Assessment of lacrimal gland involvement in primary Sjögren's syndrome using gray-scale ultrasonography and shear wave elastography.

OBJECTIVES: The aim of this study was to assess lacrimal gland involvement in primary Sjögren's syndrome (pSS) using lacrimal gland gray-scale ultrasound (LGUS) and two-dimensional shear wave elastography (2D-SWE). METHODS: Eighty-five pSS patients with a mean age of 51.16 ± 10.61 years and 84 sex- and age-matched healthy subjects with a mean age of 50.94 ± 11.05 years were included in the study. Lacrimal gland parenchymal findings and 2D-SWE values were compared between the two groups and the correlations of LGUS parameters with clinical findings, dry eye tests, and minor salivary gland biopsy (MSGB) were further investigated. RESULTS: LGUS parenchymal grade was 0 in 14 (16.5%), 1 in 45 (52.9%), 2 in 23 (27.1%), and 3 in 3 patients (3.5%) in the pSS group, while in the control group, parenchymal grades were 0 (57.1%) and 1 (42.9%). The mean 2D-SWE value of pSS patients was significantly higher than the control group (p < 0.05) and increased parallel with lacrimal parenchymal grade. The elasticity modulus had a high diagnostic performance in detecting lacrimal gland involvement in pSS patients (AUC 0.901, sensitivity 70.6%, specificity 97.6%), while the diagnostic performance of LGUS was much lower (AUC 0.769, sensitivity 83.5%, specificity 57.1%). LGUS and 2D-SWE values were found to be correlated with dry eye tests and MSGB results (p < 0.05). CONCLUSIONS: LGUS and 2D-SWE are both useful for assessing the lacrimal gland involvement in pSS patients; however, 2D-SWE has a better diagnostic performance than LGUS and found to be correlated with dry eye tests. CLINICAL RELEVANCE STATEMENT: Lacrimal gland US and two-dimensional shear wave elastography (2D-SWE) are imaging modalities that can be used to demonstrate parenchymal involvement of the lacrimal gland in primary Sjögren's syndrome (pSS). KEY POINTS: • Gray-scale US and two-dimensional shear wave elastography (2D-SWE) have been widely used in the recent decade to assess gland involvement in patients with primary Sjögren's syndrome (pSS). • The elasticity modulus had a high diagnostic performance in detecting lacrimal gland involvement in primary Sjögren's syndrome (pSS) patients. • Lacrimal gland US and two-dimensional shear wave elastography (2D-SWE) are both useful for assessing the lacrimal gland in primary Sjögren's syndrome (pSS) patients; however, two-dimensional shear wave elastography (2D-SWE) has a better diagnostic performance than lacrimal gland ultrasound (LGUS).

Management of patients with chronic rhinosinusitis during the COVID-19 pandemic-An EAACI position paper.

BACKGROUND: Chronic rhinosinusitis is regarded as a chronic airway disease. According to WHO recommendations, it may be a risk factor for COVID-19 patients. In most CRSwNP cases, the inflammatory changes affecting the nasal and paranasal mucous membranes are type-2 (T2) inflammation endotypes. METHODS: The current knowledge on COVID-19 and on treatment options for CRS was analyzed by a literature search in Medline, Pubmed, international guidelines, the Cochrane Library and the Internet. RESULTS: Based on international literature, on current recommendations by WHO and other international organizations as well as on previous experience, a panel of experts from EAACI and ARIA provided recommendations for the treatment of CRS during the COVID-19 pandemic. CONCLUSION: Intranasal corticosteroids remain the standard treatment for CRS in patients with SARS-CoV-2 infection. Surgical treatments should be reduced to a minimum and surgery preserved for patients with local complications and for those with no other treatment options. Systemic corticosteroids should be avoided. Treatment with biologics can be continued with careful monitoring in noninfected patients and should be temporarily interrupted during the course of the COVID-19 infection.

