CFH I62V as a Putative Genetic Marker for Posner-Schlossman Syndrome.

Objective: Posner-Schlossman syndrome (PSS), also known as glaucomatocyclitic crisis, is an ocular condition characterized by recurrent attacks of anterior uveitis and raised intraocular pressure. Previous studies by our team and others have identified the genetic association of complement pathway genes with uveitis and glaucoma. This study aimed to investigate the complement genes in PSS patients with the view of elucidating the genetic background of the disease. Methods: A total of 331 subjects (56 PSS patients and 275 controls) were recruited for this study. We selected 27 variants in six complement pathway genes (SERPING1, C2, CFB, CFH, C3, and C5) and detected them using TaqMan single nucleotide polymorphism (SNP) Genotyping Assays. Univariate SNP association analysis, haplotype-based association analysis, gene-gene interaction analysis among complement genes, and genotype-phenotype correlation analysis were performed. Results: Among the 27 variants of six complement pathway genes, the functional variant I62V (rs800292) at the CFH gene was found to be significantly associated with PSS; there was a significant increase in the frequency of A allele and AA homozygosity in PSS patients than in controls (P = 1.79 × 10-4; odds ratio (OR) 2.18, 95% CI: 1.44-3.29; P = 4.65 × 10-4; OR 3.66, 95% CI: 1.70-7.85, respectively). The additive effect of CFH-rs800292 and SERPING1-rs3824988 was identified with an OR of 12.50 (95% CI: 2.16-72.28). Genotype-phenotype analysis indicated that the rs800292 AA genotype was associated with a higher intraocular pressure and higher frequency of recurrence. Unlike a high proportion of human leukocyte antigen (HLA)-B27 positivity in anterior uveitis, only 3 in 56 (5.36%) PSS patients were HLA-B27 positive. In addition, one haplotype block (GC) in the SERPING1 gene showed a nominal association with PSS with an increased risk of 2.04 (P = 0.01; 95% CI: 1.18-3.53), but the P-value could not withstand the Bonferroni correction (Pcorr > 0.05). Conclusion: This study revealed a genetic association of a CFH variant with PSS as well as its clinical parameters, implying that the alternative complement pathway might play an important role in the pathogenesis of PSS. Further studies to enrich the understanding of the genetic background of PSS and the role of the complement system in ocular inflammation are warranted.

Three-year follow-up of Coats disease treated with conbercept and 532-nm laser photocoagulation.

BACKGROUND: Coats disease is an idiopathic exudative outer retinopathy caused by abnormal retinal vascular development. AIM: To evaluate the long-term outcomes of intravitreal conbercept injection with laser photocoagulation as a treatment for Coats disease in adults. METHODS: This retrospective case series study included patients diagnosed with Coats disease and treated with intravitreal conbercept injection and 532-nm laser photocoagulation at the Ophthalmology Department of Shenzhen People's Hospital between January 2016 and January 2017. Best-corrected visual acuity (BCVA) measurements, noncontact tonometry, ophthalmoscopy, fundus photography, fundus fluorescein angiography and optical coherence tomography were performed before treatment and at 1 wk, 1 mo, 3 mo, 6 mo, 9 mo, 12 mo, 24 mo and 36 mo after therapy. Best-corrected visual acuity was measured using the early treatment of diabetic retinopathy study chart. RESULTS: The study included eight eyes of 8 patients (7 men) aged 36.10 ± 6.65 years. The average BCVA of the affected eye before treatment was 51.17 ± 15.15 letters (range, 28-70 letters), and the average central macular thickness was 303.30 ± 107.87 µm (range, 221-673 µm). Four eyes were injected once, three were injected twice, and one was injected three times. Average follow-up duration was 37.33 ± 2.26 mo. Average BCVA of the affected eye was 51.17 ± 15.15 letters before treatment and was increased by 13.50 ± 3.20, 16.25 ± 7.73, 18.25 ± 8.96, 18.03 ± 5.27, 18.63 ± 3.35, 19.75 ± 6.96, 18.05 ± 5.36 and 17.88 ± 3.45 letters at 1 wk, 1 mo, 3 mo, 6 mo, 9 mo, 12 mo, 24 mo and 36 mo after treatment, respectively (P < 0.01). The patients showed varying degrees of subretinal fluid resorption after treatment. None of the patients had serious complications such as increased intraocular pressure, development/progression of cataracts, endophthalmitis or retinal detachment. CONCLUSION: Intravitreal injection of conbercept combined with 532-nm laser photocoagulation may be a feasible treatment for Coats disease in adult patients.