Objective To compare the efficacy of intravitreal injection of ranibizumab and bevacizumab in the treatment of pathological myopia choroidal neovascularization (PM-CNV). Methods It is a retrospective case study. Seventy-nine patients (79 eyes) with PM-CNV were enrolled in this study. There were 26 males (26 eyes) and 53 females (53 eyes), with the mean age of (30.77±5.53) years. The best corrected visual acuity (BCVA), intraocular pressure, slit lamp microscope, fundus color photography, fundus fluorescein angiography, and optical coherence tomography (OCT) were performed. BCVA was recorded as logarithm of the minimum angle of resolution (logMAR). The central retinal thickness (CMT) was measured by OCT (Cirrus HD-OCT). The eyes were divided into bevacizumab treatment group (38 eyes) and ranibizumab treatment group (41 eyes). There was no difference of the mean logMAR BCVA, intraocular pressure and CMT between two groups (t=−0.467, −1.983, 1.293;P=0.642, 0.051, 0.200). The eyes in bevacizumab treatment group were treated with bevacizumab 0.05 ml (1.25 mg), and the eyes in ranibizumab treatment group were treated with ranibizumab 0.05 ml (0.5 mg). Times of injection between two groups were compared. The changes of intraocular pressure were observed at 1, 7 days and 1 month after treatment. The changes of logMAR BCVA and CMT at 1, 3, 6, 12 and 24 months after treatment and systemic adverse reactions occur were compared. Results At the 1, 3, 6, 12 and 24 months after treatment, the mean logMAR BCVA of the bevacizumab treatment group and the ranibizumab treatment group was significantly improved than that before treatment (F=132.374,P＜0.01). There was no significant difference in the mean logMAR BCVA at different time points between the two groups (F=0.095,P=0.759). The mean CMT of the two groups was lower than that before treatment (F=151.653,P＜0.01). There was no significant difference in the mean CMT between the two groups (F=0.332,P=0.566). No retinal detachment, endophthalmitis, cataract and persistent high intraocular pressure were associated with drug, injection-related eye and systemic adverse events during follow-up. Seven eyes had conjunctiva bleeding after treatment, 11 patients (11 eyes) complained of shadow floaters after treatment. Conclusion Intravitreal injection of bevacizumab or ranibizumab can equally effectively improve the visual acuity and reduce the CMT of PM-CNV patients.
ObjectiveTo report the BEST1 gene mutations and clinical phenotypes in two pedigrees with Best vitelliform macular dystrophy (BVMD) and autosomal recessive bestrophinopathy (ARB)．MethodsA retrospective clinical study. From November 2019 to March 2021, in the Department of Ophthalmology of The First Affiliated Hospital of Zhengzhou University, the BVMD family (4 patients and 6 family members) and the ARB family (2 patients, 2 family members), a total of 6 patients and 8 normal family members were included in the study. Detailed medical history was obtained; best corrected visual acuity, fundus color photography, electrophysiology, optical coherence tomography and fundus autofluorescence examination were performed. The clinical characteristics for all patients in the two families were analyzed. Three milliliter peripheral venous blood of all participants in the family was collected, and the whole genomic DNA was extracted with gene sequencing using next-generation sequencing technology based on targeted capture. Compared with the database to identify the pathogenicity mutation sites, suspected pathogenic mutation sites were selected, then mutations in other members in the family was assayed by Sanger sequencing. ResultsIn family 1, the proband was demonstrated as typical BVMD, other patients were multifocal vitelliform macular dystrophy. The DNA sequencing result showed that all the 4 patients carried heterozygous missense mutations in exon 3 of BEST1 gene: c.240C>G (p.F80L) (M1) and 2 members carried this mutation, but without clinical phenotype. M1 was a likely-pathogenic mutation reported for the first time. In family 2, the proband and the other patient were diagnosed as ARB. The DNA result showed that the 2 patients carried heterozygous missense mutations in exon 5 and exon 2 of BEST1 gene: c.584C>T (p.A195V) (M2)、c.139C>A (p.R47S) (M3), and a heterozygous frameshift mutation in exon 3 of BEST1 gene: c.235dupT (p.S79Ffs*153) (M4). M2 was a pathogenic mutation reported previously. M3 variant was of undetermined significance. M4 was a first reported pathogenic mutation. ConclusionsThe BEST1 gene mutation is the main cause of BVMD and ARB. Different mutation sites have different clinical phenotypes. BVMD and ARB have genetic and clinical heterogeneity.
ObjectiveTo observe and analyze the macular choroidal thickness and choroidal blood perfusion (CBP) in eyes with idiopathic macular hole (IMH) and their correlation. MethodsA cross-sectional observational clinical study. From March 2019 to October 2021, 60 IMH patients with 60 eyes (IMH group) and 60 healthy volunteers with 60 eyes (control group) who consecutively visited Department of Ophthalmology of The First Affiliated Hospital of Zhengzhou University were included in the study. Among the 60 eyes in the IMH group, 8, 8, 15, and 29 eyes were at stage Ⅰ, Ⅱ, Ⅲ, and Ⅳ, respectively. There was no significant difference in age, spherical equivalent power and axial length between the two groups (t=1.327, 0.157, 0.542; P＞0.05). The average macular choriodal thickness (AMCT) and CBP in different regions of the macular region of the examined eye were measured using a swept-frequency light source optical coherence tomography scanner. According to the zoning method for the treatment of diabetic retinopathy, the choroid within 6 mm of the fovea was divided into 3 concentric circles with the fovea as the center. They are the central area with a diameter of 1 mm, the inner ring area of 1-3 mm, and the outer ring area of 3-6 mm; the inner ring area and the outer ring area were divided into 4 areas by 2 radiations respectively, including the upper part of the inner superior (IS), the lower part of the inner inferior (Ⅱ), and the nasal side of the inner nasal (IN), inner temporal (IT), outer superior (OS), outer inferior (OI), outer nasal (ON), outer temporal (OT), a total of 9 regions. The distribution characteristics of AMCT and CBP in different regions were observed. The correlation between AMCT and CBP was analyzed by Pearson correlation; the correlation between AMCT, CBP and IMH stage was analyzed by Spearman correlation. ResultsCompared with the eyes of the control group, the AMCT of the affected eyes in the IMH group was significantly thinner in all areas of the macula, and the difference was statistically significant (t=2.378, 4.641, 2.888, 3.390, 3.575, 4.870, 4.077, 4.946, 4.578; P＜0.05). Compared with the control group, the CBP in the OS and OT regions of the affected eyes in the IMH group was significantly lower, the difference was statistically significant (t=3.424, 4.516; P＜0.05). The results of Pearson correlation analysis showed that there was a significant positive correlation between AMCT and CBP in the OT region (r=0.314, P＜0.001). Spearman correlation analysis showed that there was a significant positive correlation between AMCT and IMH staging in each region (r=0.375, 0.374, 0.289, 0.379, 0.441, 0.392, 0.303, 0.341, 0.292; P＜0.05). There was no significant correlation between CBP and IMH staging in IN, OI and OT regions (r=－0.138, －0.016, －0.221; P＞0.05); CBP and IMH staging in other regions were significantly negatively correlated (r=－0.560, －0.390, －0.819, －0.692, －0.329, －0.587; P＜0.05). ConclusionsThe choroidal thickness in the macular region of the eyes with IMH is significantly thinner than that of the normal subjects; there is choroidal hypoperfusion in local areas. There is a significant positive correlation between local regional AMCT and CBP; IMH stage is higher, the trend of AMCT in each region is thickening, and the CBP in most regions decrease.