Alice Bruscolini

Congenital Corneal Anesthesia and Neurotrophic Keratitis: Diagnosis and Management

Neurotrophic keratitis (NK) is a rare degenerative disease of the cornea caused by an impairment of corneal sensory innervation, characterized by decreased or absent corneal sensitivity resulting in epithelial keratopathy, ulceration, and perforation. The aetiopathogenesis of corneal sensory innervation impairment in children recognizes the same range of causes as adults, although they are much less frequent in the pediatric population. Some extremely rare congenital diseases could be considered in the aetiopathogenesis of NK in children. Congenital corneal anesthesia is an extremely rare condition that carries considerable diagnostic and therapeutic problems. Typically the onset is up to 3 years of age and the cornea may be affected in isolation or the sensory deficit may exist as a component of a congenital syndrome, or it may be associated with systemic somatic anomalies. Accurate diagnosis and recognition of risk factors is important for lessening long-term sequelae of this condition. Treatment should include frequent topical lubrication and bandage corneal or scleral contact lenses. Surgery may be needed in refractory cases. The purpose of this review is to summarize and update data available on congenital causes and treatment of corneal hypo/anesthesia and, in turn, on congenital NK.

Ocular manifestations of Sturge–Weber syndrome: pathogenesis, diagnosis, and management

Sturge–Weber syndrome has been included in the group of phakomatoses that is characterized by hamartomas involving the brain, skin, and eyes. The characteristic facial port-wine stain, involving the first branch of the trigeminal nerve and the embryonic vasculature distribution in this area, leads to several ocular complications of the anterior segment and can involve the eyelids and conjunctiva. The posterior segment of the eyes is also affected with diffuse choroidal hemangiomas. However, the most frequent ocular comorbidity is glaucoma with a prevalence rate ranging from 30%–70%. Glaucoma is related to anterior chamber malformations, high episcleral venous pressure (EVP), and changes in ocular hemodynamics. Glaucoma can be diagnosed at birth, but the disease can also develop during childhood and in adults. The management of glaucoma in Sturge–Weber syndrome patients is particularly challenging because of early onset, frequently associated severe visual field impairment at the time of diagnosis, and unresponsiveness to standard treatment. Several surgical approaches have been proposed, but long-term prognosis for both intraocular pressure control and visual function remains unsatisfactory in these patients. Choroidal hemangiomas may also lead to visual impairment thorough exudative retinal detachment and macular edema. Treatment of exudative hemangioma complications is aimed at destructing the tumor or decreasing tumor leakage.

Dry Eye Syndrome in Non-Exophthalmic Graves' Disease.

ABSTRACT Background: The present study aims to assess qualitative and quantitative characteristics of tear film and corneal related impairment and to evaluate the quality of life in a cohort of non-exophthalmic Graves’ disease (GD) patients. Methods: The series comprised 50 eyes from 25 newly diagnosed GD patients with no proptosis. As control group, 56 eyes of 28 thyroid disease-free subjects were enrolled. Results: The results of Schirmer I and II, break-up time, and Oxford scheme showed a significant difference between GD and controls. By ocular surface disease index (OSDI) questionnaire, eleven (44%) GD patients had normal ocular surface, while two (8%) had mild, four (16%) had moderate, and eight (32%) had severe dry eye. The mean score of the OSDI in the GD group was significantly (p < 0.001) higher with respect to the control group. Conclusions: This study shows that the tear film and cornea are damaged in newly non-exophthalmic GD subjects.

