Frequency and Treatment Regimens of Macular Edema in 1946 Consecutive Patients with Noninfectious Uveitis at a Tertiary Ophthalmic Center in Shaanxi, China.

INTRODUCTION: We investigated the frequency of uveitic macular edema (UME) in patients with different types of noninfectious uveitis and present the primary treatment methods for UME at a specialized eye center in Shaanxi Province, China. METHODS: We conducted a retrospective, noninterventional, observational survey involving 1946 patients with noninfectious uveitis (2816 eyes). The collected data included sex, age of uveitis onset, age of UME onset, anatomical classification of uveitis, and the treatment administered to UME patients. RESULTS: Of the 1946 patients with noninfectious uveitis, 929 (47.74%) were male and 1017 (52.26%) were female. The average age of all participants in the study was 42.19 ± 15.34 years, with average age at uveitis onset of 39.50 ± 15.52 years. Among the patients, 1003 (51.54%), 239 (12.28%), 410 (21.07%), and 294 (15.11%) had anterior uveitis, intermediate uveitis, posterior uveitis, and panuveitis, respectively. UME was observed in 134 (6.89%) of the uveitis patients. The average age of UME patients was 47.33 ± 17.17 years, with average age at uveitis onset of 45.78 ± 17.20 years. Out of the 134 UME patients, 3 (0.30%), 15 (6.28%), 47 (11.46%), and 69 (23.47%) had anterior uveitis, intermediate uveitis, posterior uveitis, and panuveitis, respectively. Among them, 37 were lost to follow-up, 44 received adalimumab (ADA) combined with low-dose prednisone and with or without conventional immunosuppressants, 19 received interferon-α2a therapy, 14 received intravitreal corticosteroid injections (such as dexamethasone implant or fluocinolone acetonide), 11 received low-dose corticosteroids combined with conventional immunosuppressants, 5 received only oral prednisone, and 4 received repeated peribulbar or subconjunctival injections of triamcinolone acetonide. CONCLUSIONS: At our tertiary ophthalmic center in Shaanxi Province, China, only 6.89% of patients with noninfectious uveitis were diagnosed with UME. The primary treatment modality for UME in our center is ADA, in accordance with treatment guidelines and the Chinese medical insurance reimbursement system.

Macular edema is a common complication that can cause vision loss in patients with uveitis. However, there is limited information about the occurrence of uveitic macular edema in the past two decades, and existing data mainly focus on developed countries such as the Netherlands and Italy. There are no relevant data for Asian countries such as China or Japan. In this study, we examined the frequency of uveitic macular edema in 1946 patients (2816 eyes) with different types of noninfectious uveitis who received treatment at a specialized eye center in Shaanxi Province, China, between January 2021 and October 2022. Among the uveitis patients, only 134 (6.89%) had uveitic macular edema. Out of these 134 patients, 3 (0.30%), 15 (6.28%), 47 (11.46%), and 69 (23.47%) had anterior uveitis, intermediate uveitis, posterior uveitis, and panuveitis, respectively. Additionally, we analyzed the treatment methods used for uveitic macular edema patients. In our center, the primary treatment approach for uveitic macular edema is adalimumab, in accordance with treatment guidelines and the Chinese medical insurance reimbursement system. Other treatment strategies include interferon-α2a therapy, intravitreal dexamethasone implants, and low-dose corticosteroids combined with conventional immunosuppressants. Our research provides valuable insights into the occurrence of uveitic macular edema in noninfectious uveitis patients and the current treatment practices at a single medical center in Shaanxi, China.

Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.

BACKGROUND: Congenital cataract is a clinical and genetic heterogeneous group of eye disorders that causes visual impairment and childhood blindness. In this study, a Chinese family with congenital cataract is studied. METHODS: In order to identify the genetic defects which were associated with congenital cataract, a whole-exome sequencing approach is performed to screen for the potential mutation-causing disease. RESULTS: The result revealed a novel heterozygous mutation (c.433G > T; p.G145W) in exon 2 the of GJA8 gene, which can be detected in all affected individuals, but not the unaffected family members. Meanwhile, this novel mutation cannot be retrieved in 100 healthy local Chinese controls and five other SNPs databases (dbSNP, ESP, ExAC, HTD and HGVD). Moreover, p.G145W was predicted as a mutation with pathogenicity by using bioinformatics methods, including PolyPhen-2, SIFT, PROVEAN, SNPs3D and the mutation significance cutoff (MSC). However, molecular function analysis of this novel mutation (p.G145W, GJA8) indicated that it did not affect the subcellular distributions and the trafficking of GJA8 protein to the plasma membrane. The truth of pathogenic significance with this novel mutation in GJA8 gene needed to be further studied. CONCLUSIONS: The c.433G > T (p.G145W) mutation in the GJA8 gene was first reported to our best knowledge. The results of our study would further broaden the mutation spectrum of GJA8 associated with congenital cataract.