Quantitative assessment of the effect of acute anaerobic exercise on macular perfusion via swept-source optical coherence tomography angiography in young football players.

AIM: To evaluate the effect of acute anaerobic exercise on macular perfusion measured by swept-source optical coherence tomography angiography (SS-OCTA) in young football players. MATERIALS AND METHODS: Football players with ages between 18 and 20 years were included into the study. After a detailed ophthalmological examination, physiological parameters including height (cm), body weight (kg), body fat percentage (%), systemic blood pressure (BP) (mmHg), hematocrit values (%), oxygen saturation pO2 (%) and heart rate (bpm) were recorded. Intraocular pressure (IOP) (mmHg) and SS-OCTA using DRI OCT Triton (Topcon, Tokyo, Japan) were measured immediately before and after Wingate test. RESULTS: Out of 20, 16 participants completed the study. All participants were males with a mean age of 18.12 ± .34 years. Systolic BP, hematocrit and heart rate increased, while pO2 and IOP decreased remarkably after Wingate test (p < .01). After anaerobic exercise, there was an increase in mean FAZ area in superficial capillary plexus (FAZs) which was not significant (p = .13), while decrease in FAZ area in deep capillary plexus (FAZd) (mm2) was remarkable (p = .04). No changes were observed in mean vessel density (VD) (%) in superficial capillary plexus (VDs), deep capillary plexus (VDd), choriocapillaris (VDcc), central macular thickness (CMT) (µm) and subfoveal choroidal thickness (SFCT) (µm) after Wingate test (p > .05). FAZd and some of the VD parameters showed a significant correlation with BP (p < .05). CONCLUSION: Acute anaerobic exercise seems not to alter either mean VD in retina and choroid or CMT and SFCT. Among OCTA parameters, only FAZd decreased remarkably.

Management of ocular allergy.

The treatment and management of ocular allergy (OA) remain a major concern for different specialties, including allergists, ophthalmologists, primary care physicians, rhinologists, pediatricians, dermatologists, clinical immunologists, and pharmacists. We performed a systematic review of all relevant publications in MEDLINE, Scopus, and Web Science including systematic reviews and meta-analysis. Publications were considered relevant if they addressed treatments, or management strategies of OA. A further wider systematic literature search was performed if no evidence or good quality evidence was found. There are effective drugs for the treatment of OA; however, there is a lack an optimal treatment for the perennial and severe forms. Topical antihistamines, mast cell stabilizers, or double-action drugs are the first choice of treatment. All of them are effective in reducing signs and symptoms of OA. The safety and optimal dosing regimen of the most effective topical anti-inflammatory drugs, corticosteroids, are still a major concern. Topical calcineurin inhibitors may be used in steroid-dependent/resistant cases of severe allergic keratoconjunctivitis. Allergen-specific immunotherapy may be considered in cases of failure of first-line treatments or to modify the natural course of OA disease. Based on the current wealth of publications and on the collective experience, recommendations on management of OA have been proposed.

Posterior Corneal Steepening in Posterior Polymorphous Corneal Dystrophy.

PURPOSE: The aim was to evaluate the anterior and posterior corneal topographic characteristics of three patients with posterior polymorphous corneal dystrophy (PPCD) using a rotating Scheimpflug camera combined with a Placido disc system (Sirius, CSO, Italy). CASE REPORTS: Two children with unilateral PPCD and a 53-year-old woman with bilateral PPCD were diagnosed by the presence of vesicles and railroad track lesions at the level of the Descemet membrane with slitlamp biomicroscopy and in vivo confocal microscopy. Anisometropic and/or meridional amblyopia was detected in both children. In the 16-year-old child, there was unilateral anterior corneal steepening with high astigmatism (plano -7.00 x 170) in the eye with PPCD. The 5-year-old boy had unilateral axial myopia and against-the-rule corneal astigmatism (-12.00 -2.00 x 90). Corneal topography of the woman revealed with-the-rule astigmatism and thin corneas (464 µm OD and 445 µm OS) in both eyes. Posterior corneal steepening greater than 25 µm either in a vertical or in a horizontal pattern changing with the orientation of the railroad track band lesions was detected in all subjects. CONCLUSIONS: Besides anterior corneal changes, PPCD seems to cause posterior corneal elevation, which necessitates corneal tomographic evaluation. In unilateral or highly asymmetric cases, children with PPCD should be screened for amblyopia.

