Aland Island Eye Disease with Retinoschisis in the Clinical Spectrum of CACNA1F-Associated Retinopathy-A Case Report.

Aland island eye disease (AIED), an incomplete form of X-linked congenital stationary night blindness (CSNB2A), and X-linked cone-rod dystrophy type 3 (CORDX3) display many overlapping clinical findings. They result from mutations in the CACNA1F gene encoding the α1F subunit of the Cav1.4 channel, which plays a key role in neurotransmission from rod and cone photoreceptors to bipolar cells. Case report: A 57-year-old Caucasian man who had suffered since his early childhood from nystagmus, nyctalopia, low visual acuity and high myopia in both eyes (OU) presented to expand the diagnostic process, because similar symptoms had occurred in his 2-month-old grandson. Additionally, the patient was diagnosed with protanomalous color vision deficiency, diffuse thinning, and moderate hypopigmentation of the retina. Optical coherence tomography of the macula revealed retinoschisis in the right eye and foveal hypoplasia in the left eye. Dark-adapted (DA) 3.0 flash full-field electroretinography (ffERG) amplitudes of a-waves were attenuated, and the amplitudes of b-waves were abolished, which resulted in a negative pattern of the ERG. Moreover, the light-adapted 3.0 and 3.0 flicker ffERG as well as the DA 0.01 ffERG were consistent with severely reduced responses OU. Genetic testing revealed a hemizygous form of a stop-gained mutation (c.4051C>T) in exon 35 of the CACNA1F gene. This pathogenic variant has so far been described in combination with a phenotype corresponding to CSNB2A and CORDX3. This report contributes to expanding the knowledge of the clinical spectrum of CACNA1F-related disease. Wide variability and the overlapping clinical manifestations observed within AIED and its allelic disorders may not be explained solely by the consequences of different mutations on proteins. The lack of distinct genotype-phenotype correlations indicates the presence of additional, not yet identified, disease-modifying factors.

An Analysis of Optical Coherence Tomography Angiography (OCT-A) Perfusion Density Maps in Patients Treated for Retinal Vein Occlusion with Intravitreal Aflibercept.

AIM: The primary goal of this study was to evaluate the reduction in non-perfusion area and improvement in blood flow as well as the reduction in retinal edema on optical coherence tomography angiography (OCT-A) in patients with retinal vein occlusion treated with 2 mg intravitreal injections of aflibercept. MATERIAL AND METHODS: Fifty eyes of nine patients with central retinal vein occlusion (CRVO) and sixteen patients with branch retinal vein occlusion (BRVO), aged 50 to 75 years, were collectively analyzed as retinal vein occlusion (RVO). The following parameters were analyzed: superficial vessel density (VDSF), deep vessel density (VDD), flow area in the outer retina (FAOR), choriocapillaris flow area (FACC), non-flow area (NFA) and the foveal avascular zone (FAZ). RESULTS: OCT-A revealed a reduction in macular edema. The most significant change in central retinal thickness (CRT) was observed between measurement timepoint "5" and the baseline (46%). The non-flow area was also reduced. Following a significant decrease in superficial vessel density 30 days after the first dose of aflibercept, a non-significant increase was noted at the subsequent timepoints. An increase was also found in deep vessel density and choriocapillaris flow area. Improvements in the above OCT-A parameters resulted in increased retinal blood flow and improved visual acuity. CONCLUSIONS: Patients with retinal vein occlusion treated with 2 mg aflibercept exhibited reduced macular edema and FAZ, increased vessel density, improved blood flow, and better visual acuity.

Effect of a Dexamethasone Implant on Rheological Blood Parameters in Patients Treated for Retinal Vein Thrombosis.

Purpose: To assess the effect of the prolonged-release dexamethasone implant (Ozurdex) in patients with retinal venous thrombosis on blood rheological parameters and evaluate the impact on morphological and functional parameters. Methods: Prospective cross-sectional study involved 35 subjects treated with central retinal vein and vein branch occlusion with intravitreal dexamethasone implant and 35 healthy subjects in control group. Hematocrit, blood and plasma viscosity, erythrocyte aggregation amplitude (EAA), index (EAI), aggregation half-life time (EAT1/2), and erythrocyte deformability (ED) were evaluated. The best-corrected visual acuity (BCVA), central retinal thickness (CRT) and visual field (VF) were examined. All the parameters were examined at the baseline, 7 and 30 days after the treatment. The results were analyzed with correlation and regression and compared to the baseline values. Results: In the studied group, three hemorheological parameters improved as early as on the 7th day after the drug administration, and this improvement remained at a similar level on the 30th day. The EAA increased by 21.26% on day 7 and by 19.78% on day 30, the EAI decreased by 10.55% on day 7 and by 9.14% on day 30 and the EAT1/2 time increased by 38.50% on day 7 and by 31.02% on day 30. On day 7, the BCVA was improved by 1 row, CRT was reduced by 170.77 µm (24.49%), and the VF was improved by 9.8 dB (49.92%) compared to baseline parameters. On day 30, the BCVA was improved by three rows, CRT reduced by 244.68 µm (35.09%), and VF improved by 12.09 dB (61.59%). Conclusion: The intravitreal dexamethasone implant used in treating macular oedema in patients with RVO has a statistically significant effect on some rheological parameters of blood, reduction of CRT and clinical improvement in BCVA and VF.

