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Pseudoxanthoma elasticum (PXE) is characterized by low levels of inorganic pyrophosphate (PPi) and a high activity of tissue-nonspecific alkaline phosphatase (TNAP). Lansoprazole is a partial inhibitor of TNAP. The aim was to investigate whether lansoprazole increases plasma PPi levels in subjects with PXE. We conducted a 2 × 2 randomized, double-blind, placebo-controlled crossover trial in patients with PXE. Patients were allocated 30 mg/day of lansoprazole or a placebo in two sequences of 8 weeks. The primary outcome was the differences in plasma PPi levels between the placebo and lansoprazole phases. 29 patients were included in the study. There were eight drop-outs due to the pandemic lockdown after the first visit and one due to gastric intolerance, so twenty patients completed the trial. A generalized linear mixed model was used to evaluate the effect of lansoprazole. Overall, lansoprazole increased plasma PPi levels from 0.34 ± 0.10 µM to 0.41 ± 0.16 µM (p = 0.0302), with no statistically significant changes in TNAP activity. There were no important adverse events. 30 mg/day of lansoprazole was able to significantly increase plasma PPi in patients with PXE; despite this, the study should be replicated with a large number of participants in a multicenter trial, with a clinical end point as the primary outcome.

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BACKGROUND: To analyze the relationship between Henle fiber (HF) integrity and visual acuity in highly myopic eyes with foveoschisis. METHODS: Three hundred and fifty-eight highly myopic eyes were included in this study and divided into three groups according to the Triton optical coherence tomography results. Group 1 included 19 eyes with myopic foveoschisis where the inner and outer retina were connected by a columnar structure in the HF layer at the foveolar area. Group 2 included 17 eyes with myopic foveoschisis where the columnar structure was disrupted in the HF layer at the foveolar area. Group 3 included 322 eyes without myopic foveoschisis or other ocular disease. Clinical and optical coherence tomography findings were obtained and compared. RESULTS: Eyes with vitreomacular traction, arteriolar traction, and longer axial length were more likely to have myopic foveoschisis with intact columnar structure in the HF layer (odds ratio [OR], 12.84; P = 0.001; OR, 7.63; P = 0.04; OR, 2.03; P = 0.03) and with disrupted columnar structure in the HF layer (OR, 65.21; P = 0.001; OR, 6.60; P = 0.02; OR, 2.63; P = 0.01). Moreover, eyes with disrupted columnar structure in the HF layer presented a lower best-corrected visual acuity (P = 0.001), longer axial length (P = 0.001; P = 0.009), higher central foveolar thickness (P = 0.001; P = 0.02), and a higher prevalence of vitreomacular traction (P = 0.001; P = 0.04) than control or integrity HF eyes. Furthermore, worse best-corrected visual acuity was related to myopic foveoschisis with disrupted columnar structure in the HF layer (P < 0.01). CONCLUSION: The integrity of HF in patients with myopic foveoschisis appears to play an important role in visual acuity.

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Active microcalcification of elastic fibers is a hallmark of pseudoxanthoma elasticum and it can be measured with the assessment of deposition of 18F-NaF using a PET/CT scan at the skin and vascular levels. It is not known whether this deposition changes over time in absence of specific therapy. We repeated in two years a PET/CT scan using 18F-NaF as a radiopharmaceutical in patients with the disease and compared the deposition at skin and vessel. Furthermore, calcium score values at the vessel wall were also assessed. Main results indicate in the vessel walls that calcification progressed in each patient; by contrast, the active microcalcification, measured and target-to-background ratio showed reduced active deposition. By contrast, at skin levels (neck and axillae) the uptake of the pharmaceutical remains unchanged. In conclusion, because calcification in the arterial wall is not specific for pseudoxanthoma elasticum condition, the measurement of the deposition of 18F-NaF in the neck might be potentially used as a surrogate marker in future trials for the disease.

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BACKGROUND: To compare the long-term clinical evolution of highly myopic eyes with vertical oval-shaped dome associated with or without untreated serous retinal detachment. METHODS: Twenty-eight patients with high myopia (40 eyes) with smooth macular elevations related to a vertical oval-shaped dome were recruited. Serous retinal detachment was investigated; 11 eyes had persistent submacular fluid (study group) and 29 eyes lacked submacular fluid (control group). All patients underwent complete ophthalmological examinations, including optical coherence tomography at baseline every 6 months for 2 years. Fluorescein angiographies were performed in cases with serous retinal detachment to rule out choroidal neovascularisation. RESULTS: There were no statistical differences in baseline age, sex, spherical equivalence or axial length between the two groups. Serous retinal detachment always occurred at the top of the inward macular incurvation. Moreover, no statistically significant differences in mean best-corrected visual acuity were observed during the 24-month follow-up period in the study and control groups and between the two groups at all time points. The mean central foveal thickness was significantly higher in the study group at each visit (p=0.001, in all cases). At the final follow-up visit, complete resolution of the serous retinal detachment was achieved in 1 of the 11 study group's eyes. CONCLUSIONS: Serous retinal detachment is a complication associated with vertical oval-shaped domes that seems to remain stable in terms of visual function over time without treatment.

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We report an unusual association of a pattern dystrophy of the retinal pigment epithelium and homonymous hemianopia in a woman diagnosed with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome.

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We present a case of a 40-year-old woman with a fundus image similar to frosted retinal angiitis after undergoing pars plana vitrectomy and intravitreal triamcinolone injection. The patient with diabetic retinopathy was referred to our hospital with vision loss in her right eye secondary to vitreous haemorrhage. After pars plana vitrectomy and injection of triamcinolone acetonide a funduscopy examination revealed deposits of triamcinolone along the retinal vessels simulating a frosted retinal angiitis. Triamcinolone deposits along blood vessels could be the result of the reabsorption process of these crystals by the perivascular macrophages. Further studies are needed.

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