Uveitis heralding previously unknown luetic and HIV infection: syphilitic uveitis in an Italian referral center

PURPOSE This study was conducted to determine the incidence of luetic uveitis in the last seven years at our uveitis center and to describe the characteristics and the role of uveitis in the diagnosis of syphilitic infection with or without unknown HIV infection. METHODS We retrospectively reviewed syphilitic uveitis in patients observed at our center between 2004 and 2010. The diagnosis was based on the serological evidence for syphilis, uveitis, exclusion of other etiologies. All patients had HIV testing. RESULTS We describe 14 new cases of luetic uveitis: 6 co-infected with previously unknown HIV-infection had panuveitis, while the most common presentation in HIV-negative patients was posterior uveitis. CONCLUSIONS Syphilis has been recognized as reemerging disease. The ocular inflammation can be the first symptom of syphilis. This study underlines the importance of a prompt and correct diagnosis of this ocular disease.

Retinal nerve fibre layer thickness changes in Alzheimer’s disease: Results from a 12-month prospective case series

PURPOSE To compare the 12-month peripapillary retinal nerve fibre layer (pRNFL) thickness change between AD patients and normal subjects. METHODS In this prospective case series, thirty-six patients with a diagnosis of mild to moderate AD and 36 age-matched control subjects were included. All the subjects underwent neuropsychological (MMSE, ADAS-Cog and CDR) and ophthalmological evaluation, including spectral domain optical coherence tomography (SD-OCT), at baseline and after 12 months. RESULTS Compared with controls, AD patients had a significant reduction of the total pRNFL thickness, as well as the pRNFL thickness of the inferior and superior quadrants (p=0.04, p=0.001, and p=0.01, respectively, adjusted for baseline pRNFL measurement, age, gender, and axial length). Correlation analysis showed a significant relationship between inferior pRNFL thickness change and ADAS-Cog scores change (r=-0.35, p=0.02) as well as CDR scores at 12 months (r=-0.39, p=0.008). CONCLUSIONS Compared with controls, AD patients had a significant reduction in pRNFL thickness over a period of 12 months. The pRNFL reduction was more prominent in the inferior quadrant and paralleled patients cognitive decline.

A branch retinal artery occlusion in a patient with Gaucher disease

Gaucher disease (GD) is a rare familial autosomal recessive disorder of lipid metabolism, resulting in an accumulation of abnormal glucocerebrosides in the reticulo-endothelial system. Patients with GD may present with hepatosplenomegaly, anemia, thrombocytopenia, and destructive bone disease. An enzyme replacement therapy with intravenous infusions of glycosylceramidase has been successfully proposed for treating the visceral manifestations. Gaucher disease can be divided into three subtypes: non-neuronopathic (type 1) which is the most common, acute neuronopathic (type 2), and subacute neuronopathic (type 3) [1]. Several studies have reported ocular manifestations such as strabismus, conjunctival pterygia, corneal opacities, vitreous opacities and retinal involvement [2–7]. To our knowledge, this is the first reported case of Gaucher disease complicated by branch retinal artery occlusion.

A Mild Grave’s Ophthalmopathy During Pregnancy

Abstract Introduction: Thyroid ophthalmopathy is a complication most commonly associated with Grave’s disease. The disease course ranges from mild to severe, with severe cases resulting in major visual impairment. Methods: A complete ophthalmic examination in a 35-year-old secundigravida to 14 weeks of gestation presented to the hospital for a routine ophthalmological examination with eyelid retraction in the right eye was made. We studied the course of ocular disease through the gestation with orbit ecography and a 3T MRI. Results: A diagnosis of Grave’s Ophthalmopathy was made. Conclusion: This case presents an unusual course of the GD during pregnancy and a normal post-partum relapse, according to the Th1/Th2 balance. The frequent follow-up and the use of MRI allowed a prompt identification and complete control of the disease.

