ObjectiveTo observe and investigate the related factors that might affect clinical features of familial exudative vitreoretinopaty (FEVR) patients. MethodsA retrospective chart study. From January 2012 and December 2021, 42 patients with 84 eyes with a diagnosis of FEVR from Department of Ophthalmology, Peking University People's Hospital were included in the study. The patients came from 42 separate families. There were 31 males and 11 females, with an average age of first diagnosis was 16.6±33.7 months. There were 21 patients referred from other hospitals for the fundus disease found in eye screening after birth, 21 patients were first seen in our hospital. There were 4 and 38 premature and full-term infants, respectively. Two patients with a positive family history of FEVR. All patients are FEVR stages 1-5. The wide-angle digital pediatric retinal imaging system after general anesthesia for fluorescein fundus angiography (FFA) examination were performed for patients aged ＜5 years. If patients ≥ 5 years old, routine FFA examination was performed. Sixty-eight first-degree relatives from 28 families undergo routine fundus examinations and FFA examination. Genetic examination was performed for 26 families, including 26 probands and 57 first-degree relatives. Genetic examination were performed on gene the coreceptor of low density lipoprotein receptor-associated protein 5 (LRP5), Wnt receptor coiled protein 4 (FZD4), Norrie disease (NDP), tetraporin 12 (TSPAN12), catenin β1 (CTNNB1) genes known to be involved in FEVR. The clinical features and the genotype of FEVR were observed in relation to the clinical phenotype. ResultsAmong the 42 patients, 13 patients were first observed by strabismus and nystagmus, with the median age of 12 months. Eight patients were complained non-chasing or vision-related symptoms. Among the 84 eyes, FEVR stage 1 or 2, 3 or 4, and 5 were 50 (59.5%, 50/84), 31 (36.9%, 31/84), and 3 (3.6%, 3/84) eyes, respectively. Among the 23 patients who were > 3 months at first diagnosis, 16 patients had at least one eye severer than stage 3 (69.6%, 16/23). Of the 68 first-degree relatives, 22 (32.4%, 22/68) had FEVR-like changes. Among the 26 families that underwent genetic detection, 13 families (50%, 13/26) of 16 variants of FEVR-related genes were detected, of which 10 mutations of LRP5 gene were the most common. There were 10 families with single gene mutations, including 6, 2 and 2 families of LRP5, FZD4 and CTNNB1 genes, respectively. One family of LRP5 gene mutations were compound heterozygous mutations, 1 family with LRP5 gene mutaition combined with NDP gene mutation, and 1 family with LRP5 and TSPAN12 gene mutation. Among the proband with FEVR pathogenic genes, 6 cases with similiar stage of both eyes, and 7 cases with inconsistent disease stages, and there was no obvious correlation between gene mutations and clinical phenotypes. ConclusionIn addition to the age of first diagnosis, no exact factors affecting the clinical manifestations of FEVR are found, and the association between clinical phenotypic and genetic heterogeneity still needs to be further explored.
Objective To observe visual field outcome and refractive status of patients with retinopathy of prematurity (ROP) treated by laser photocoagulation. Method The data of 39 ROP patients (73 eyes) who received laser photocoagulation were retrospectively analyzed and compared with 13 normal control subjects (25 eyes) whose age and sex were matched with ROP group. There were 24 males (45 eyes) and 15 females (28 eyes) in ROP group, with an average age of (7.0±1.28) years. The first laser treatment was carried out at postnatal age (PA) of (38.74±3.82) weeks, the birth weight (BW) of (1402.33±369.61) g and the number of laser burns was (517.86±277.40). The control group included 7 females (13 eyes) and 6 males (12 eyes), with an average age of (7.17±0.96) years. The age (t=0.691) and gender (χ2=1.425) were comparable between the two groups (P=0.491, 0.233). The data of patients and controls were retrospectively analyzed including best corrected visual acuity, refractive examination, automated perimetry test. The differences of the mean deviation (MD) of visual field and the spherical equivalent (SE) between these two groups were comparatively observed. ROP patients were divided into no VF loss group (MD≤2 dB) and VF loss group (MD＞2 dB), mild VF loss group (MD≤6 dB) and moderate VF loss group (MD＞6 dB) according to the results of automated perimetry test, the differences of gestational age (GA), PA, BW, number of laser burns and SE between these groups were comparatively observed. Results The MD in ROP group and control group were 4.87±5.12 dB and 1.27±3.34 dB, respectively; the difference between the two groups was statistically significant (t=–4.01,P＜0.001). The subgroup analysis showed that BW, number of laser burns, and SE were significantly different between no VF loss group and VF loss group (t=2.074, –1.996, –2.162;P=0.042, 0.026, 0.034); while the GA was not significantly different between these two groups (t=1.973,P=0.052). The difference of PA was not statistical significant different between mild VF loss group and moderate VF loss group (t=2.03,P=0.051) and SE was significantly different between the above two groups (t=3.283,P=0.002). For refractive outcomes, the BW and ROP stage correlated with SE significantly (r=–0.304, –0.387;P=0.015, 0.002). The mean BCVA in ROP group was 0.84±0.23, and 59 eyes (91.2%) with BCVA better than 0.5. Conclusion Laser treatment for ROP tends to have less effect on long term refractive status and VF loss, with good visual outcome.
