Neurofibromatosis type 1 (NF 1) is a multisystemic genetic disorder involving aberrant proliferation of multiple tissues of a neural crest origin. It represents a tumor predisposition syndrome characterized by a wide range of clinical manifestations, such as benign tumors, which primarily affect the skin and the nervous system. The most frequent clinical signs of NF 1 include café-au-lait spots all over the surface of the skin and axillary freckling; however, these signs can be accompanied by more severe manifestations such as the growth of both benign and malignant nervous system tumors and skeletal dysplasia, as well as a wide range of ocular manifestations. We report the rare case of retinal microvascular alterations and choroidal nodules in a 15 year old male patient with NF 1, detectable on optical coherence tomography angiography (OCTA). The hyperreflective choroidal nodules modified the profile of the choroidal vasculature. The retinal microvascular alterations in the form of clustered capillaries were detected in the superficial capillary plexus located nasally to the macular region. Retinal vascular abnormalities undetectable on fundus photography or fundoscopy can be present in patients with NF 1. Indirect ophthalmoscopy of our study patient was unremarkable. However, retinal vascular abnormalities were seen on OCTA scans in the superficial capillary plexus and choroidal nodules were detected on raster OCT scans. OCTA represents a useful imaging technique for detecting retinal microvascular abnormalities, which can be considered additional distinctive signs of NF 1.

暂无摘要。

Increased UAE is a marker of generalized vascular damage in high-cardiovascular risk patients. However, it remains unknown whether it corresponds to a state of diffuse vasculopathy in high-risk patients with RA.
UAE was estimated in 24-hour urine samples in RA and non-RA individuals. Retinal arteriolar and venular diameters were calculated from retinal images with computerized software. SEVR was estimated as an index of microvascular coronary perfusion with applanation tonometry. Dermal capillary density was measured from images obtained with nailfold capillaroscopy, using specifically designed software.
In a total of 111 individuals, neither UAE (5.1 [2.8-10.8] vs 6.5 [3.0-11.7] mg/24 h) nor prevalence of microalbuminuria (11.0% vs 8.1%) significantly differed between patients (n = 74) and controls (n = 37). In the RA group, UAE was not significantly associated with inflammation, nor with any of the studied microvascular indices of the retinal microvasculature, the coronary microcirculation, and the dermal capillary network.
Among RA patients, UAE was not associated with markers of vasculopathy in distal microvascular beds. Increased UAE in RA might be primarily considered as a manifestation of localized, compromised function of the renal microvasculature, rather than a marker of generalized microvascular impairment.

Quantification of retinal vessel morphology has emerged as a marker of cardiovascular health. We examined retinal microvascular diameters in RA, particularly in regard to systemic inflammation, subclinical atherosclerosis, and cardiovascular risk.
Retinal images from RA patients and controls were processed using computerized software, to obtain CRAE and CRVE and AVR. Subclinical atherosclerosis was assessed with cIMT, and 10-year risk of general cardiovascular disease was calculated.
Both CRAE (78.8 ± 8.9 vs 90.2 ± 9.9 μm, P < .001) and AVR (0.69 ± 0.09 vs 0.81 ± 0.09, P < .001) were decreased in RA patients (n = 87) compared to controls (n = 46), whereas CRVE did not differ. Among RA patients, CRAE and AVR were inversely associated with both cIMT and CRP, whereas CRVE positively correlated with CRP (P < .05 for all). CRAE additionally correlated with cardiovascular risk score (r = -.396, P = .001). In the multivariate analysis, cardiovascular risk was associated with CRAE; age with CRVE, while CRP independently predicted AVR.
Our study shows altered retinal microvascular morphology in RA patients. Inflammation appears as the biological link for the observed association between retinal microvascular abnormalities and subclinical atherosclerosis. Retinal arteriolar narrowing might play its own role in cardiovascular risk prediction in RA.

OBJECTIVE: To measure the wall-to-lumen ratio (WLR) and the cross-sectional area of the vascular wall (WCSA) of retinal arterioles by an Adaptive Optics (AO) retinal camera.
METHODS: Forty-seven human subjects were examined and their medical history was explored. WLR and WCSA were measured on the basis of retinal arteriolar wall thickness (VW), lumen diameter (LD) and vessel diameter (VD) assessed by rtx1 Adaptive Optics retinal camera. WLR was calculated by the formula [Formula: see text]. Arterio-venous ratio (AVR) and microvascular abnormalities were attained by quantitative and qualitative assessment of fundus photographs. Influence of age, arterial hypertension, body mass index (BMI) and retinal microvascular abnormalities on the WLR was examined. An age-adjusted WLR was created to test influences on WLR independently of age. Considering WLR and WCSA, a distinction between eutrophic and hypertrophic retinal remodeling processes was possible.
RESULTS: The intra-observer variability (IOV) was 6 % ± 0.9 for arteriolar wall thickness and 2 % ± 0.2 for arteriolar wall thickness plus vessel lumen. WLR depended significantly on the wall thickness (r = 0.715; p < 0.01) of retinal arterioles, but was independent of the total vessel diameter (r = 0.052; p = 0.728). WLR correlated significantly with age (r = 0.769; p < 0.01). Arterial hypertension and a higher BMI were significantly associated with an increased age-adjusted WLR. WLR correlated significantly with the stage of microvascular abnormalities. 55 % of the hypertensive subjects and 11 % of the normotensive subjects showed eutrophic remodeling, while hypertrophic remodeling was not detectable. WLR correlated inversely with AVR. AVR was independent of the arteriolar wall thickness, age and arterial hypertension.
CONCLUSIONS: The technique of AO retinal imaging allows a direct measurement of the retinal vessel wall and lumen diameter with good intra-observer variability. Age, arterial hypertension and an elevated BMI level are significantly associated with an increased WLR. The wall-to-lumen ratio measured by AO can be used to detect structural retinal microvascular alterations in an early stage of remodeling processes.