Bilateral acute iris transillumination following a fumigation therapy: a village-based traditional method for the treatment of ophthalmomyiasis.

Bilateral acute iris transillumination (BAIT) is a relatively new clinical entity characterized by bilateral acute loss of iris pigment epithelium, iris transillumination, pigment dispersion in the anterior chamber and atonic pupilla. We report herein a 50-year-old female who presented with bilateral ocular pain, severe photophobia and red eyes. One month ago, a fly hit her eye, and she instantly complained of a discomfort and sensation of a foreign body in both eyes. She used a fumigation therapy, a traditional method for the treatment of ophthalmomyiasis. During follow-up examinations, intraocular pressures increased over 40 mmHg bilaterally despite maximal medical therapy, which necessitated trabeculectomy surgery with mitomycin. This is a typical BAIT case with no antecedent fluoroquinolone use or viral disease, but a fumigation therapy. There might be a possible relationship between BAIT and traditional fumigation therapy or this association might be coincidental, both of which need further evaluation.

Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome.

GAPO syndrome (OMIM#230740) is the acronym for growth retardation, alopecia, pseudoanodontia, and optic atrophy. About 35 cases have been reported, making it among one of the rarest recessive conditions. Distinctive craniofacial features including alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, mid-facial hypoplasia, hypertelorism, and thickened eyelids and lips make GAPO syndrome a clinically recognizable phenotype. While this genomic study was in progress mutations in ANTXR1 were reported to cause GAPO syndrome. In our study we performed whole exome sequencing (WES) for five affected individuals from three Turkish kindreds segregating the GAPO trait. Exome sequencing analysis identified three novel homozygous mutations including; one frame-shift (c.1220_1221insT; p.Ala408Cysfs*2), one splice site (c.411A>G; p.Gln137Gln), and one non-synonymous (c.1150G>A; p.Gly384Ser) mutation in the ANTXR1 gene. Our studies expand the allelic spectrum in this rare condition and potentially provide insight into the role of ANTXR1 in the regulation of the extracellular matrix.

Effect of religious fasting on tear osmolarity and ocular surface.

OBJECTIVE: To evaluate the effects of religious fasting on tear secretion, tear osmolarity, corneal topography, and ocular aberrations. METHODS: This prospective controlled study comprised 29 eyes of 29 healthy men. Before ophthalmologic examination, all subjects underwent corneal topography by a placido disc corneal topography and aberrometry device (OPD Scan II). Tear osmolarity was measured using OcuSense TearLab osmometer. Ocular surface disease index (OSDI) scores, tear break-up time (BUT), Schirmer I test, and lissamine green staining were evaluated. The measurements taken before and during Ramadan at the same hours between 4.00 and 5.00 PM were compared using paired sample t test, and a P value less than 0.05 was accepted as statistically significant. RESULTS: The mean age of the study group was 27.8 ± 5.9 years (range, 20-47 years). The mean tear osmolarity values were measured as 285.6 ± 8.2 mOsm/L and 293.3 ± 16.0 mOsm/L, whereas the mean Schirmer I values were 14.8 ± 6.0 mm and 10.6 ± 5.3 mm in nonfasting and fasting periods, respectively. Tear osmolarity, OSDI, and Oxford grading scores significantly increased (P=0.02, P=0.002, P=0.003, respectively), whereas Schirmer I values and intraocular pressure decreased (both, P<0.001) during the fasting period compared with the nonfasting period. There were no significant differences in tear BUT, keratometry values, and corneal aberration measurements between nonfasting and fasting periods (P>0.05, for all). CONCLUSION: Fasting significantly decreases tear production and increases tear osmolarity; however, it does not deteriorate corneal topographic parameters and ocular aberrations in healthy subjects.

