A. Moramarco

Ocular features in joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type: a clinical and in vivo confocal microscopy study.

PURPOSE To investigate ocular anomalies in joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type (JHS/EDS-HT). DESIGN Prospective, cross-sectional study. METHODS Forty-four eyes of 22 consecutive patients with an established diagnosis of JHS/EDS-HT and 44 eyes of 22 age- and gender-matched control subjects. Administration of a standardized questionnaire (Ocular Surface Disease Index) and a complete ophthalmologic examination, including assessment of best-corrected visual acuity, slit-lamp biomicroscopy, intraocular pressure measurement, indirect ophthalmoscopy, tear-film break-up time, Schirmer I testing, axial length and anterior chamber depth measurement, corneal topography, corneal pachymetry, and confocal microscopy. Main outcome measures included comparing ocular anomalies in JHS/EDS-HT and control eyes. RESULTS JHS/EDS-HT patients reported dry eye symptoms more commonly than controls (P < .0001). Scores of tear-film break-up time and Schirmer I test were significantly lower in JHS/EDS-HT eyes (P < .0001). Minor lens opacities were significantly more common in the JHS/EDS-HT group (13.6%; P < .05). Pathologic myopia with abnormal vitreous was found in 7 JHS/EDS-HT eyes (15.9%) and 0 controls (P = .01). Corneas were significantly steeper and the best-fit sphere index was significantly higher in JHS/EDS-HT group (P < .01). By confocal microscopy, the JHS/EDS-HT group showed lower density of cells in the superficial epithelium (P < .001) and higher density of stromal keratocytes in anterior and posterior stroma (P < .0001). CONCLUSIONS The most consistent association of eye anomalies in the JHS/EDS-HT group included xerophthalmia, steeper corneas, pathologic myopia, and vitreous abnormalities, as well as a higher rate of minor lens opacities. These findings indicate the need for ophthalmologic survey in the assessment and management of patients with JHS/EDS-HT.

Element concentrations and cataract: an experimental animal model

The determination of inorganic ions in cataractous human lenses has been the subject of several investigations; nevertheless, few studies have been concerned with trace element contents in lenses, and data are sometimes contradictory. An animal experimental model of induced cataract is here proposed with the aim of evaluating the changes of Ca, Na, K, Cu and Zn concentrations. The cataract was produced by an Nd:YAG Laser treatment of the right eye of sexteen male rabbits. The determination of the elements was performed by atomic absorption spectrometry (both flame and flameless methods) after an acid digestion of samples. Compared with the results obtained in left lenses used as a control (Ca 14.4+/-5.7 mg/kg d.w.; Na 1.3+/-0.5 g/kg d.w.; K 9.9+/-1.1 g/kg d.w.; Cu 0.24+/-0.09 mg/kg d.w.; Zn 24.8+/-2.3 mg/kg d.w.), the mean concentration values of opaque lenses showed some significant changes for Ca, Na, and Cu (Ca 123.7+/-106.6 mg/kg d.w.; Na 4.5+/-4.3 g/kg d.w; Cu 0.43+/-0.21 mg/kg d.w.). Potassium showed a tendency to decrease, and zinc to increase. Positive correlations were found between calcium and sodium both in controls (r=0.73, p<0.001) and in treated lenses (r= 0.87, p<0.0001). An inverse correlation between Ca and K confirmed the tendency of potassium to decrease.

Near-infrared imaging: an in vivo, non-invasive diagnostic tool in neurofibromatosis type 1

PurposeOnly a few reports in the literature have investigated the presence of ocular abnormalities in neurofibromatosis type 1 (NF-1) patients. The aim of this study was to evaluate the prevalence of ocular abnormalities in a large population of NF1 patients, focusing on the choroidal changes.MethodsThis study was conducted on 160 consecutive patients with NF1 and 106 sex- and age-matched healthy subjects (control). Each patient underwent a complete ophthalmological examination inclusive of best-corrected visual acuity, intraocular pressure measurement, slit-lamp biomicroscopy, indirect fundus biomicroscopy, and near-infrared reflectance (NIR) retinography by using the spectral domain OCT. Moreover, all patients underwent complete dermatological exam and 1.5-Tesla MRI scan of the brain to assess the presence of optic nerve gliomas.ResultsChoroidal abnormalities were detected in 97% of patients, with a positive predictive value of 100% and a negative predictive value of 96.4%. Interestingly, a small number of patients (4/160; 2.5%) showed Lisch nodules without choroidal abnormalities, whereas a larger number of patents (22/160; 13.75%) presented choroidal lesions in absence of Lisch nodules. None of the patients showed the absence of both choroidal lesions and Lisch nodules. The number of choroidal lesions increased with age (r = 0.364, p = 0.0001) and with the severity of pathology (r = 0.23, p = 0.003). Any statistically significant correlation between choroidal lesions, visual acuity, and intraocular pressure was observed.ConclusionsNIR imaging represents an in vivo, non-invasive, sensitive and reproducible exam to detect choroidal nodules in NF-1 patients, suggesting that choroidal changes may represent an additional diagnostic criteria for NF1.

