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.

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.

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).

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.

Prevalence of Ocular Surface Disease and Associated Risk Factors in Glaucoma Patients: A Survey Study of Ophthalmologists.

Objectives: This survey study of ophthalmologists investigated the prevalence and clinical manifestations of ocular surface disease (OSD) in glaucoma patients, assessment methods used, risk factors, glaucoma drugs considered responsible, and treatment approaches. Materials and Methods: A questionnaire prepared jointly by the Turkish Ophthalmological Association Cornea and Ocular Surface Society and Glaucoma Society using SurveyMonkey was sent to ophthalmologists via e-mail. The distribution of parameters was compared with chi-square test and p<0.05 was considered statistically significant. Results: Forty-five percent of the ophthalmologists reported that OSD was evident in least 25% of their patients. The most common symptom was redness (91.9%), while the most common ocular surface finding was conjunctival hyperemia (75.6%). The tests considered to be the most important in ocular surface assessment were ocular staining (38.7%) and tear film break-up time (TBUT) (21.9%). Ninety percent of the physicians stated that the main cause of OSD was benzalkonium chloride (BAC) in medications. Prostaglandin analogs and alpha-2 agonists were reported to be the most common medications causing OSD. In case of OSD, the ophthalmologists often switch to a glaucoma drug from a different group (38%), a non-preservative glaucoma drug (33.7%) or a drug with a preservative other than BAC (20.4%). Most physicians prescribed artificial tears (84.6%). Conclusion: In this cross-sectional survey study, ophthalmologists detected varying rates of OSD in glaucoma patients depending on chronic drug use and BAC exposure. Although ocular surface examination was performed by physicians, tests such as TBUT and ocular surface staining were rarely used. Detecting OSD in glaucoma patients and planning personalized treatment increase patient comfort, drug compliance, and treatment effectiveness. For this reason, it is important to prepare an algorithm for the management of comorbid OSD in glaucoma patients.

A new look at the safety and tolerability of prostaglandin analogue eyedrops in glaucoma and ocular hypertension.

INTRODUCTION: In the last 25 years, topical prostaglandin analogues (PGAs) have emerged to become first line and first choice therapeutic options in the management of glaucoma and ocular hypertension (OHT). Although the short-term efficacy and safety of PGAs has been extensively investigated, less is known about their long term safety and tolerability. This gap in current knowledge is clinically relevant, because treatment-related adverse events and long-term tolerability issues are key determinants of the overall success of long-term therapy and the final outcome of a lifelong, symptomless disease like glaucoma. AREAS COVERED: We include selected evidence pertaining to the safety and tolerability of available and emerging PGA formulations. We also outline PGA formulations with different concentrations of the active ingredient, different preservatives, and preservative-free (PF) options. EXPERT OPINION: Undoubtedly PGAs will continue to play a major role in the medical therapy of glaucoma and OHT. Despite extensive literature and prolonged clinical experience with these agents worldwide, a number of areas that warrant further research have been identified in the present review. Recently launched novel PGAs, or those still in development offer new opportunities and future challenges.

Associations with meibomian gland loss in soft and rigid contact lens wearers.

PURPOSE: This study aimed to evaluate the structural changes in meibomian glands (MGs) and meibomian gland dysfunction (MGD)-associated ocular surface alterations in contact lens (CL) wearers. METHODS: This prospective, multi-center, cross-sectional study included 44 soft CL wearers, 21 rigid CL wearers, and 26 healthy non-wearers. After completing the Ocular Surface Disease Index (OSDI) questionnaire, the participants were examined for lid margin abnormalities, tear breakup times, ocular surface staining, meibum quality and expressibility. Afterwards upper and lower eyelid meibography and Schirmer I test were performed. RESULTS: A total of 91 participants (64 females and 27 males) (91 eyes) were classified into three groups. The mean percentage of meibomian gland loss (PMGL) was 25.3 ±â€¯12.5 % in soft CL wearers, 34 ±â€¯13.4 % in rigid CL wearers, and 18.4 ±â€¯9.2 % in the control group. Mean OSDI score was higher in soft CL wearers (15.5 ±â€¯18) than in the control group (3.5 ±â€¯2.6) (p < 0.001) and the OSDI scores were correlated with mean PMGL in CL wearers (r = 0.411, p = 0.002, r = 0.588, p = 0.005, respectively). In soft CL wearers, the duration of CL use was the only predictive variable for mean PMGL in multivariate analysis. In a regression model including both CL groups, age and rigid CL material were predictive variables for mean PMGL. CONCLUSIONS: CL use may cause MGD and this effect may be more pronounced in rigid CL wearers. In soft CL wearers, the duration of CL use is an important variable associated with MG loss, and subjective symptoms may guide the prediction of MG loss in these cases.

Olfactory dysfunction in primary Sjogren's syndrome and its correlation with dry eye.