Extensive bone formation in a painful blind eye.

Osseous metaplasia may occur in phthisis bulbi, usually caused by long-standing retinal detachment, ocular trauma, or inflammation. However, extensive intraocular bone formation is a rare phenomenon. We report a case with long-standing phthisis bulbi demonstrating subretinal extensive bone formation. Results of histopathologic examination revealed extensive bone formation overlying the choroid with accompanying bone marrow without hematopoiesis.

A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.

BACKGROUND: Juvenile-onset open-angle glaucoma (JOAG) is a rare form of primary open-angle glaucoma (POAG) with an early age of onset before 40 years. Latent transforming growth factor-beta binding protein 2 (LTBP-2) is an extracellular matrix protein with a multi-domain structure and homology to fibrillins. LTBP2 gene variants have been associated with JOAG in a small number of patients. Herein, we report a novel missense variant in the LTBP2 gene in a Turkish family with JOAG. MATERIALS AND METHODS: Blood samples were obtained from three siblings (a 20-year-old woman with JOAG, 26-year-old man with JOAG, and 15-year-old girl with posterior embryotoxon) for genetic analysis. Their father had moderate-severe POAG and the 24-year-old brother had JOAG. The mother and 32-year-old sister were healthy. Although the parents reported no consanguinity, they come from the same village. RESULTS: Clinical exome sequencing analysis of the two siblings with JOAG revealed a novel c.607C>T p.(R203C) (rs777450651) homozygous LTBP2 variant, while the variant was heterozygous in their 15-year-old sister. There were no mutations in the MYOC, CYP1B1, or FBN1 genes. CONCLUSION: We documented a novel missense mutation in the LTBP2 gene leading to a severe form of JOAG with refractory IOP and progressive optic nerve damage, which seems to show autosomal recessive inheritance.

Ocular Involvement in Patients with Infantile Nephropathic Cystinosis.

Cystinosis is a rare autosomal recessive lysosomal storage disease associated with high mortality and morbidity rates. The most distinctive ocular manifestations of cystinosis are photophobia, tearing, and blurred vision. Herein, we assessed the ocular involvement of four patients from two families diagnosed with infantile nephropathic cystinosis using optical coherence tomography (OCT) and in vivo confocal microscopy (IVCM). Anterior segment OCT demonstrated multiple hyperreflective punctate deposits, and IVCM revealed needle-shaped bright crystal deposits in the corneal stroma in all patients. Three patients also had crystal deposits in the epithelium, where epithelial cell disruption was observed. Crystal deposits around the subepithelial nerve plexus were noted in some sections. In one patient, round and needle-shaped bright deposits along with inflammatory cells were observed in the limbal region of the conjunctiva. Infrared fundus images of two female siblings revealed hyperreflective crystal-like deposits around the optic disc, macula, and peripheral retina, and enhanced depth imaging OCT showed accumulation of crystals in all layers of the retina.

A Novel COL2A1 Gene Pathogenic Variant in a Turkish Family With Ocular Stickler Syndrome.

