Novel TEAD1 gene variant in a Serbian family with Sveinsson's chorioretinal atrophy.

Sveinsson's chorioretinal atrophy (SCRA) or helicoidal peripapillary chorioretinal degeneration (HPCD) as previously referred, is a rare ocular disease with autosomal dominant pattern of inheritance. The vast majority of reported cases were of Icelandic origin but the characteristic clinical picture of SCRA was also described in patients of non-Icelandic descent. Here, we report a novel disease-causing variant c.1261T>A, p.Tyr421Asn in TEAD1, detected in a Serbian family from Bosnia diagnosed with SCRA. The newly discovered change occurred at the same position as the "Icelandic mutation" (c.1261T>C, p.Tyr421His). According to our findings, this position in the exon 13 of the TEAD1 gene, at base pair 94, should be considered as a mutation hotspot and a starting point for future genetic analyses of patients with SCRA diagnosis.

Vitreous concentrations of vascular endothelial growth factor as a potential biomarker for postoperative complications following pars plana vitrectomy.

INTRODUCTION: The aim of the study was to investigate the effects of vascular endothelial growth factor (VEGF) concentration in vitreous on postoperative complications after pars plana vitrectomy (PPV). MATERIAL AND METHODS: Ninety subjects were surgically treated with PPV and followed up for 12 months at the Clinical Centre University Sarajevo, Clinic for Eye Disease. Exclusion criteria were presence of other eye diseases, systemic acute/chronic inflammatory conditions, or malignant neoplasms; previously performed PPV surgery; previously received intravitreal or systemic anti-VEGF therapy. A vitreous sample was obtained while performing the PPV procedure, using the Quantikine ELISA test to determine VEGF level, as a risk factor. Outcome measures were intraoperative and postoperative complications reported using categorical data: blunt and sharp dissection of membranes, intraoperative hemorrhage stopped by increasing infusion pressure, pressing with blunt instrument, or using diathermy. The following postoperative complications were assessed on the first day and at the 12-month follow-up visit: vitreous hemorrhage, fibrovascular proliferation (FVP), rubeosis iridis, and neovascular glaucoma (NVG). RESULTS: Levels of vitreous VEGF at the time of PPV were significantly higher in eyes with: vitreous hemorrhage on the first day after PPV (p = 0.003); FVP on the first day and 12 months after PPV (p = 0.002 and p < 0.001, respectively); iris rubeosis on the first day and 12 months after PPV surgery (p < 0.001, and p = 0.001, respectively); NVG on the first day and 12 months after PPV surgery (p = 0.043 and p = 0.011, respectively), compared to the eyes without complications. CONCLUSIONS: Preoperative levels of VEGF in vitreous can be a useful biomarker and predictor of the postoperative outcome in terms of intraoperative and postoperative complications.

Intraocular Pressure Measurements Referring to the Corneal Thickness in Keratoconic Eyes After Corneal Crosslinking with Riboflavin and Ultraviolet A.

AIM: To determine the possible relation between intraocular pressure (IOP), central corneal thickness (CCT) and corneal resistance (CR) in kerotoconic eyes before, 3,6 and 12 months after collagen crosslinking procedure (CXL) with aim to find out does the thicker cornea means already more resistance cornea followed with higher IOP. METHODS: Thirty eyes (30 patients) with central keratoconus (KC)were evaluated in retrospective cross sectional study. The corneal biomechanical parameters were taken with Wave Light Allegro Oculyzer produced by Alcon before the CXL, 3, 6 and 12 months after the procedure. IOP were checked by Goldmann applanation tonometry (GAT) before, 3, 6 and 12 months after CXL. RESULTS: The value of IOP before the CXL was 12,0 mmHg (10,62-15,25 mmHg), 3 months later 13,5 mmHg (11,0-16,0 mmHg), 6 months 14,0 mmHg (11,0-16,0 mmHg) and 12 months later 15,0 mmHg (10,37-17,25 mmHg) and was statistically significant higher (p=0,015) comparing to the value of IOP 3 months after the CXL, IOP 12 months after CXL procedure was statistically significant higher comparing to preoperative values (p=0,010). There were no statistically significant difference between the values 3 and 6 months after CXL. The CCT before the CXL procedure was 449 (433-505,75 microns), 3 months after CXL was 420 (383-473microns, p < 0,005), 6 months later 437 (401,25-480,25, p=0,001), 12 months after CXL 437 (401-503 microns, p=0,001). However there is statistically significant difference in CCT 12 months after CXL 437 (401-503microns p=0,032) and the value of CCT 3 months later the procedure (p=0,004) and the CCT 12 months after CXL and the value of CXL 6 months after CXL (p=0,036). The value of CCT did not show any statistically significant difference 3 and 6 months postoperatively. CONCLUSION: After riboflavin-UVA CXL in eyes with KC there was significant decrease in central corneal thickness 3 and 6 months after the procedure and the thickness is almost the same 12 months later. However IOP is low before CXL, raising up 3 and 6 months after CXL but significant increase is seen 12 months later. It means the regular measurement of IOP could be the serious and confident indicator of increasing of corneal resistance which is the main goal of CXL treatment.

