Polymorphisms of the cytomegalovirus glycoprotein B genotype in patients with Posner-Schlossman syndrome.

AIMS: The aim of this observational study was to report the distribution of glycoprotein B (gB) genotypes in the eyes of cytomegalovirus (CMV) positive patients with Posner-Schlossman syndrome (PSS), and to investigate their clinical characteristics and outcomes. METHODS: We collected aqueous humour samples from 165 patients clinically diagnosed with PSS between 2017 and 2019. PCR was performed to analyse the CMV DNA and identify the gB genotypes in the samples. Clinical characteristics and responses to antiviral treatment were compared among patients with different gB genotypes. RESULTS: CMV DNA was detected in 94 (56.97%) of the 165 aqueous humour specimens analysed. Owing to the quantity requirement for CMV gB genotype analysis, results could be obtained from only 14 specimens. CMV gB type 1 was detected in 11 samples (78.6%), whereas CMV gB type 3 was detected in three samples (21.4%). No other gB genotypes or mixed genotypes were detected. Overall, 9.1% (1/11) of the patients in the gB type 1 group and 66.7% (2/3) of the patients in the gB type 3 group had bilateral attacks (p=0.093). The concentration of anti-CMV immunoglobulin G (IgG) in the type 1 group was 0.94±0.79 s/co (ratio of aqueous humour CMV IgG/serum CMV IgG to aqueous humour albumin concentration/serum albumin concentration), whereas that in the type 3 group was 0.67±0.71 s/co. CONCLUSION: Genotype 1 was the most prevalent genotype in the aqueous humour of CMV-infected patients with PSS. Bilateral attack was predominant among patients with gB genotype 3. CMV gB gene may be related to the pathogenicity of CMV virus strain in patients with PSS.

Polymorphisms of TNFAIP3 gene in a Chinese Han population with fuchs heterochromic iridocyclitis.

PURPOSE: This study was performed to evaluate the potential association of the tumor necrosis factor alpha inducible protein 3gene (TNFAIP3) polymorphisms with Fuchs' heterochromic iridocyclitis (Fuchs' Syndrome) in a Chinese Han population. METHODS: Five single-nucleotide polymorphisms (SNPs), rs10499194, rs610604, rs7753873, rs5029928 and rs9494885 of TNFAIP3 were genotyped in 225 Fuchs' syndrome patients and 651 healthy controls using a PCR-restriction fragment length polymorphism assay. All control subjects were matched ethnically and geographically with the patients. Genotype counts in patients and controls were analyzed by the χ² test. RESULTS: All genotypic and allelic frequencies of the tested TNFAIP3 polymorphisms were in Hardy-Weinberg equilibrium. The genotypic and allelic frequencies of rs10499194, rs610604, rs7753873, rs5029928 and rs9494885 of TNFAIP3 were not different between patients with Fuchs' syndrome and controls. CONCLUSIONS: Our results suggest that rs10499194, rs610604, rs7753873, rs5029928 and rs9494885 of TNFAIP3 are not associated with Fuchs' syndrome in a Chinese Han population.

Unusual presentation of presumed posterior polymorphous dystrophy associated with iris heterochromia, band keratopathy, and keratoconus.

PURPOSE: To report an unusual presentation of posterior polymorphous corneal dystrophy (PPCD) associated with band keratopathy, iridocorneal adhesions, heterochromia, keratoconus, and confocal microscopic findings suggestive of iridocorneal endothelial syndrome. METHODS: Confocal microscopy, corneal topography, electroretinography, and genetic analysis were performed in the proband and his siblings. RESULTS: A 23-year-old man presented with decreased vision in both eyes over 9 months. Examination revealed bilateral alterations in corneal endothelial mosaic with corneal edema and beaten metal appearance in the right eye and cystoid endothelial opacities in the left eye. Marked heterochromia, band keratopathy, and broad peripheral anterior synechiae were present in both eyes. Topographic features of keratoconus were noted. Electroretinography did not detect abnormal retinal function, as has been described with PPCD associated with VSX1 mutations. Diagnosis of PPCD was postulated on the basis of the examination of 3 of proband's brothers by confocal microscopy. Genetic analysis of 3 known PPCD genes, VSX1, COL8A2, and TCF8, did not detect any mutations. CONCLUSIONS: In severe cases, PPCD can resemble iridocorneal endothelial syndromes in both clinical appearance and imaging studies (confocal microscopy). There was a strong genetic phenotypic penetrance in the family, which was essential in the diagnostic decision making. A yet undetermined genotype is contributing to this unusual PPCD phenotype.

A suggestive association of fuchs heterochromic cyclitis with cytotoxic T cell antigen 4 gene polymorphism.

