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(1) Introduction: The aim of this study is to assess retinal vessel density (VD) in the superficial capillary plexus layer (SP) and deep capillary plexus layer (DP) in children with chronic heart failure (CHF) in the course of dilated cardiomyopathy (DCM) using optical coherence tomography angiography (OCTA). (2) Methods: Thirty children with CHF due to DCM lasting more than six months, with an enlarged left ventricle and impaired left ventricular systolic function (left ventricular ejection fraction (LVEF) ≤ 55%), were enrolled to have both their eyes assessed for this study. Mean age of the children was 9.9 ± 3.57 years. The control group consisted of an additional 30 children without CHF (mean age 11.27 ± 3.33 years) matched for age and gender against the study group. All participants underwent transthoracic echocardiography to measure LVEF using Simpson method. Blood serum was tested for N-terminal-pro-brain natriuretic peptide (NT-proBNP) marker value. All children underwent OCTA with evaluation of the foveal avascular zone (FAZ), whole superficial vessel density (wsVD), foveal superficial vessel density (fsVD), parafoveal superficial vessel density (psVD), whole deep vessel density (wdVD), foveal deep vessel density (fdVD), parafoveal deep vessel density (pdVD), whole thickness (WT), foveal thickness (FT), and parafoveal thickness (PFT). (3) Results: Retinal VD in SP was significantly lower in children with CHF as compared to the controls. The following SP parameters in the study group were statistically significantly lower than these same measurements for the control group. Details, with study group findings quantified first, include wsVD (46.2% vs. 49.83%, p < 0.05), fsVD (18.07% vs. 24.15%, p < 0.05), and psVD (49.24% vs. 52.51%, p < 0.05). The WT (311.03 micrometers (μm) vs. 323.55 μm, p < 0.05), FT (244.57 μm vs. 256.98 μm, p < 0.05), and PFT (320.63 μm vs. 332.02 μm, p < 0.05). No significant differences in DP retinal VD were found between the two groups. No statistically significant differences in the FAZ were found. The fsVD and FT were correlated with biometry and the age of the study participants. There was a correlation between FAZ and FT (p < 0.001). There were no correlations between retinal VD in both plexuses and refractive error, sex, NT-proBNP, and LVEF. (4) Conclusions: In children with CHF in the course of DCM as compared to the control group, significantly decreased retinal VD in SP was observed. The results of our study indicate that measurements of the OCTA may be a useful diagnostic method in children with chronic heart failure, but it is necessary to conduct further studies in larger groups of participants and long-term observation of these patients.

Background Cohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the VPS13B/COH1 gene. It is characterized by variable clinical symptoms such as deformity of the head, face, hands and feet, eye abnormalities, abdominal obesity, neutropenia and nonprogressive intellectual disability. The typical lesions in the eyeball in Cohen syndrome include high myopia, retinal dystrophy, strabismus, maculopathy and lens subluxation. The present study describes the coexistence of bilateral macular edema with pale optic disc in a patient with a homozygous deletion in the VPS13B/COH1 gene. Material and methods A 6-year-old Caucasian girl with facial dysmorphism, microcephaly, prominent upper incisors, narrow hands with slender fingers, congenital heart defect and ophthalmic symptoms was subjected to genetic testing. The genetic evaluation revealed a homozygous deletion on the long arm of chromosome 8 encompassing 20–25 exons of the VPS13 gene, as confirmed by Cohen syndrome. She underwent a full ophthalmological examination with the assessment of slit lamp examination of anterior segment and fundoscopy, refraction error, biometry, central corneal thickness and additionally electroretinography, optical coherence tomography and fundus photography. Results In the ophthalmologic examination, the girl had bilateral astigmatism accompanied by myopia and a marked reduction in central corneal thickness. Fundus examination showed pale optic nerve discs and “salt and pepper” retinopathy. Bilateral cystic macular edema was revealed in handheld optical coherence tomography. Electroretinography showed a reduced response amplitude of cones and rods. Conclusion In a patient with high myopia, macular edema, pale optic disc and facial dysmorphism, Cohen syndrome should be considered in the differential diagnosis. The severity of individual clinical features in patients with Cohen syndrome varies. It can be assumed that the type of mutation affects the occurrence and severity of individual symptoms.