Three-Month Results of Brolucizumab Intravitreal Therapy in Patients with Wet Age-Related Macular Degeneration.

The purpose of the study was to evaluate changes in best corrected visual acuity, central retinal thickness, area and flow in the neovascular membrane and to compare therapeutic outcomes from baseline in patients who received three doses of Beovu (brolucizumab) at three-month follow-up. MATERIAL AND METHODS: A prospective observational study conducted at the Prof. K. Gibinski University Clinical Center of the Medical University of Silesia in Katowice. Eight patients with exudative form of age-related macular degeneration (AMD) were observed. RESULTS: The mean best corrected visual acuity (BCVA) outcome increased with each subsequent visit. The mean central retinal thickness (CRT) result also improved (decreased) with each subsequent visit, except for the last measurement. A statistically significant change in neovascular membrane area was observed after the first injection. In further treatment, the membrane area underwent changes that were not statistically significant. A statistically significant change in neovascular membrane flow was demonstrated after the first and second injections. DISCUSSION: Our study confirmed the efficacy of brolucizumab in the treatment of patients with exudative AMD in terms of improvements in best corrected visual acuity (BCVA), central retinal thickness (CRT), neovascular membrane area, and neovascular membrane flow area.

Does the use of acetylsalicylic acid have an influence on our vision?

PURPOSE: Acetylsalicylic acid (ASA) is one of the most commonly used drugs in the world due to its anti-inflammatory, analgesic, and antipyretic properties. This review aims to describe the relationship between acetylsalicylic acid and age-related macular degeneration (AMD) - a chronic disease that causes deterioration of visual acuity and is one of the most common ophthalmological diseases these days. METHODS: Data presented in this review were collected from both research and review articles concerning ophthalmology and pharmacology. RESULTS: The results of the studies analyzed in this review are not unambiguous. Moreover, the studies are not homogenous. They differed from one another in terms of the number of patients, the age criteria, the ASA dose, and the duration of control period. The reviewed studies revealed that ASA therapy, which is applied as a protection in cardiovascular diseases in patients with early forms of AMD and geographic atrophy, should not be discontinued. CONCLUSION: On the basis of the present studies, it cannot be unequivocally said whether ASA influences people's vision and if people endangered with AMD progression or who are diagnosed with AMD should use this drug. It may increase the risk of AMD, but it can also reduce the risk of life-threatening conditions. The authors suggest that in order to avoid possible risks of AMD development, people who frequently take ASA should have their vision checked regularly.

Evaluation of the effectiveness and safety of glucocorticoids intravitreal implant therapy in macular edema due to retinal vein occlusion.

The purpose of this study was to evaluate the impact of intravitreal dexamethasone implant (Ozurdex) on macular morphology and functions in eyes with macular edema (ME) secondary to retinal vein occlusion. Efficacy outcomes of the treatment were best-corrected visual acuity (BCVA) and central retinal thickness (CRT). Safety outcomes were intraocular pressure and cornea endothelial cell density. The study was conducted by the prospective analysis on 36 patients (17 women and 19 men) aged 28-77 years (the average age was 58±15 years) treated with the injection of dexamethasone implant because of the persistent ME at the Department of Ophthalmology and Ophthalmology Outpatient Clinic of the University Centre of Ophthalmology and Oncology in Katowice. The studied group included 16 patients with central retinal vein occlusion (16 eyes), and 20 patients with branch retinal vein occlusion (20 eyes). We found a significant increase of BCVA after first, second, and third month of treatment. Six months after the treatment, BCVA decreased, although not significantly compared with the value obtained in the third month. Two months after the intravitreal implantation of dexamethasone delivery system, CRT was 338±163 µm and was significantly lower compared with pretreatment value. Between third and sixth month after the treatment, we found insignificant increase of CRT compared with thickness observed in second month. Two months after the treatment, we found an increase in intraocular pressure in 36% of cases and a further decrease during the final visit 6 months after the treatment. During the treatment, there were no significant differences in endothelial cell density in branch retinal vein occlusion and central retinal vein occlusion. We found the intravitreal dexamethasone implant to be safe, well tolerated, and likely to lead to fast morphological and functional improvement of the macula and visual rehabilitation in patients with ME due to retinal vein occlusion.

Influence of hemorheological factors on the development of retinal vein occlusion.

OBJECTIVE: The aim of this article was to present the influence of hemorheological factors on appearance of Retinal Vein Occlusion (RVO). Article explains which factors predispose to the occurrence of RVO. STUDY SELECTION: Data presented in the article were collected from both review articles and research articles as well as other sources concerning hemorheology, pharmacology and ophthalmology. RESULTS: Appearance of RVO is connected with blood viscosity and hemorheological parametres like aggregation of red blood cells, deformability of red blood cells, fibrinogen concentrations and haematocrit, and platelet activity. In the pathogenesis of retinal vein occlusion other risk factors were also indicated: age, systemic diseases and smoking. Such correlation has been indicated in numerous researches which were conducted over the last years. RVO is usually accompanied by macular oedema. RVO may successfully be treated using intravitreal dexamethasone implant. CONCLUSION: Quick diagnosis and therapy create a possibility for successful treatment. Corticosteroid positive influence on visual acuity improvement has been indicted in two randomized, double-blind controlled studies - CRUISE and BRAVO. In both studies, the improvement of vision has been accompanied by a significant reduction of oedema in the vicinity of macula, reflected in the central retinal thickness.