.
ObjectiveTo investigate the incidence and risk factors of retinopathy of prematurity (ROP) in extremely preterm infants (EPI) before 28 weeks of gestation during 8-years period.MethodsA retrospective study. From January 1, 2011 to December 31, 2018, 300 EPI infants with a gestational age of less than 28 weeks admitted to the neonatal intensive care unit (NICU) of Tianjin Central Hospital of Gynecology Obstetrics were included in the study. EPI birth gestational week (GA), birth weight (BW), gender and other basic information, as well as neonatal respiratory distress syndrome, oxygen (≥10 d), bronchopulmonary dysplasia (BPD) and other hospitalizations and complications were recorded. According to ROP international classification standards, ROP was staged. Severe ROP was defined as ROP that requires treatment. The screening start time, screening interval, and intervention time of all children tested were carried out in accordance with the requirements of the “Guidelines for Screening Retinopathy of Prematurity” until the end of follow-up. The most severe ROP during the follow-up of each examined child was recorded as the final screening result of the examined child, and those with asymmetric eyes with the screening results of the severe side of the diseas was recorded. A retrospective analysis of the overall incidence of EPI ROP showed the incidence of severe ROP, and the first and second stages of EPI ROP during the 8 years (from January 1, 2011 to December 31, 2014, and January 1, 2015 to December 31, 2018), changes in the rate of severe illness. Logistic regression analysis was used to screen independent risk factors for severe ROP.ResultsAmong 300 EPI infants, the average GA was (26.7±1.8) weeks; the average BW was (993.3±178.7) g. Two hundred and five infants (68.3%) were diagnosed with ROP, 116 (56.6%), 57 (27.8%), and 32 (15.6%) infants of stage Ⅰ, Ⅱ, and Ⅲ disease, respectively. There were no infants of stage IV and V. There were 30 infants (14.6%) with additional lesions and 59 infants (19.7%) with severe ROP requiring treatment. With the increase of GA (χ2=52.391, 44.521; P=0.000, 0.000) and BW (χ2=43.772, 26.138; P=0.000, 0.000), the incidence of EPI ROP and the incidence of severe ROP decreased significantly. From 2011 to 2018, the number of people surviving EPI obviously increased, especially those with small GA (26 weeks) and low BW (750 g). The average GA of the second stage EPI was lower than that of the first stage, the difference was statistically significant (t=2.243, P=0.026); the average BW of the second stage EPI was lower than the first stage, the difference was not statistically significant (t=1.428, P=0.154). The incidence of ROP in the second stage EPI was slightly higher than that in the first stage, and the incidence of severe ROP was lower than that in the first stage, the difference was not statistically significant (χ2=1.069, 1.723; P=0.301, 0.189). Multivariate logistic regression analysis showed that GA＜27 weeks (β=－2.584, P=0.032), maternal chorioamnionitis (CA) (β=－0.935, P=0.038) and BPD (β=－1.432, P=0.001) was an independent risk factor for severe ROP.ConclusionsThe incidence of EPI ROP and severe ROP are 68.3% and 19.7%, respectively. From 2011 to 2018, the number of survivors of EPI obviously increase, and those with small GA and low BW increase significantly; however, the incidence of ROP and severe ROP remaine stable. GA, CA and BPD are independent risk factors for severe ROP.
Objective To observe the multimodal imaging features and explore the treatment of parafoveal exudative vascular anomaly complex (PEVAC). Methods A retrospective study. Six patients (6 eyes) with PEVAC diagnosed in Tianjin Eye Hospital were included in this study from July 2018 to December 2021. All patients were female with monocular disease. The age was (61.1±9.3) years. All patients showed a sudden painless decline in monocular vision with metamorphopsia. All patients underwent best corrected visual acuity (BCVA), color fundus photography, fundus fluorescein angiography (FFA), optical coherence tomography (OCT) and OCT angiography (OCTA). Indocyanine green angiography (ICGA) was performed in 4 eyes. In 6 eyes, 3 eyes were treated with intravitreal injection of anti-vascular endothelial growth factor drug; 5 eyes were treated with micropulse laser photocoagulation and/or local thermal laser photocoagulation; 1 eye was treated with photodynamic therapy. Five patients were followed up for (9.2±7.4) months, and 1 patient was lost. At follow-up, the same equipment and methods were used as at the initial diagnosis. The clinical manifestations, multimodal image features and treatment response were observed. Results Baseline BCVA of affected eyes were ranged from 0.1 to 0.5. PEVAC was isolated in 6 eyes, and the fundus showed isolated hemangioma-like leision, accompanied by small bleeding and hard exudation. There were 2 isolated hemangiomatous lesions adjacent to each other in 2 eyes. In the early stage of FFA, punctate high fluorescence lesions near the macular fovea were seen, and the leakage was enhanced in the late stage. There was no leakage in the early stage of ICGA, or slight leakage with late scouring. OCT showed an oval lesion with high reflection wall and uneven low reflection. The central macular thickness (CMT) was (431±76) μm. OCTA showed blood flow signals in PEVAC, 2 eyes in the superficial capillary plexus (SCP), and it was also observed in the deep capillary plexus (DCP), but the intensity of blood flow signal was slightly weaker than that in the SCP. The blood flow signal was visible only in DCP in 2 eyes. SCP and DCP showed similar intensity of blood flow signals in 2 eyes. After treatment, the bleeding was absorbed basically in 4 eyes, the hard exudation partially subsided, the CMT decreased, the intercortical cystic cavity of the fovea nerve decreased, the hemangiomatous lesions narrowed, and BCVA increased. In 1 eye, the macular sac was reduced and partially absorbed by hard exudation, which was later relapsed due to blood pressure fluctuation.ConclusionsThe majority of PEVAC patients had monocular onset. The fundus is characterized by solitary or structure with strong reflex walls, with or without retinal cysts, hard exudates, and subretinal fluid, and visible blood flow signals inside.