Assessment of the tomographic values in keratoconic eyes after collagen crosslinking procedure.

GOAL: This study aimed to investigate the differences in values of K1 and K2 readings, the central corneal thickness (PAH) before the collagen crosslinking procedure (CXL) and 3, 6, 12 months later. METHODS: 64 eyes were evaluated in retrospective cross sectional study. The corneal biomechanical parameters were taken with WaveLight Allegro Oculyzer produced by Alcon before the CXL, 3,6, 12 months after the procedure. The curvature of K1 reading and K2 reading were taken and the central corneal thickness were considered due to the time after CXL. RESULTS: The value of K1 reading before the treatment was 48.8 diopters (D) (46.65-50.50) and was statistically significant lower comparing to the value of K1 3 months after the collagen CXL procedure 46.30 D (43.57-49.45) (p=0.0006), K1 reading one year post collagen CXL procedure was 47.20 D (44.35-50.07) (p=0.002). The value of K2 reading before the collagen CXL procedure was 52.65 D (47.55-54.72), 3 months after the procedure was 51.4 (45.05-54.0), 6 months later 48.55 D (47.20-50.62), 12 months later 51.30 D (47.22-54.77). There is statistically significant lower value of K2 reading 6 months after the treatment comparing to the values 3 months postoperatively (p=0.014). However there is significantly lower values of K2 reading 12 months postoperatively comparing to preoperative period (p=0.006). The value of central corneal thickness preoperative was 431.0 microns (398.0-446.25), 3 months after collagen CXL procedure was 373.50 microns (363.25-430.75), 6 months later 435.0 microns (360.0-464.75), 12 months after the CXL procedure was 429.50 microns (357.75-496.25). There is statistically significant lower values of central corneal thickness 3 months after collagen CXL treatment comparing to the central corneal thickness preoperative (p<0.005). There is statistically significant lower values of pachymetry 12 months after the CXL procedure comparing to the values 6 months later (p=0.036) and those preoperativelly (p=0.032). There is no statistically significant difference in the values of central corneal thickness in the period from 3 and 6 months postoperatively. CONCLUSION: After riboflavin-UVA CXL in eyes with keratokonus there was significant decrease in central corneal thickness 3 and 6 months after the procedure and the thickness is almost the same 12 months. However, K2 (Kmax) reading is significantly changed 3 and 6 months later and is followed by changing of K1 reading.

Analysis of the influence of type of diabetes mellitus on the development and type of glaucoma.

AIM: Main the goal of the research is to analyze the occurrence of glaucoma in patients with diabetes mellitus type 1 (DM type 1) and diabetes mellitus type 2 (DM type 2). PATIENTS AND METHODS: The study involved 140 patients, 34 with DM type 1 and 106 with DM type2. In relation to the type of glaucoma to the patients are divided into two groups: Primary and Secondary glaucoma. According to the stage of diabetic retinopathy (DR) patients were analyzed in three groups: non-proliferative, preproliferative and proliferative DR. Since ophthalmological parameters were analyzed: best corrected visual acuity (BCVA), intraocular pressure (IOP), visual field (VF) of computerized perimetry, excavatio optic nerve (E/D) by optic coherent tomography (OCT). RESULTS: Applying the test of quotient chance found that subjects with DM type 1 have a 5.94 times greater chance of developing secondary glaucoma, but is of primary (P <0.0001). In patients with DM type 2, where the chance of getting the subjects of secondary glaucoma 4.43 times larger than that of the primary (P = 0.0002). CONCLUSION: Patients with DM type have great chance of developing secondary glaucoma of the primary. Primary glaucoma more common in NPDR but secondary glaucoma more common in PDR.

Morphological and functional outcome of scleral buckling surgery compared to primary vitrectomy in patients with retinal detachment.