OBJECTIVE: To evaluate the olfactory function in primary Sjögren's syndrome (pSS) patients and investigate its correlation with dry eye parameters. METHODS: Thirty-eight pSS patients (49.47 ± 10.06 years) and 20 healthy volunteers (47.40 ± 8.92 years) were enrolled in the study. All participants underwent ENT and eye examinations including a modified Connecticut Chemosensory Clinical Research Center (CCCRC) test, tear break-up time (TBUT), ocular surface staining (OSS) and Schirmer test. The parameters were compared between the two groups using Student-t test, and Pearson test was used to evaluate the correlations. RESULTS: Mean Schirmer and TBUT values were 2.39 ± 1.48 mm/5 min and 3.66 ± 1.5 sec in pSS and 18.30 ± 6.16 mm/5 min and 14.60 ± 3.64 sec in healthy subjects (p < 0.001, both). There was a significant decrease in mean odour threshold, odour identification, CCCRC and VAS scores in the pSS group (p < 0.001). Dry eye parameters showed moderate correlations with CCCRC parameters (r = 0.4-0.6, p < 0.001) and olfaction VAS score (r = 0.4-0.75, p < 0.05). CONCLUSIONS: There is a mild clinical impairment in smell sense in patients with pSS which seems to be correlated with dry eye parameters. Therefore, smell complaints should be queried in pSS patients suffering from severe dry eye.

Evaluation of the effect of high-intensity interval training on macular microcirculation via swept-source optical coherence tomography angiography in young football players.

PURPOSE: This study was conducted to evaluate the effect of high intensity interval training (HIIT) on macular microcirculation, measured by swept source optical coherence tomography angiography (ss OCTA) in young football players. METHODS: Football players between 18-20 years old were included. After a detailed ophthalmological examination, physiological parameters, including height, body weight, body fat, systemic blood pressure, hematocrit values, oxygen saturation, and heart rate, were recorded. Intraocular pressure and ss OCTA parameters were measured one day before and the day after the high intensity interval training program using DRI OCT Triton (Topcon, Tokyo, Japan) between 11:00 am and 1:00 pm. RESULTS: Fifteen participants completed the study. All were males with a mean age of 18.1 ± 0.4 years. Systolic and diastolic blood pressure and oxygen saturation did not change significantly (P > 0.05), while hematocrit levels increased remarkably (P = 0.049) after the HIIT program. Heart rates and intraocular pressure decreased (P = 0.003, P = 0.017, respectively). There was a significant increase in the central vessel density in deep capillary plexus (before: 18.7 ± 3.8%, after: 21.1 ± 4.5%) and central vessel density in choriocapillaris (before: 54.5 ± 2.8%, after 56.9 ± 2.2%) (P = 0.02, P = 0.02, respectively), although no changes were observed in other ss OCTA or in the central macular thickness and subfoveal choroidal thickness. CONCLUSION: A 6 week, high intensity interval training program with three exercise sessions per week seems not to alter mean superficial vascular densities, deep foveal avascular zone, and superficial foveal avascular zones, central macular thickness, or subfoveal choroidal thickness, while the central deep vascular density and central choriocapillaris vascular density increased remarkably among ss OCTA parameters.

Treatment and protective effects of metalloproteinase inhibitors alone and in combination with N-Acetyl cysteine plus vitamin E in rats exposed to aflatoxin B1.

This study was conducted to investigate the effects of matrix metalloproteinase (MMP) inhibitors dexamethasone and minocycline administrations -both single and in combination with N-acetylcysteine (NAC) and vitamin E-on the tissue distribution and lethal dose (LD)50 of aflatoxin (AF)B1 in rats. We performed this study on male Wistar rats (8-10 weeks) in two phases. In the first phase, rats were administered dexamethasone (5 and 20 mg/kg) and minocycline (45 and 90 mg/kg), both as single treatments and in combination with NAC (200 mg/kg) and vitamin E (600 mg/kg); these treatments followed AFB1 administration (2 mg/kg). In the second phase, the therapeutic effect value (TEV) was calculated to determine the treatment effect on the LD50 level of AFB1. The tissue affinity of AFB1 from high to low was liver, kidney, intestine, brain, heart, spleen, lung, testis, and vitreous humor, respectively. Dexamethasone at the 20 mg/kg dose significantly reduced AFB1 concentrations in the plasma and the other tissues, except for the vitreous humor. The effects of minocycline on the plasma and tissue concentrations of AFB1 varied by dose and tissue. The combinations of dexamethasone or minocycline with NAC and vitamin E increased the AFB1 concentrations in the plasma and all tissues, except for vitreous humor and liver. In male rats, the LD50 value of AFB1 was 11.86 mg/kg. The TEV of dexamethasone (20 mg/kg) was calculated to be 1.5. Dexamethasone can be administered in repeated doses at ≥20 mg/kg to increase survival in AFB1 poisoning.

