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Objective: To evaluate changes in multimodal retinal imaging of patients with chronic myeloid leukemia. Methods: Observational case series study. All patients underwent a complete ophthalmic examination and were imaged with multimodal imaging before and after therapy for CML. Results: Mean age at diagnosis was 15 years old. All patients were male. The retinal findings at diagnosis were foveal infiltrates in 66.6%, retinal infiltration in 66.6%, venous dilation and arterial tortuosity in 66.6%, retinal hemorrhages in 100%, pre-retinal hemorrhages 33.3%, cotton-wool spots in 66.6%, Roth’s spots in 100%. Mean follow-up was 94.6 weeks (range 20-150 weeks). Regression of LR was completed after 100 days (range 56-170 days), and regression of macular infiltrates, at day 19 (range 17-21 days). Conclusion: MRI can provide relevant information when monitoring clinical response for systemic conditions affecting the eyes. At first, foveal infiltrates tend to disappear once the induction therapy has started. Retinal hemorrhages, vascular dilation, retinal infiltrates, and cotton wool spots tend to gradually disappear associated to the reduction of mature cells into the blood stream and the achievement of a major molecular response (MMR) assessed by TR-PCR.

Purpose: To study the subfoveal choroidal thickness (SFCT), macular ganglion cell layer (GCL-IPL) and central macular thickness (CMT) in Caucasian children, and to analyze these optical coherence tomography (OCT) parameters depending on the spherical equivalent (SE). Methods: Cross-sectional study of SFCT, GCL-IPL, and CMT in Caucasian children, analyzed with spectral-domain OCT Cirrus 5000 and Enhanced-depth imaging technique. Correlation between these three OCT parameters, age, sex, and spherical equivalent was analyzed. The eyes were classified into three groups: group 1 included eyes with SE < 0, group 2 included eyes with SE between 0 and +2.00, and group 3 eyes with SE > +2.00. Results: Hundred ninety-eight eyes of 121 subjects were studied. The mean age was 9.22 years (range 3–16); 61.1% were female. The mean SFCT was 351.04 ± 84.08 µm, being 310.04 ± 82.84µm in group 1 (n = 62), 373.14 ± 83.16 µm in group 2 (n = 71) and 365.18 ± 73.16 µm in group 3 ( n = 65); statistically significant differences were found between groups 2 and 3, compared with group 1. GCL-IPL thickness was significantly thinner ( p Conclusions: SFCT and GCL-IPL thickness were significantly thinner ( p

The authors describe a 5-year-old girl who developed a Noonan syndrome-like disorder as a result of the CBL c.1194CG/p.His398Gln variant, including headache, papilledema, intracranial hypertension, hyperproteinorrhachia, leucorrhachia, and brain inflammation and vasculitis with CD3 positive lymphocyte infiltration. The patient responded partially to corticosteroids, acetazolamide, and ventriculoperitoneal valve placement. The serum cytokine profile revealed persistently elevated levels of IL-1 RA, IL-2R alpha, IL-6, IL-18, MCP-1, and MCP-3. Cyclophosphamide was used as a bridge to allogeneic hematopoietic stem cell transplantation in this case.

Recently, You, Hoover-Fong, and colleagues described a disease caused by a deficiency of the telomere maintenance 2 gene (We report two siblings, diagnosed with You-Hoover-Fong syndrome at the age of 28 and 14 months. Both were genetically studied to find the cause of their developmental delay and microcephaly.The identical compound heterozygous missense mutations in theWe report nuclear-lamellar cataracts in two siblings diagnosed with You-Hoover-Fong syndrome.

Background and objective Ankylosing spondylitis (AS) is an inflammatory disease, and choroidal thickness (CT) has been proposed and evaluated as a potential marker of systemic inflammation associated with AS and other inflammatory diseases. This study compared CT measurements taken from patients with severe AS disease activity without eye inflammation with those taken from healthy subjects. Methods This cross-sectional, multicenter study compared CT in 44 patients with high AS disease activity, and no history of eye inflammation with CT in 44 matched healthy subjects aged between 18 and 65 years. In the AS group, the correlation between CT and C-reactive protein, human leukocyte antigen (HLA) B27 positivity, disease duration, and disease activity was calculated. Results Mean CT values of patients with AS were significantly higher in the right eye, the left eye, and the thickest choroid eye. The right eye mean CT was 338.3 ± 82.8 μm among patients with AS and 290.5 ± 71.2 μm among healthy subjects (p = 0.005). The left eye mean CT was 339.5 ± 84.7 μm for patients with AS and 298.4 ± 68.9 μm for healthy subjects (P = 0.015). The thickest choroid eye CT was 358.4 ± 82.1 μm among patients with AS and 314.1 ± 65.2 μm among healthy subjects (P = 0.006). We did not find a significant correlation between CT and disease activity, C-reactive protein, human leukocyte antigen B27 positivity, or disease duration. Conclusions Patients with active AS but without a history of eye inflammation had a thicker choroid than healthy subjects. This finding suggests that CT is a marker of systemic inflammation in patients with inflammatory disease, regardless of known eye symptoms.