Contact Lens Care among Teenage Students in Italy: A Cross-Sectional Study

ABSTRACT Aim: To assess the attitude and practice of contact lens (CL) wearers among teenage school students and to evaluate how much the teenagers adhere to the CL care procedures according to the proper care of CL guidelines. Methods: A cross-sectional descriptive study of Italian teenagers from high schools in Rome who wear CL. We inquired about the different aspects of CL care through a questionnaire. Results: We investigated 3,106 students from high schools in Rome (2% of all Roman high school students), 293 of whom wore CL (9%); 151 (52%) of participants responded, 42 (27.8%) male and 109 (72.8%) female. The mean age was 16.4 ± 1.6 years. 79.5% of students were daily users. 45.7% wore CL more than nine hours/day. 87.4% wore soft CL. 33.1% wore disposable CL; 7.9% weekly CL, 55% monthly CL. Thirty-four percent wore disposable lenses twice or more. 14.5% of students did not wash their hands before handling CL and 52.3% wore CL after it had fallen in the sink. 39.7% rubbed and cleaned CL before storing it. 10% used expired lens care solutions. Only 31.1% changed CL cases every three months. 38.4% wore CL in a swimming pool. 61.6% were having problems: redness (13.9%), itching (7.9%), and foreign body sensation (29.1%). Conclusion: Many students don’t properly care for their CL. Education regarding proper care and management of CL among users is advised in view of frequency of symptoms and complications reported.

Comparison of Short-Term Choroidal Thickness and Retinal Morphological Changes after Intravitreal Anti-VEGF Therapy with Ranibizumab or Aflibercept in Treatment-Naive Eyes

ABSTRACT Purpose: To evaluate choroidal thickness (CT) and retinal morphological changes in eyes with neovascular age-related macular degeneration (nAMD) following ranibizumab or aflibercept intravitreal treatment. Materials and methods: This was a prospective, observational, comparative study where 76 eyes of 76 consecutive patients with treatment-naive nAMD were consecutively enrolled and randomized to ranibizumab 0.5 mg or aflibercept 2 mg injections. Spectral-domain optical coherence tomography images of the choroid were obtained by enhanced depth imaging modality. CT measurements were made of the subfoveal choroid, and at 500 μm from the center of the fovea in the superior, inferior, temporal, and nasal quadrants. Central subfield retinal thickness, intraretinal fluid, subretinal fluid, and pigment epithelium detachment were evaluated. Patients were followed up for 3 months. Results: Compared with baseline, CT decreased over time in both the ranibizumab and aflibercept group (P = 0.04 and 0.001, respectively). At each location, the decrease in CT was significantly more prominent in aflibercept with respect to ranibizumab-treated eyes (P < 0.05). Among the different choroidal neovascularization subtypes, type 3 lesions showed the greatest CT decrease after anti-vascular endothelial growth factor injections (P = 0.003). Choroidal thinning was significantly greater in type 3 lesions treated with aflibercept compared with ranibizumab (F = 13.6, P = 0.002). Post-treatment incidence of dry macula was higher in aflibercept- versus ranibizumab-treated eyes (50% vs. 76%, P = 0.03). Conclusions: CT reduction is greater in aflibercept-treated eyes, and type 3 lesions show the greatest thickness decrease. The post-treatment frequency of dry macula, evaluated by qualitative parameters, is higher in aflibercept-treated eyes, but is not correlated with CT change.

Diagnosis and management of neuromyelitis optica spectrum disorders - An update

Neuromyelitis optica (NMO) and Neuromyelitis optica spectrum disorders (NMOSD) are a group of autoimmune conditions characterized by inflammatory involvement of the optic nerve, spinal cord and central nervous system. Novel evidence showed a key role of autoantibodies against aquaporin-4 immunoglobulin G (AQP4 IgG) in the pathogenesis of NMOSD and, recently, new classification and diagnostic criteria have been adopted to facilitate an earlier identification and improve the management of these conditions. Diagnosis of NMOSD is currently based on clinical, neuroimaging and laboratory features. Standard treatment is based on the use of steroids and immunosuppressive drugs and aims to control the severity of acute attacks and to prevent relapses of the disease. This review gives an update of latest knowledge of NMOSD and NMO, emphasizing the novel diagnostic criteria and both current and future therapeutic approaches.