A 6-month-old female infant with megalophthalmos was referred with the suspicion of congenital glaucoma. Refractive measurements obtained with handheld autorefractometry were -7.00 -2.00 × 90° in the right eye and -6.00 -2.00 × 100° in the left eye and ultrasonic axial lengths were 22.50 mm in both eyes. Intraocular pressures and vertical and horizontal corneal diameters of the proband were 11 mm Hg, 11 mm, and 11.50 mm in both eyes, respectively. She was diagnosed as having early-onset high myopia. Her father also had degenerative high myopia (-12.00 diopters) in the right eye, bilateral congenital lens opacities, and retinal detachment in the left eye. Her mother was emmetropic with normal eye examination results. Clinical exome sequencing analysis revealed a novel ENST00000380518.3 c.3528_3530 delins GACCATTAGCA (Chr12:48369813: GCA > TGCTAATGGTC) variant in the collagen type II alpha 1 chain (COL2A1) on chromosome 12q13 (OMIM 108300), consistent with the Stickler syndrome type 1. Subsequent segregation analysis revealed paternal inheritance. Although many pathogenic null variants have been described within the COL2A1 gene, there is currently no documented literature pertaining to this specific variant, making this the inaugural report of its manifestation in scientific discourse. [J Pediatr Ophthalmol Strabismus. 2024;61(3):e23-e27.].

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings of Patients with Iridocorneal Endothelial Syndrome

This case report aims to present the findings of in vivo confocal microscopy (IVCM) and anterior segment optical coherence tomography (AS-OCT) in three patients with iridocorneal endothelial (ICE) syndrome. Three female patients 37, 50, and 57 years of age presented with complaints of unilateral visual impairment and elevated intraocular pressure (IOP). Biomicroscopy revealed unilateral pupil irregularities and anterior synechiae, and gonioscopy demonstrated synechiae in the iridocorneal angle. IOP was within normal limits with medical treatment in two patients, while one patient had an IOP of 44 mmHg despite maximal antiglaucomatous treatment. IVCM revealed large, polymorphic, and hyperreflective cells in the corneal endothelial layer of the affected eyes and normal corneal epithelium, stroma, and endothelium in the fellow eyes. AS-OCT findings were normal in healthy eyes, while the affected eye showed synechiae in the iridocorneal angle and a hyperreflective, thickened endothelial layer. The patient with refractory glaucoma underwent trabeculectomy surgery with 5-fluorouracil. In conclusion, IVCM and AS-OCT allow a detailed examination of endothelial cell abnormalities and iridocorneal membranes in ICE syndrome, which is characterized by unilateral pupil and iris irregularities and anterior synechiae mainly in women.

GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer.

This article reports on the ophthalmological features of four Turkish children with GAPO syndrome, a very rare autosomal recessive condition characterized by growth retardation (G), alopecia (A), pseudoanodontia (P) (failure of tooth eruption), and optic atrophy (O). The children were from two unrelated families born to consanguineous parents. They had the characteristic facial appearance of alopecia, rarefaction of eyebrows and eyelashes, frontal bossing, high forehead, midfacial hypoplasia, hypertelorism, and thickened eyelids and lips. Two children had severe end-stage glaucoma in both eyes and unilateral corneal opacity, whereas other two children had myelinated retinal nerve fiber layer; one with bilateral optic atrophy and the other one with persistent pupillary membrane in the left eye.

Ocular surface disorders in intensive care unit patients.

Patients in intensive care units (ICU) are at increased risk of corneal abrasions and infectious keratitis due to poor eyelid closure, decreased blink reflex, and increased exposure to pathogenic microorganisms. The aim of this retrospective study was to evaluate the ocular surface problems in patients who stayed in ICU more than 7 days and were consulted by an ophthalmologist. There were 26 men and 14 women with a mean age of 40.1 ± 18.15 years (range 17-74 years). Conjunctiva hyperemia, mucopurulent or purulent secretion, corneal staining, and corneal filaments were observed in 56.25%, 36.25%, 15%, and 5% of the eyes, respectively. Keratitis was observed in 4 patients (10%) who were treated successfully with topical antibiotics. Mean Schirmers test results were 7.6 ± 5.7 mm/5 min (median 6.5 mm/5 min) in the right, and 7.9 ± 6.3 mm/5 min (median 7 mm/5 min) in the left eyes. Schirmers test results were <5 mm/5 min in 40% of the subjects. The parameters did not show statistically significant difference according to mechanical ventilation, sedation, and use of inotropes. As ICU patients are more susceptible to develop dry eye, keratopathy, and ocular infections, they should be consulted by an ophthalmologist for early diagnosis of ocular surface disorders.