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.

Evaluation of Olfactory Function in Children With Vernal Keratoconjunctivitis.

BACKGROUND: Vernal keratoconjunctivitis (VKC) is a chronic, severe allergic disease of the conjunctiva, which mostly affects young males in early to mid-childhood. There is a high incidence of asthma, allergic rhinitis (AR) and eczema among patients with VKC. It is unknown if VKC patients have abnormal olfactory dysfunction, and if so, whether this is related to AR. OBJECTIVE: Our aim was to evaluate olfactory function in children with VKC, with and without comorbid AR, in comparison to healthy children without VKC. MATERIALS AND METHODS: Thirty-nine VKC patients and 32 healthy children were included in the study. After eye and ear, nose and throat (ENT) examination, acoustic rhinometry and modified Connecticut Chemosensory Clinical Research Center (CCCRC) tests were performed and the test results were compared between VKC and control groups and between VKC children with or without AR. A p value <0.05 was regarded as statistically significant. RESULTS: The VKC group included 25 males (64.1%) with a mean age of 11.13 ± 3.22 years, while the control group included 26 males (81.3%) with a mean age of 12.50 ± 2.13 years (p > 0.05 for both age and gender). Fourteen VKC patients (35.9%) had either positive prick test or elevated serum specific IgE levels against house dust mites and pollens. Mean odor thresholds did not differ between the two groups (p = 0.084), while mean odor identification and CCCRC score were statistically significantly lower in VKC group (6.00 ± 1.02 and 6.81 ± 0.75, respectively) compared to control group (7.06 ± 0.77 and 7.5 ± 0.41, respectively) (p < 0.05, both). Thirteen VKC patients had co-associated AR (33.3%). In VKC patients with AR, mean odor threshold and identification scores were even lower (5.31 ± 0.95 and 6.23 ± 0.78, respectively) (p < 0.05, both). CONCLUSION: Olfactory function was found to be mildly impaired in children with VKC, especially when co-associated with AR. Therefore, loss of smell should be asked as an extraocular symptom.

In Vivo Confocal Microscopy and Anterior Segment Optical Coherence Tomography Findings in Two Cases with Mucopolysaccharidoses

The mucopolysaccharidoses are a group of disorders caused by inherited defects in lysosomal enzymes resulting in widespread intracellular and extracellular accumulation of glycosaminoglycans. Due to the mucopolysaccharidoses subtype, glycosaminoglycans can be deposited in many organs and tissues including cornea. In this report, we presented in vivo confocal microscopy and anterior segment optical coherence tomography findings in a 39-year old man with Scheie syndrome and a 41-year old woman with Morquio syndrome (Heidelberg Retina Tomograph 3 Rostock module, Germany) and reviewed the literature. On in vivo confocal microscopy, there were multiple small and larger hyperreflective deposits in the epithelium, Bowman layer and anterior stroma and abnormally shaped, elongated keratocytes with hyporeflective round structures, which might be vacuoles in the anterior-mid stroma. In anterior segment optical coherence tomography images, accumulation of glycosaminoglycans deposits lead to an increased hypereflective appearance throughout the thickened cornea.

Investigation of TGFBI (transforming growth factor beta-induced) Gene Mutations in Families with Granular Corneal Dystrophy Type 1 in the Konya Region.

Objectives: Granular corneal dystrophies (GCD) are characterized by small, discrete, sharp-edged, grayish-white opacities in the corneal stroma. Among the genes responsible for the development of GCD, the most strongly related gene is transforming growth factor beta-induced (TGFBI), located in the 5q31.1 locus. Studies show that R124H in exon 4 and R555W in exon 12 are hot-spot mutations in the TGFBI gene that lead to GCD development. In this study, we aimed to investigate these two hot-spot mutations in exons 4 and 12 of the TGFBI gene and other possible mutations in the same regions, which code important functional regions of the protein, in Turkish families with GCD and to determine the relationship between the mutations and disease and related phenotypes. Materials and Methods: The study included 16 individuals diagnosed with GCD type 1 (GCD1), 11 of these patients' healthy relatives, and 28 unrelated healthy individuals. DNA was obtained from peripheral blood samples taken from each individual and polymerase chain reaction was used to amplify target gene regions. Genotyping studies were done by sequence analysis. Results: The R124S mutation in exon 4 of TGFBI was not detected in the patients or healthy individuals in our study. However, all individuals diagnosed as having GCD1 were found to be heterozygous carriers of the R555W mutation in exon 12 of TGFBI. This mutation was not detected in healthy family members or control individuals unrelated to these families. In addition, we detected the silent mutation F540F in exon 12 and c.32924 G>A substitution in an intronic region of the gene in a few patients and healthy individuals. Conclusion: Our study strongly supports the association of GCD1 with R555W mutation in exon 12 region of the TGFBI gene, as reported in the literature.

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.