Characteristics, Upon Presentation, of a Cohort of Hispanic Patients with Birdshot Retinochoroidopathy.

OBJECTIVE: To describe the characteristics, upon presentation, of a cohort of Hispanic patients with birdshot retinochoroidopathy. METHODS: A retrospective chart review of Hispanic patients with birdshot retinochoroidopathy of was performed. The demographic and clinical characteristics were analyzed. RESULTS: Nine patients who met the research criteria for a diagnosis of birdshot retinochoroidopathy were identified and included in the analysis, all of whom were HLA-A29 positive. The median age of the cohort upon presentation was 52 years; 89% of the patients were female, and all were Hispanics. Ninety-four percent of the eyes had an initial visual acuity of 20/50 or better, while 72% had measured 20/25 or better. Sixty-one percent of the eyes had retinal vasculitis, which was bilateral in 83% of the cases. Thirty-three percent of the patients had, upon presentation, evidence of cystoid macular edema, which was always bilateral. All the eyes had the typical birdshot lesions, at presentation. CONCLUSION: Birdshot retinochoroidopathy can be found in Hispanic patients. Our study suggests that the characteristics upon presentation in Hispanics may be similar to those of Caucasian cohorts.

VKORC1 C1173T and VKORC1 G-1639A gene polymorphisms in Turkish Behçet's patients with ocular and non-ocular involvement.

BACKGROUND: Behçet's disease (BD) is a multisystemic vasculitis with unknown etiology. Vitamin K epoxide reductase complex subunit 1 (VKORC1) is the key enzyme in the formation of active vitamin K that is a cofactor of various coagulation factors. Polymorphisms of the VKORC1 may affect the levels of active forms of vitamin K-dependent coagulation proteins and the tendency to thrombosis. The current study aimed to evaluate the role of VKORC1 gene polymorphisms in ocular and non-ocular Behçet's disease. METHODS: VKORC1 C1173T (rs 9934438) and G-1639A (rs 9923231) gene polymorphisms were evaluated by real-time polymerase chain reaction-based DNA analysis. The frequency of alleles and distribution of genotypes were assessed by the chi-squared test. Genotype distribution and Hardy-Weinberg equilibrium were tested with the χ(2) test for quality of fit. RESULTS: The distribution of GG, GA and AA and CC, CT, TT genotypes and the frequency of G,A and C,T alleles were not found to be different between patients and controls (p = 0.5651; p = 0.335 respectively), as well as patients with or without eye involvement (p = 0.9267; p = 0.384 respectively). CONCLUSION: VKORC1 polymorphisms seem not to be related with the thrombotic state of systemic and ocular Behçet's disease.

Association of interferon-gamma, interleukin-10, and tumor necrosis factor-alpha gene polymorphisms with occurrence and severity of Eales' disease.

PURPOSE: Eales' disease (ED) is an idiopathic retinal vasculitis characterized by capillary nonperfusion and neovascularization. Previous reports on ED demonstrated that T-cell-mediated immunoresponse and differential cytokine production in inflammatory and angiogenic stage seem to influence the extent and severity of this disease. Therefore, the purpose of this study is to investigate the influence of cytokine gene polymorphisms on occurrence and severity of ED. METHODS: One hundred twenty-one patients with ED were recruited from an Eastern Indian population and compared with 223 matched healthy control subjects. Genotyping of IFN-γ, IL-10, and TNF-α were performed by amplification refractory mutation system polymerase chain reaction (ARMS-PCR). RESULTS: A statistically significant association was found between the IL-10 -1082AA (P = 0.002), TNF-α -308AA (P = 0.0017) genotypes and the IL-10 ATA haplotype (P = 0.0123) and the occurrence of ED. In addition IL-10 -1082GG (P = 0.0005), TNF-α -308GG (P < 0.0001) genotype were found to be protective against disease occurrence. A synergistically low IL-10/high TNF-α genotype increased the risk of development (P < 0.0001) and the severity (P = 0.019) of ED. CONCLUSIONS: These data suggest that a low IL-10-expressing and high TNF-α-expressing genotype of the host can influence the occurrence and severity of outcome of ED.

Regional distinction for the clinical severity of Behçet's disease in Korea: four university-based medical centers study.

OBJECTIVES: To analyse the clinical manifestations and severity of Behçet's disease (BD) in Korea according to geographic region of residence, and to identify risk factors associated with clinical severity. METHODS: We enrolled 246 BD patients (88 males) who fulfilled the criteria of the International Study Group for BD. These patients were assigned into two groups: a Western group comprising 127 residents in west regions and an Eastern group comprising 119 residents of the SoBaek Mountains situated in the center of Korea. Clinical severity was assessed using a severity scoring index of BD. RESULTS: BD patients from the Western group had a greater prevalence of typical skin lesions, deep vein thrombosis, gastrointestinal bleeding, posterior/ panuveitis, and retinal vasculitis than did the Eastern group (p<0.001, p=0.009, p=0.032, and p=0.007, respectively). The Western group also had higher severity scores than did the Eastern group (5.88±2.5 for the Western group vs. 4.94±2.6 for the Eastern group, p=0.004). Male BD patients had higher severity scores than did female patients (6.14±2.8 vs. 5.03±2.4, p=0.001). The disease duration of BD in the Western group showed a significant association with total severity scores (r=0231, p=0.009), but this was not observed for the Eastern group. CONCLUSIONS: We found distinct differences in the clinical manifestations as well as severity of BD according to geographic region in Korean BD patients. Males, particularly those from the Western region of Korea, had significantly higher severity scores than did females.

Frosted branch angiitis secondary to macular choroidal neovascularization in a chinese woman.

BACKGROUND: This is perhaps the first report of frosted branch angiitis secondary to choroidal neovascularization (CNV) from China. We describe a case of frosted branch angiitis associated with macular CNV. CASE: A 19-year-old Chinese woman complained of metamorphopsia and blurred vision in the right eye on August 27, 2002. OBSERVATIONS: Fluorescein angiography demonstrated CNV in the macula. Five months later, focal and atrophic choroidal scars were observed in the macular area. She complained of blurred vision again on April 14, 2003. Iridocyclitis and frosted branch angiitis were found in both fundi. Following treatment with systemic acycloguanosine and corticosteroids for 4 months, the fundi recovered almost completely. CONCLUSIONS: A case of frosted branch angiitis secondary to macular choroidal neovascularization is reported in a Chinese woman. The relation between frosted branch angiitis and CNV remains to be further explored.

Eales' disease in Inuit: report of four cases.

PURPOSE: To report four cases of Eales' disease in Inuit from Greenland diagnosed within a 6.5-year period. There are no previous reports on Eales' disease among Greenlanders. METHODS: Four younger Inuit, three males and one female, were diagnosed with Eales' disease based on fundus changes and exclusion of possible differential diagnoses. Several studies point to a possible relation between Eales' disease and tuberculosis (TB); examination of possible exposure to TB was part of the clinical investigation. RESULTS: Retinal changes made panretinal laser photocoagulation necessary in all cases. Four eyes in three patients were vitrectomized. Three patients received oral corticosteroid treatment. The final visual outcome was relatively good, with a visual acuity below 6/60 (3/36) in only one vitrectomized eye. All patients had been exposed to TB. CONCLUSION: Eales' disease seems to be rather common in the small population of Inuit (56,000) in Greenland. Attention is required to ensure diagnosis and appropriate treatment, including laser photocoagulation, leading to a reasonably good prognosis.