Anterior Segment Swept Source Optical Coherence Tomography and In Vivo Confocal Microscopy Findings in a Case With Bleb-Like Epithelial Basal Membrane Dystrophy.

PURPOSE: The aim of this study was to evaluate the anterior segment swept source optical coherence tomography (SS-OCT) and in vivo confocal microscopy (IVCM) features in a patient with bleb-like epithelial basement membrane dystrophy (EBMD). METHODS: A 67-year-old man was referred to the hospital for recurrent attacks of severe ocular pain, tearing, and photophobia, typically upon awakening in the right eye. Biomicroscopic examination revealed pebbled glass-like appearance in the corneal epithelium which was remarkable with retroillumination and the patient was suspected to have bleb-like EBMD. The cornea was further evaluated using SS-OCT DRI Triton (Topcon, Tokyo, Japan) and IVCM (Heidelberg Retina Tomograph 3, Rostock Cornea Module). RESULTS: Using anterior segment SS-OCT, multiple, hyporeflective, round-oval structures within the size range of 30 to 90 µm were observed at the basal epithelial level. IVCM showed circular or oval hyporeflective areas with a diameter ranging from 30 to 140 µm at the level of the basal epithelium in a depth of 35 to 40 µm from the corneal surface and hyperreflective linear structures extending into the corneal epithelium. The corneal stroma was normal, while a few round hyperreflective deposits and guttae were noted at the endothelial cell layer. CONCLUSIONS: Anterior segment SS-OCT and IVCM can be used in the diagnosis of bleb-like EBMD and are very helpful in differentiating from other epithelial/subepithelial corneal dystrophies and cystic disorders of the corneal epithelium.

Clinical Performance and Patient Satisfaction of Hybrid Contact Lenses in Patients with Keratoconus.

Objectives: The aim of the study was to evaluate the fitting process, clinical performance, and patient satisfaction of hybrid contact lenses (HCL) in patients with keratoconus (KC). Materials and Methods: Sixty-eight KC patients (35 female, 33 male) who were prescribed HCL were included in the study. Corneal topographic parameters, best corrected visual acuity (BCVA) with eyeglasses, the number of HCL trials, prescribed HCL base curve (BC), and visual acuity with HCL were recorded from hospital records. A contact lens satisfaction survey was sent to the patients via email or WhatsApp and the data was statistically analyzed using IBM SPSS Statistics version 22.0. Results: The study included 110 eyes of 68 patients with a mean age of 27.34±8 years (range: 12-48 years). According to the Amsler-Krumeich classification, 35.5% of the eyes were stage 1, 50.9% were stage 2, and 13.5% were stage 3 or 4. Mean K1, K2, and Kmean values were 7.14±0.50 mm (range 5.72-8.30 mm), 6.63±0.49 mm (range 5.07-7.84 mm), and 6.89±0.48 mm (range 5.39-8.06 mm), respectively. The average number of lens trials was 1.59±0.82 (range 1-4). The mean BC of the prescribed HCL was 6.84±0.50 mm (range 5.60-8.00 mm). BCVA with glasses was 0.36±0.2 (range 0.05-0.8), and 0.80±0.14 (range 0.3-1.0) with HCL (p<0.0001). The overall survey score was 3.54 out of 5, the overall satisfaction score was 3.27, the average vision satisfaction score was 3.62, the average satisfaction score for lens insertion and removal was 3.01, and the average satisfaction score for lens comfort was 2.97. Conclusion: Prescribed HCL BC is usually close to the topographic Kmean value and in most of the patients, fitting was successful with the first or second CL trial. The overall satisfaction score was moderate to good and the disadvantages were low comfort compared to soft CL, difficulty with insertion and removal, short lens life, and high cost.