BACKGROUND/AIM: Among the proposed operative techniques for retinal detachment (RD) the most commonly applied are classical method with scleral buckling and pars plana vitrectomy (PPV). The aim of this paper was to determine which surgical intervention of these two leads to better morphological results in terms of the applied retina and better functional outcomes in terms of visual acuity (VA) of the operated eye in patients with RD. METHODS: A retrospective study on the comparative section of the effects of scleral buckling surgery and PPV in uncomplicated rhegmatogenous RD was performed. In a 2-year period 97 patients, i.e. 98 eyes with RD were operated on (68 eyes with scleral buckling surgery vs 30 by PPV). RESULTS: In the group with classically operated detachment, the retina was applied in 52 (76.5%) cases vs 30 (100%) patients in PPV group (p < 0.05). Postoperative VA in logMAR was significantly better in both groups compared to preoperative VA: in the classically operated was 1.89 ± 1.04 preoperatively vs 0.98 ± 0.70 postoperatively, while in the PPV group, preoperative value was 2.56 ± 0.67 vs 1.31 ± 0.74 postoperatively (p = 0.001). CONCLUSION: PPV in uncomplicated forms of RD gives better anatomical results than scleral buckling surgery. VA was significantly improved in both observed groups, while its mean value was postoperatively better in the group that was operated with the classical method. The reason for this could be due to better VA in baseline in the scleral buckling surgery group.

Correlation Between the Findings of Optical Coherent Retinal Tomography (OCT), Stereo Biomicroscopic Images from Fundus of an Eye and Values from Visual Acuity of Diabetic Macular Edema.

INTRODUCTION: Diabetic maculopathy is the major cause of reduced visual acuity in patients with non-proliferative diabetic retinopathy and occurs on average in 29% of patients who have diabetes for 20 or more years. AIM: The aim of this study is to re examine the correlation between the findings of optical coherence retinal tomography, stereo bio-microscopic images from fundus of an eye and values from visual acuity of diabetic macular edema. In addition, the aim is to show the importance of various ophthalmic tests for establishing diagnosis in time. MATERIAL AND METHODS: The research sample consisted of 90 subjects-patients from Cabinet for photographic documentation, fluorescein angiography and laser photocoagulation in Department of Ophthalmology at the University Clinical Centre in Sarajevo. The study was a one-year long, prospective, clinical study. RESULTS: Research has shown a positive correlation between the various tests that are applied for the diagnosis of diabetic macular edema. Accurate and early diagnosis is of great importance for the treatment in time of this disease by applying laser photocoagulation, intravitreal injections of Anti-VEGF drugs or surgical treatment by Pars Plana Vitrectomy.

Predictive Values of Optical Coherence Tomography (OCT) Parameters in Assessment of Glaucoma progression.

GOAL: the purpose of the current study was to estimate the predictive values of optical coherence tomography parameters in early, developed perimetric and terminal glaucoma. METHODS: 180 eyes of 120 consecutive patients were evaluated in this retrospective cross sectional pilot study. Copernicus Spectral -domain optical coherence tomography with resolution of 3 mm obtained throught the optic nerve head were included. All examined eyes were divided to four groups (healthy,early, developed perimetric glaucoma and terminal glaucoma). The values of the thicknes of the retinal nerve fibre layer, the size of the disk, the volume of the cup, the E/D parameter and the size of the RIM were compared in four study groups. RESULTS: The sensitivity of RNFL was 90,0%, specificity 82,0 %, positive predictability 83,3 % and negative predictability was 89,1 %. The total accuracy was 86,0 % and area under curve (AUC) was 0,878 for RNFL indeks compering early to developed glaucoma. The sensitivity for CUP was 78%, the specificity was 80,8 %, the positive predictability 81,2% and the negative predictability was 77,5 %. The total accuracy was 79,3 % and area under curve (AUC) was 0,86 compering early to developed glaucoma. The sensitivity for E/D was 82,0%, the specificity was 82,9 % the positive predictability 83,7 % and the negative predictability was 81,3 %. The total accuracy was 82,5 % and area under curve (AUC) for E/D was 0,89 compering eearly to developed glaucoma. The sensitivity for RIM was 78,0%, the specificity was 76,6 %, the positive predictability was 84,7 and the negative predictability was 67,7 %. The total accuracy was 77,5 % and area under curve (AUC) for the RIM compering the developed to terminal glaucoma was 0,792. The sensitivity of RNFL was 88,0 %, the specificity was 66,7 %, the positive predictability was 81,5% and the negative predictability was 76,9%. The total accuracy was 80,0% and the area under curve (AUC) for RNFL compering developed to terminal glaucoma was 0,815. The incrreasing 0,1 unit RNFL decreases the risk of developing glaucoma from early to another developed stage of glaucoma for 6,95%. The increasing of E/D for only one unit increases the risk to develop another stage of glaucoma for 18,75 times. The increasing of RNFL for only one unit decreases the risk of performing developed glaucoma from initial stage for 7,8%. The increasing for only one unit of CUP increases the risk to develop terminal glaucoma for 8,47 times and increasing for 0,1 unit of the value of RIM decreases the risk developing terminal glaucoma for 9,27%. The increasing for 0,01 unit of the E/D index increases the risk for terminal glaucoma for 23,23 times. The increasing for one unit of RNFL decreasing the risk developing terminal glaucoma for 5,7%.

