Cytomegalovirus (CMV) retinitis (CMVR) is a common opportunistic infection of the eye after allogeneic hematopoietic stem cell transplantation in patients with hematological diseases. It often occurs within 3 months after the operation, with CMV activation and high blood CMV peaks. It often occurs on patients with long-term CMV viremia, human leukocyte antigen incompatible transplantation, unrelated donor transplantation, haploid transplantation, childhood hematopoietic stem cell transplantation, delayed lymphocyte engraftment, acute and chronic graft-versus-host disease after surgery. The visual prognosis of patients is related to the area of CMVR lesions on the retina, the number of quadrants involved, whether the macula is involved, and the CMV load of the vitreous body is involved, and it is not related to whether the Epstein-Barr virus infection is combined with blood and vitreous humor. The incidence of CMVR is increasing year by year. It is helpful that paying attention to systemic risk factors and epidemiology can provide more effective guidance for ophthalmologists during diagnosis and treatment, help patients improve the prognosis of vision, and reduce or even avoid the occurrence of blindness caused by CMVR.
Vaccine-associated uveitis (VAU) usually refers to a rare adverse reaction that occurs after vaccination. The clinical manifestations of VAU are most often anterior with mild symptoms and responded promptly to topical corticosteroids. However, more severe forms of posterior and panuveitis may also occur, such as multiple evanescent white dot syndrome, Vogt-Koyanagi-Harada syndrome, and acute posterior multifocal placoid pigment epitheliopathy. The pathogenesis of VAU is still unclear. Currently, it mainly includes vaccine Shoenfeld syndrome, type Ⅲ hypersensitivity reaction caused by immune complex deposition, direct infection with live attenuated vaccine, and molecular mimicry theory. VAU is self-limiting, and most patients heal without treatment. In the future, it is recommended to ask all patients with uveitis about their recent vaccination history in the clinic. For patients with inactivated vaccine or recombinant/subunit vaccination history, the possibility of developing Shoenfeld syndrome should be considered, and the history, signs and symptoms related to autoimmune diseases should be carefully looked for.
ObjectiveTo observe the imaging characteristics of optical coherence tomography angiography (OCTA) and the changes of choroidal capillary density (CCD) in the eyes of patients with high myopia choroidal neovascularization (mCNV). MethodsA case-control study. From January 2018 to October 2020, 50 cases of mCNV patients with 50 eyes (mCNV group) were included in the study. There were 18 males and 32 females; their age was 42.11±11.66 years old. Fifty eyes of 50 patients with normal fundus with matching myopia refractive power (≥6.00 D) were selected as the simple high myopia group, and 50 normal volunteers (refractive power －0.25-0.25 D) while 50 eyes were selected as the normal control group. There was no statistically significant difference in age (F=0.028) and gender composition ratio (χ2=0.136) among the three groups of patients (P＞0.05); the difference in best corrected visual acuity was statistically significant (F=14.762, P=0.004). Compared with mCNV group and pure high myopia group, the refractive index (t=－0.273) and axial length (t=0.312) of the examined eyes were not statistically significant (P＞0.05). OCTA instrument was used to measure the CCD in the macular area of the examined eye. Analysis of variance was used for comparison of measurement data among the three groups; χ2 test was used for comparison of categorical variables. The paired t test was performed to compare the CCD of the mCNV patient's eye and the contralateral eye. ResultsAmong the 50 eyes in the mCNV group, Ⅰ, Ⅱ, and mixed choroidal neovascularization (CNV) were 12 (24%, 12/50), 34 (68%, 34/50), and 4 (8%, 4/50) eyes, respectively. Corresponding to the OCTA cross-sectional image of the lesion, there was a clear “flower cluster”-like strong blood flow signal. Among them, the focal shape, the filament shape, and the group net shape were 6 (12%, 6/50), 8 (11%, 8/50), and 36 (72%, 36/50) eyes, respectively. The CCD of the eyes in the mCNV group, the pure high myopia group, and the normal control group were (57.39±3.24)%, (59.33±2.23)%, and (61.87±1.62)%, respectively. The CCD of the eyes in the mCNV group was significantly lower than that of the simple high myopia group (P=0.030) and the normal control group (P＜0.001). The CCD of the affected eye and the contralateral eye in the mCNV group were (57.39±3.24)% and (59.82±3.94)%, respectively; there was no statistically significant difference between the CCD of the affected eye and the contralateral eye (t=－0.496, P=0.100). The CCDs of eyes with Ⅰ, Ⅱ and mixed CNV were (57.38±3.31)%, (57.39±2.83)%, and (57.36±4.21)%, respectively. There were no statistically significant differences in CCD (F=1.476), age (F=0.274), sex ratio (χ2=0.825), and diopter (F=0.348) in different CNV types (P＞0.05). ConclusionThe mCNV is mostly type Ⅱ, and OCTA has a "bloom" appearance of abnormal reticular blood vessels; the CCD is significantly reduced, and it is bilateral.
ObjectiveTo observe and determine the gene mutation site and clinical phenotype of a NDP gene mutant family, and provide a basis for the prenatal diagnosis of offspring. MethodsA pedigree investigation study. Two patients and 6 family members of a third-generation Han family with NDP gene mutation who were admitted to the Maternal and Child Health Hospital of Gansu Province from July 2019 to December 2021 were included in the study. The patients and their parents underwent the examination of pupil light reflex, strip light imaging, visual acuity evaluation, fundus color photography, and wide-field fluorescein fundus angiography (FFA). Peripheral blood of all the subjects was collected, the pathogenic genes were screened by whole exome sequencing, and NDP genes were detected by amplification of multiple ligated probes. DNA prenatal diagnosis was performed by amniocentesis at 19th weeks of the mother's third gestation.ResultsProband (Ⅲ1), male, 4 years old, full term natural delivery. At about 40 days after birth, B-mode ultrasonography indicated total retinal detachment in both eyes. Normal hearing and intelligence. Fundus examination was not performed. First sibling of proband (Ⅲ2, big younger brother), ophthalmologic examination 30 days after birth, retinal detachment in both eyes. Proband's mother (Ⅱ2) had unvascularized peripheral temporal retina in both eyes. Wide-angle FFA examination showed no vascularization of the peripheral temporal retina in both eyes, and slight leakage of peripheral vascular fluorescein. The proband's second sibling (Ⅲ3, little younger brother) was screened for neonatal eye disease 1 day after birth. No abnormalities were observed outside both eyes. Cornea and lens transparent. No abnormalities were observed in the optic disc and macula in both eyes. No vascular curvature was observed in the peripheral retina. The results of gene detection showed that there was hemizygote deletion in exon 2 of NDP gene of the proband (Ⅲ1) and its big younger brother (Ⅲ2). His mother (Ⅱ2) had heterozygosity deletion in exon 2 of NDP gene. The phenotype and genetic test results of the proband's father (Ⅱ1), uncle (Ⅱ3), maternal grandfather (Ⅰ1) and maternal grandmother (Ⅰ2) were not abnormal. ConclusionsThe hemizygote deletion in exon 2 of NDP gene is a pathogenic variation in the native family. The clinical phenotypes of different genders are different. Prenatal diagnosis is an effective way to block hereditary diseases in families.