Diagnosis of Immunoglobulin G4-related disease in a child with ligneous conjunctivitis: a novel mutation in plasminogen gene and plasminogen activator inhibitor-1 polymorphism.

OBJECTIVES: Ligneous conjunctivitis (LC) is a chronic conjunctivitis characterized by recurrent, firm, fibrin-rich, woody pseudomembranes on the palpebral conjunctiva. It is an ultrarare autosomal recessive disease associated with congenital plasminogen (PLG) deficiency due to mutations in the PLG gene (6q26). Immunoglobulin G4-related disease (IgG4-RD) is an idiopathic, systemic fibroinflammatory disease characterized by elevated serum IgG4 concentration and tissue infiltration of IgG4-positive plasma cells leading to organ enlargement, fibrosis and damage. CASE REPORT: A 7-year-old girl with LC was hospitalized for recurrent pancreatitis and diagnosed as IgG4-RD. PLG activity level was 15% (normal range 55-145%). Co-segregation analysis indicated that the patient was homozygous for the c. NG_016200.1(NM_000301.5):c.1465 T>C mutation in PLG gene. c. NG_016200.1(NM_000301.5):c.1465 T>C PLG variant was found to be heterozygous by NGS analysis in both parents. She also had plasminogen activator inhibitor - 1 (PAI-1) NG_013213.1(NM_000602.5):c.-816A>G (4G/4G) homozygous polymorphism and a heterozygote NG_001333.2 (NM_002769.5):c.292_293insC mutation in the serine protease 1 (PRSS-1) gene. However, heterozygous PRSS-1NG_001333.2 (NM_002769.5):c.292_293insC variant was found in the mother of the patient. All detected variants are currently considered as a variant of uncertain (or unknown) significance (VUS) according to the American College of Medical Genetics and Genomics (ACMG) classification. Oral steroid, oral azathioprine, topical fresh frozen plasma, topical heparin, topical steroid and topical cyclosporine were given. After 3 years of follow-up, IgG4-RD is under partial remission and no pseudomembranes. CONCLUSION: She is the second case had both LC and IgG4-RD. We identified a NG_016200.1(NM_000301.5):c.1465 T>C novel homozygous mutation in PLG gene and a PAI-1 NG_016200.1(NM_000301.5):c.1465 T>C (4G/4G) homozygous polymorphism, which has been reported as a risk factor for thrombotic events.

Association of tumour necrosis factor-alpha -308 G/A polymorphism with primary open-angle glaucoma.

BACKGROUND: Tumour necrosis factor-alpha (TNF-α) is an important proinflammatory cytokine driving axonal degeneration and retinal ganglion cell apoptosis in glaucoma. The aim of the study was to evaluate the association of TNF-α -308 G/A and -238 G/A polymorphisms with primary open-angle glaucoma (POAG). DESIGN: A prospective, case-control study, university hospital setting. PARTICIPANTS: Eighty-six POAG patients and 193 healthy unrelated controls. METHODS: TNF-α polymorphisms were screened by using direct gene sequencing. MAIN OUTCOME MEASURES: Frequency of TNF-α -308 G/A and TNF-α -238 G/A promoter polymorphisms in glaucoma and healthy subjects. RESULTS: The frequencies of TNF-α -308 GA genotype and 'A' allele were higher in patients with POAG (22.1% and 12.2%, respectively) in comparison with the control group (10.9% and 6%, respectively) (P = 0.046 and 0.02, respectively), with odds ratios of 2.45 (P = 0.01, 95% CI = 1.23-4.87) and 2.19 (P = 0.013, 95% CI = 1.18-4.08), respectively. Genotype distribution of the TNF-α -238 variants did not yield a statistically significant difference between the two groups (P = 0.87). CONCLUSION: TNF-α -308 G/A polymorphism seems to be associated with POAG in Turkish population. However, population-based studies with large number of subjects and long-term follow-up are needed to verify the association of TNF-α -308 G/A polymorphism with glaucoma susceptibility.