Therapeutic modalities of exudative age-related macular degeneration.

INTRODUCTION: Age-related macular degeneration (AMD) is a leading cause of irreversible serious vision damage in persons over 50 years of age. In treating AMD many medicaments are applied such as inhibitors of vascular endothelial growth factor (VEGF), have been very carefully included over the last few years after a series of study research. AIMS: To analyze the past methods of treatment, discuss emerging therapies which could advance the treatment of exudative AMD. The past anti-VEGF therapies require frequent repetitions of administration, with uncertain visual acuity recovery, as not all patients react to anti-VEGF therapy. Consequently, there is a need to find out additional therapies which could improve the treatment of exudative AMD. The real aim in the treating of AMD is to prevent CNV development. METHODS: A survey of the current clinical research and results in the field of the present and future treatments of exudative AMD. RESULTS: There are many areas of research into new methods of the exudative AMD treatment. CONCLUSION: The future therapies for exudative AMD treatment have a potential not only to reduce the frequency of administration and follow-up visits, but also to improve effects of treatment by targeting additional ways of CNV development, increasing the aptitude of target binding and extending durability of treatment.

Correlation between retinal nerve fiber layer and disc parameters in glaucoma suspected eyes.

GOAL: The aim of the study was to estimate the diagnostic accuracy of optical coherence tomography parameters in normal, preperimetric, developed perimetric and terminal glaucoma. METHODS: 180 eyes of 140 consecutive patients were evaluated in this retrospective cross sectional pilot study. Copernicus Spectra--domain optical coherence tomography with resolution of 3 mm obtained through the optic nerve head were included. All examined eyes were divided into four groups (healthy eyes, initial, preperimetric glaucoma, developed perimetric glaucoma and terminal glaucoma). RESULTS: The highest value of the RIM is noticed in control group 1.44 (1.21-1.70). There is no significant difference in the size of the disc in the eyes with developed open angle glaucoma (1.80 +/- 0.66) compared to normal eyes (p = 0.663), to the eyes with initial glaucoma (p = 0.120), and terminal glaucomatous atrophy (p = 0.068). There is statistically importance of E/D parameter in healthy group 0.17 (0.04-0.27), early glaucomatous group 0.44 (0.35-0.51), developed glaucoma 0.47 (0.39-0.61) respectively p < 0.005. The volume of cup was significantly greater in the eyes with terminal glaucomatous atrophy 1.05 (0.85-1.4) compared to the healthy eyes 0.31 (0.06-0.51) (p < 0.005), significantly greater to initial glaucoma 0.84 (0.58-1.12) (p = 0.007) and significantly higher compared to developed glaucoma 0.82 (0.62-1.07) (p = 0.003). There is no significant difference in the cup between the eyes with early and developed glaucoma (p = 0.912). The eyes with terminal glaucoma had significant lower value of the thickness of retinal nerve fiber layer 56.50 (45.50-71.25) compared to developed glaucoma group 82.5 (72-95.75), initial glaucoma 110.50 (102-123) and healthy eyes 132 (119-150) (p < 0.005). CONCLUSION: The SD-OCT scanning should be used to quantify optic nerve head anatomy in human eyes. The changes can be recognized and can indicate as important risk factor in considering glaucoma changes. It also should be considered as an exact model of glaucoma pathology.

Therapeutic Modalities of Exudative Age-related Macular Degeneration.

INTRODUCTION: Age-related macular degeneration (AMD) is a leading cause of irreversible serious vision damage in persons over 50 years of age. In treating AMD many medicaments are applied such as inhibitors of vascular endothelial growth factor (VEGF), have been very carefully included over the last few years after a series of study research. AIMS: To analyze the past methods of treatment, discuss emerging therapies which could advance the treatment of exudative AMD. The past anti-VEGF therapies require frequent repetitions of administration, with uncertain visual acuity recovery, as not all patients react to anti-VEGF therapy. Consequently, there is a need to find out additional therapies which could improve the treatment of exudative AMD. The real aim in the treating of AMD is to prevent CNV development. METHODS: A survey of the current clinical research and results in the field of the present and future treatments of exudative AMD. RESULTS: There are many areas of research into new methods of the exudative AMD treatment. CONCLUSION: The future therapies for exudative AMD treatment have a potential not only to reduce the frequency of administration and follow-up visits, but also to improve effects of treatment by targeting additional ways of CNV development, increasing the aptitude of target binding and extending durability of treatment.