ObjectiveTo investigate the prognosis and differences of visual function and fundus structure in retinopathy of prematurity (ROP) undergoing anti-vascular endothelial growth factor agents (VEGF) or laser photocoagulation treatment with long-term follow-up. MethodsRetrospective case control series. From January 2010 to December 2021, A total of 35 children (63 eyes) with ROP who were first diagnosed in Department of Ophthalmology, Peking University People's Hospital and followed up for as long as 5 years were included. Among them, 21 males (36 eyes) and 15 females (27 eyes) were enrolled. The average gestational age (GA) of the children at birth was 29.30±1.77 weeks. Among the included 12 aggressive ROP (A-ROP) eyes and 51 pre-threshold type 1 ROP eyes, no retinal detachment occurred. Each eye received only intravitreal injection of anti-VEGF agents or laser monotherapy after diagnosis, and divided into anti-VEGF group or laser group according to the treatment. Thirty-five eyes of 20 infants were included in the anti-VEGF group and 28 eyes of 15 infants were included in the laser group. GA, birth weight (BW) and postmenstrual age receiving first treatment were compared and no significant difference between the two groups was defined (P=0.844, 0.859, 0.694). The number of A-ROP, pre-threshold type 1 ROP eyes were also compared, and statistically significance can be defined (P=0.005). During the follow-up period, best corrected visual acuity (BCVA), refractive status, visual field, optical coherence tomography (OCT) and fluorescein fundus angiography (FFA) were performed. The BCVA examination was carried out using the international standard decimal visual acuity chart, which was converted into the logarithm of the minimum angle of resolution (logMAR) visual acuity for statistics. Refractive status was calculated as spherical equivalent (SE). Comparative observation of 5-year outcomes including BW, GA, fundus examination at the initial diagnosis, and BCVA, refractive status, visual field defect, central foveal thickness (CFT), subfoveal choroidal thickness (SFCT) and abnormality of peripheral retina in FFA were performed between the two groups. Differences between groups were compared using t test or nonparametric test for measurement data, and χ2 test was used for comparison between groups in enumeration data. ResultsFive years after treatment, retinal avascular areas were seen around the eyes in the anti-VEGF treatment group, with a size of 2.32±1.84 optic disc diameters, and 1 eye had fluorescein leakage at the junction of the peripheral avascular areas; eyes in the laser treatment group old photocoagulation spots were seen in the peripheral retina, and no fluorescein leakage was seen. The logMAR BCVA of the eyes in the anti-VEGF treatment group and laser treatment group were 0.15 (0.00, 0.20), 0.10 (0.00, 0.16), respectively; SE were 0.50 (－1.25, 1.31), 0.38 (－4.25, 1.75) D, respectively; mean defect (MD) values of visual field were 2.70 (1.20, 4.80), 4.25 (2.83, 6.98) dB; CFT, SFCT were 225.00±29.31, 287.18±68.56 μm and 237.17±32.81, 279.79±43.61 μm. There was no significant difference in logMAR BCVA, CFT and SFCT between the two groups (P=0.363, 0.147, 0.622); the lower quartile of SE and visual field MD value in the laser treatment group were significantly higher than those in the laser treatment group, but there was no significant difference in the median SE (P=0.109), and there was a statistically significant difference in the median MD value of the visual field (P=0.037). ConclusionsAnti-VEGF agents and laser therapy can achieve similar good visual prognosis for early ROP, and the peripheral visual field can be preserved to a greater extent, however, the peripheral visual field defect in the laser group is more significant than that in the anti-VEGF group. For ROP without retinal detachment, the thickness of the retina and choroid in the fovea is generally normal.
Objective To compare the predicted efficiency of macular hole closure index (MHCI) calculated by 2 different methods for postoperative anatomical outcomes after idiopathic macular hole (MH) surgery. Methods This is a prospective exploratory clinical study. A total of 63 patients (63 eyes) with idiopathic MH, who received vitrectomy, inner limiting membrane peeling and gas tamponade, were enrolled in this study. All the patients received optical coherence tomography (OCT) examination at each visit to measure the MHCI using the formula MHCI=（M+N）/BASE, M and N is the distance from outer limiting membrane break points to the beginning points of detached photoreceptor from retinal pigment epithelium of both side of the hole, respectively. BASE is the length of MH base. MHCI1 was measured by built-in caliper of OCT software, MHCI2 was measured by ImageJ software. The minimum macular diameter (MHD) was measured by built-in caliper of OCT software. Based on the OCT images, the anatomical outcomes were classified grade A (bridge-like shape closure), grade B (complete closure) and grade C (poor closure). Grade A and B are considered as good closure, grade C as poor closure. Patients were followed up at 3, 6 and 12 months after surgery. The closure grades at last visit were the final outcome. The relationship between MHCI1, MHCI2 and closure grades was analyzed. And the predicted efficiency of MHD, MHCI1 and MHCI2 for anatomical outcomes after the surgery was studied. Results The mean MHCI1 was 0.68±0.21 (0.30-1.35), MHCI2 was 0.95±0.26 (0.41-1.55), and MHD was (476.24±210.18) μm (127-956 μm). MHCI1 and MHCI2 were both negative correlated with the closure grades (r=−0.665, −0.691; P＜0.001). The receiver operating characteristic (ROC) curve analysis of MHCI1, MHCI2 and MHD for the prediction of good or poor closure showed that area under the curve (AUC) was 0.928, 0.957 and 0.916 respectively, and 0.505, 0.67 and 559 μm were set as the lower cut-off value. The sensitivity was 96.2%, 92.3% and 90.9% respectively, and specificity was 81.8%, 72.7% and 76.9% respectively. Accordingly, the ROC curve analysis for the prediction of grade A or B closure showed that AUC was 0.840, 0.847 and 0.653 respectively, and 0.705, 0.965 and 364 μm were set as the upper cut-off value. The sensitivity was 80.0%, 82.9%, 63.4% respectively and specificity was 75.0%, 85.7%, 65.9%. Conclusion MHCI1 and MHCI2, measured by built-in caliper of OCT software or ImageJ software, both have good predictive efficiency for the anatomical outcomes of MH surgery.