BACKGROUND: Fuchs heterochromic cyclitis (FHC) is a chronic inflammatory eye disease, usually presenting as unilateral anterior uveitis. Up to date no disease susceptibility genes have been described for FHC. METHODS: The allele frequency of HLA DRB1 and DQB1, polymorphisms of the tumour necrosis factor (TNF) alpha promoter region (-376, -308, -238), the promoter (-318), first exon (+49) and (AT)n repeat polymorphism of the cytotoxic T cell antigen 4 (CTLA4) gene were analysed in 44 FHC patients and 139 healthy controls. RESULTS: The CTLA4 -318 C/T genotype was increased in FHC patients [odds ratio (OR) 3.0, 95% confidence interval (CI) 1.4-6.5], as well as long CTLA4 (AT)n microsatellite alleles with more than 16 AT repeats (OR 2.6, 95% CI 1.3-5.3). A trend towards the -308 G/A TNF-alpha genotype was found in the patient cohort, whereas no difference in HLA class II allele distribution was observed. CONCLUSION: CTLA4 but not TNF-alpha or HLA class II DRB1 and DQB1 may represent a candidate gene for disease susceptibility in FHC.

Antibodies to the 45 kDa DEK nuclear antigen in pauciarticular onset juvenile rheumatoid arthritis and iridocyclitis: selective association with MHC gene.

OBJECTIVE: To study the frequency of autoantibodies to the 45 kDa DEK nuclear antigen, a putative oncoprotein, in a sample of patients with juvenile rheumatoid arthritis (JRA), and to make correlations with disease subtype and complications such as iridocyclitis. Class I and Class II HLA associations with reactivity to the antigen were also sought. METHODS: Sera from 146 HLA typed patients with JRA representing all subtypes were analyzed for reactivity with the 45 kDa DEK protein by immunoblotting. The antigen was purified to near homogeneity from nuclei of HeLa cells. RESULTS: Antibodies to DEK were found in 57% of all patients with JRA compared to 3% of controls (p < 0.0001). Antibodies were detected more frequently in pauciarticular onset (78%) than in polyarticular onset patients (29%; p < 0.01) and controls (3%; p < 0.0001). 97% of patients with JRA (regardless of onset subtype) and iridocyclitis had anti-DEK antibodies compared to 47% of patients without eye disease (p < 0.0001). Anti-DEK antibodies were found more frequently in females compared to males in the pauciarticular onset disease group (84 vs 42%; p < 0.01). The occurrence of anti-DEK antibodies was closely associated with positive antinuclear antibody serology, and a strong association with the Class I gene HLA-A2 was also observed. CONCLUSION: Antibodies to the 45 kDa DEK protein are characteristic of the pauciarticular onset subtype of JRA, particularly in patients with a history of iridocyclitis. The occurrence of anti-DEK antibodies is significantly but paradoxically associated with the presence of the HLA-A2 allele in such patients.

Association to HLA-DRB1*08, HLA-DPB1*0301 and homozygosity for an HLA-linked proteasome gene in juvenile ankylosing spondylitis.

To assess the role of HLA genes other than those encoding B27 in predisposing to JAS and AAS, we analyzed the distribution of B*4001, as well as the DRB1, DPB1, and LMP2 alleles, using PCR-based techniques in 63 JAS and 44 AAS patients (all B27 positive). The NBMDR (N = 4724) provided a source of controls matched with the patients for B27 (or other markers when necessary). We found an increase of the B*4001, DRB1*08, and DPB1*0301 alleles, as well as the LMP2 b/b genotype (the latter was most pronounced among patients with acute iridocyclitis), in JAS compared to B27-positive controls. The increase of DRB1*08 and DPB1*0301 was due to an increase of DRB1*08 and DPB1*0301 in combination, whereas the association with B*4001 could be due to linkage disequilibrium with LMP2b. None of these associations were detected in AAS. We conclude that in JAS, in addition to the association to B27, there are also weaker but distinct associations to the DRB1*08, DPB1*0301 alleles and homozygosity for LMP2b.

A comparison of Blau's syndrome and sarcoidosis.

Blau's syndrome is a familial multisystem granulomatous inflammation which may be confused with childhood sarcoidosis because it presents with iridocyclitis, posterior uveitis, granulomatous skin disease, arthritis and elevated serum angiotensin-converting enzyme. They are distinguished by the absence of pulmonary involvement and a negative Kveim-Siltzbach skin test.

Congenital glaucoma in cutis marmorata teleangiectatica congenita.

A case of congenital glaucoma in cutis marmorata teleangiectatica congenita (CMTC, van Lohuizen syndrome) is described. The cutaneous anomaly and heterochromia iridium were noticed at birth. Brown discoloration of one iris was due to iris anterior layer dysplasia, resulting in unilateral glaucoma. Two trabeculotomies were performed until persistent normalization of intraocular pressure could be achieved. The possibility of a genetic basis and hereditary condition of CMTC and its association with congenital glaucoma is discussed. Patients with CMTC should regularly undergo ophthalmological follow-up to rule out development of glaucoma.