SD-OCT in NIR modality to diagnose retinal microvascular abnormalities in neurofibromatosis type 1

Dear Editor, Neurofibromatosis type I (NF1), also known as Von Recklinghausen’s disease, is one of the most common autosomal dominant genetic disorders with an average prevalence of 1:4000 and an estimated incidence of 1:3000 [1]. The diagnosis of NF1 is based on the clinical criteria recommended by the NIH Consensus Conference which include multiple café-au-lait spots (CLS), cutaneous or subcutaneous neurofibromas, plexiform neuromas, axillary or inguinal freckling, optic gliomas, distinctive osseous lesion, and iris Lisch nodules [1]. Lisch nodules represent the most common ocular feature of NF-1. Further ocular manifestations include optic gliomas, orbital and eyelid neurofibromas, eyelid café-au-lait spots, choroidal nevi, congenital absence of the greater wing of the sphenoid bone, congenital glaucoma, and choroidal abnormalities [1]. There are only a few reports in the literature that analyze the presence of ocular abnormalities in NF-1 patients. The aim of this study was to evaluate the prevalence of retinal abnormalities in a large sample of consecutive patients with NF1. This study was conducted on 224 consecutive patients (123 females and 101 males, mean age 38.5 ± 20.5 years, range 5– 69 years) with NF1. Each patient underwent a comprehensive ophthalmological examination inclusive of best-corrected visual acuity, intraocular pressure measurement, slit-lamp biomicroscopy, indirect fundus biomicroscopy, and spectral domain OCT superimposed to near-infrared fundus images (NIR). All patients underwent 1.5 Tesla MRI scan of the brain to assess the presence of optic nerve gliomas. Of the 224 patients, 84 patients (37.5%) had microvascular abnormalities within 30° angle of the fovea on NIR. Retinal vascular abnormalities were bilateral in 18 cases. Fifty-seven (25.5%) patients had a single type of lesions; 22 patients (12%) had two different types; and 5 patients (2.3%) presented three different patterns of retinal microvascular abnormalities. We identified three different vascular patterns based on their appearance: (i) the simple tortuosity; (ii) the more complex corkscrew; and iii) the moya moya-like configurations (Fig. 1). In the Bcorkscrew^ pattern, we identified a spiral attitude of vessels, while the moya moya-like configuration was characterized by tortuous vessels that end in a Bpuff of smoke^ arrangement that resembles the collateral circulation seen in moya moya syndrome. Of 224 patients, 57 subjects (25.5%) presented at least the simple vascular tortuosity and 42 (18.7%) the corkscrew pattern while 17 (7.5%) the moya moya-like type. These lesions were predominantly unilateral and not associated with visual function changes. Retinal microvascular abnormalities are not detectable at indirect ophthalmoscopy exam due to their very small caliber, while they can be easily identified with spectral domain OCTNIR fundus images. To our knowledge, there are only few studies that have described these abnormalities in small series of patients with NF1.In a study involving 32 patients with NF1, retinal microvascular abnormalities were present in the 37.5% of the patients [2]. Abdolrahimzadeh et al. found microvascular abnormalities in 35% of 17 patients [3]. Karadimas and Asensio-Sánchez reported corkscrew retinal vessels in a single patient with NF1 [4, 5]. They were predominantly unilateral, typically benign, and were not associated with visual alteration. A recent paper of Parrozzani et al. reported a prevalence of retinal vascular abnormalities in 6.1% of patients with NF1 detected by infrared confocal scanning laser ophthalmoscopy images [6]. The Authors highlight that * Marta Sacchetti marta.sacchetti@uniroma1.it

Neuronavigational Approach for Orbital Neurofibroma Excision: A Case Report

Orbital neurofibromas are uncommon in adults, accounting for approximately 1%-3% of all space occupying lesions of the orbit. The complex anatomy of the orbital region, with the pronounced vulnerability of its neurovascular structures, requires particular surgical precautions. Neuronavigation, as a high-tech device for intraoperative safety, represents a valuable option for the confined orbital space. However, the application of neuronavigation in orbital surgery has been rarely reported. The authors present a case report of a 32-year-old female with an isolated localized neurofibroma surgically approached by intraoperative navigation and a review of the literature.

Correlation Between Steroid Hormone Balance and Etiopathology of High Myopia: Clinical Trial

Summary. The purpose of this study was to determine the relationship between steroid hormone balance in fertile women and the progression of high myopia. Variations of cortisol, progesterone, and estradiol were evaluated. A case-control clinical trial was conducted on two groups of subjects. The first group included patients affected by high myopia (with insufficient optical correction). The control group was composed of emmetropic or hypermetropic women of the same age group. We observed increased serum cortisol levels in the women with high myopia, whereas progesterone and 17-~-estradiol did not differ between the two groups. The significantly higher cortisol values in the group with high myopia supported Balacco Gabrielis theory on the role of hormonal balance in the progression of high myopia.