Purpose To evaluate choroidal thickness (CTh) in children with chronic heart failure (CHF) secondary to dilated cardiomyopathy (DCM) using spectral domain optical coherence tomography (SD-OCT) and to compare their values to those of healthy children. Methods Sixty eyes of thirty children (mean age 9.9 ± 3.57 years) with chronic heart failure (left ventricular ejection fraction, LVEF ≤ 55%) due to DCM lasting for over 6 months were prospectively enrolled. The control group consisted of 30 age- (mean age 10.16 ± 3.42 years) and sex-matched healthy children. All participants underwent transthoracic echocardiography with LVEF measured using the Simpson method and had the blood serum level of N-terminal-pro-brain natriuretic peptide marker (NT-proBNP) determined. All children underwent SD-OCT and had subfoveal choroidal thickness (SFCTh) and CTh measured at 1500 µm (μm) nasally, temporally, superiorly and inferiorly from the fovea in both eyes by two investigators. Results CTh at all locations was statistically significantly lower in children with DCM compared to the control group. Mean CTh in the group with CHF compared to the control group were (304.03 vs. 369.72 μm, p < 0.05) at the subfoveal location, (245.87 vs. 284 μm, p < 0.05) 1500 μm nasally from the fovea, (291.5 vs. 355.95 μm, p < 0.05) 1500 μm temporally from the fovea, (303.98 vs. 357.58 μm, p < 0.05) 1500 μm superiorly from the fovea and (290.92 vs. 344.96 μm, p < 0.05) 1500 μm inferiorly from the fovea. The average difference CTh between the study groups ranged from 38.13 to 65.69 μm at individual locations. In both groups, CTh was the thickest at subfoveal location (304.03 vs. 369.72 μm, p < 0.05) and the thinnest was 1500 μm nasally from the fovea (262.37 vs. 336.87 μm, p < 0.05). There was no correlation between CTh and age, gender, biometry and refractive error. No correlation was found between CTh and LVEF and NT-proBNP. Conclusion Patients with CHF due to DCM had a thinner CTh at all measured locations. The results of our research indicate that CHF affects CTh and this parameter may be very helpful in monitoring the clinical course of the disease in children with DCM.

Purpose: To assess ganglion cell complex (GCC) thickness in children with chronic heart failure (CHF) due to dilated cardiomyopathy (DCM) using optical coherence tomography (OCT). Methods: Sixty eyes of 30 patients with chronic heart failure (CHF) due to dilated cardiomyopathy (DCM) and 60 eyes of 30 age- and sex-matched healthy volunteers (control group) were enrolled. The mean age of the patients and controls was 9.9 ± 3.57 (range 5–17) years and 10.08 ± 3.41 (range 4–16) years, respectively. All patients underwent a complete ophthalmic assessment and OCT imaging using RTVue XR Avanti (Optovue). The following OCT-based parameters were analysed: average ganglion cell complex thickness (avgGCC), superior ganglion cell complex thickness (supGCC), inferior ganglion cell complex thickness (infGCC), global loss of volume (GLV) and focal loss of volume (FLV). Results: There were no significant differences in avgGCC (98.13 μm vs. 99.96 μm, p = 0.21), supGCC (97.17 μm vs. 99.29 μm, p = 0.13), infGCC (99.03 μm vs. 100.71 μm, p = 0.25), FVL (0.49% vs. 0.4%, p = 0.25) and GVL (2.1% vs. 1.3%, p = 0.09) between patients with chronic heart failure due to dilated cardiomyopathy and healthy children. There was no correlation between avgGCC, supGCC, infGCC, FLV, GLV and ocular biometry, refractive errors or age. There was no correlation between avgGCC, supGCC, infGCC, FLV, GLV and NT-proBNP or LVEF. There were no significant differences in the studied parameters between the sexes. There were no significant differences in the studied parameters between the left and right eye. Conclusion: Our study seems to be the first to analyse ganglion cell complex in paediatric patients with dilated cardiomyopathy. We have demonstrated no changes in the ganglion cell complex thickness parameters in children with chronic heart failure due dilated cardiomyopathy, as compared to their healthy peers.