Maurizio La Cava

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.

Clinical Features and Complications of the HLA-B27-associated Acute Anterior Uveitis: A Metanalysis

ABSTRACT In this article, we report a literature-based metanalysis we have conducted to outline the clinical features of the HLA-B27 Acute Anterior Uveitis (AAU). The examined material was based on observational studies in which participants were affected by Acute Anterior Uveitis and divided into HLA B27+ and HLA B27–. We performed a search on articles with the words “HLA B27 uveitis” dated before May 2014. Among these, 29 articles were selected for a second review. After a further evaluation, 22 articles were analyzed. The clinical characteristics studied in the metanalysis were: (1) systemic disease; (2) sex distribution; (3) laterality; (4) visual acuity; (5) hypopion; (6) anterior chamber’s fibrin; (7) elevated intraocular pressure (IOP) during inflammation; (8) glaucoma; (9) posterior synechiae; (10) cataract; (11) cystoid macular edema; (12) papillitis. We have calculated a relative risk (RR) for each outcome measured. The results obtained remark some of the peculiar features linked to the HLA B27 Acute Anterior Uveitis, such as strong association with ankylosing spondylitis (RR = 6.80) and systemic diseases (RR = 9.9), male prevalence (RR = 1.2), unilateral (RR = 1.1) or alternating bilateral (RR = 2.2) involvement, hypopion (RR = 5.5), fibrinous reaction and even papillitis (R = 7.7). Simultaneous bilateral (RR = 0.3) AAU is more frequent in HLA-B27 negative form. We report higher risk of elevated IOP and glaucoma (RR = 0.6) in B27– Acute Anterior Uveitis. No significant difference between HLA B 27 positive and negative AAU was observed according to final visual acuity and complications such as posterior synechiae, cataract, and maculare edema. We trust that this will inform on the clinical evaluation and therapeutic decision in addressing a still ill-defined ophthalmologic condition.

Follow-Up Study of Over Three Years of Patients with Uveitis after Cataract Phacoemulsification: Outcomes and Complications

ABSTRACT Purpose: To evaluate the rate and onset of intraoperative and postoperative complications post-phacoemulsification. Methods: One hundred sixty-two eyes of 145 patients with uveitis who underwent phacoemulsification between 2006 and 2009 were identified through surgical record review. Fifty-nine eyes of 46 patients met the inclusion criteria. Hazard ratio (HR) and Kaplan-Meier survival probability were calculated for each class of uveitis. Results: Macular edema (ME) resulted to be associated to chronic postoperative inflammation (r = 0.6; p = 0.00) and mostly related to patients who presented more than one postoperative relapse/year (r = 0.2; p = 0.02). Fuchs uveitis resulted to be a risk factor for posterior capsule opacification (PCO) (HR 3.36 IC95%1.0-10.5; p = 0.03). Hypotony and elevated intraocular pressure (IOP) were detected in the anterior uveitis group (0.02 EY). Conclusion: The HR to develop ME was significantly related to chronic anterior uveitis. PCO and elevated IOP are most frequent in Fuchs uveitis. The postoperative visual acuity result was good among all the uveitis groups.

Pathophysiology of Corneal Dystrophies: From Cellular Genetic Alteration to Clinical Findings

Corneal dystrophies are a heterogeneous group of bilateral, inherited, rare diseases characterized by slowly progressive corneal opacities, that lead to visual impairment. Most of them have an autosomal dominant pattern of inheritance with variable expressivity, but new mutations have been described. Many corneal dystrophies have been genetically characterized and the specific gene mutations identified, such as for the epithelial–stromal TGFBI dystrophies. Current classification systems identified four main groups of corneal dystrophies based on clinical, histologic, and genetic information. Diagnosis is performed during a routine ophthalmic examination that shows typical cellular abnormalities of the corneal epithelium, stroma, or endothelium. Disease progression should be carefully monitored to decide the proper clinical management. The treatment of corneal dystrophies is variable, depending on symptoms, clinical course, severity, and type of dystrophy. Management aimed to reduce symptoms and to improve vision, includes different surgical approaches. Novel cellular and genetic therapeutic approaches are under evaluation. J. Cell. Physiol. 231: 261–269, 2016.

Spectral domain optical coherence tomography imaging of tubercular chorioretinitis and intraretinal granuloma. Intraretinal tuberculosis: a case report

The aim of this study is to report the clinical and spectral domain optical coherence tomography (SD-OCT) findings in a patient suffering from ulcerative colitis with bilateral tubercular chorioretinitis and intraretinal granuloma regressed with systemic antitubercular therapy (ATT). This study is a case report of a 33-year-old Bangladeshi male with ulcerative colitis treated with oral corticosteroids and azathioprine who was referred to our department with a diagnosis of central serous chorioretinopathy. Serological tests, the Mantoux skin test, complete ophthalmologic examination, ocular fundus photography, fundus fluorescein angiography, and SD-OCT scans were performed. The ophthalmological inflammatory pattern and serological investigations provided an early diagnosis of ocular tuberculosis. Systemic ATT led to significant improvement and resolution of the ocular inflammation. SD-OCT was a useful non-contact imaging technique in the follow-up of tubercular choroiditis. The excellent response to systemic ATT confirmed the clinical diagnosis. This is an unusual case of tubercular chorioretinitis with intraretinal granuloma and is the first such SD-OCT description reported in the ophthalmological literature.

Uveitis in Turner's syndrome

AbstractBackground. Turners syndrome is a chromosomal abnormality where phenotypic females have either a missing X chromosome or a structural aberration of the X chromosome. Several ocular diseases have been associated with Turners syndrome in the past, including one case only of proven iridocyclitis. Methods. In this study we report the clinical findings of three females with Turners syndrome and uveitis followed up for a mean period of 12.6 months. Two were observed in childhood or adolescence (10 and 16 years old). Results. All the patients showed iridocyclitis, in one case complicated by the onset of papilledema and cystoid macular edema. Associated systemic diseases (psoriasis and juvenile seronegative arthritis) were diagnosed in two cases. The third patient showed positive antinuclear antibody and HLA-DR11, without any clinical or radiologic signs of arthritis. The iridocyclitis tended to become chronic with time, and this may be partially due to the endocrinologic contraindications to the use of systemic steroids. Nevertheless, the final visual acuity was ≥8/10 in all three cases. Conclusions. Iridocyclitis should be included in the list of ocular manifestations in Turners syndrome. It may tend to become chronic and may be found especially in those patients presenting other associated autoimmune systemic disease.

Delayed Onset of Bilateral Acute Retinal Necrosis Syndrome: A 46-Year Interval

Abstract Background: Acute retinal necrosis (ARN) syndrome is an uncommon, severe form of retinitis that is caused by the herpes virus family. Bilateral acute retinal necrosis (BARN) at delayed onset is rare. Methods: A retrospective, interventional case is described in a 64-year-old man complaining of blurred vision in the left eye. The patient had a history of presumed ARN in the right eye at the age of 18 years. Results: The reduced visual acuity and the ocular fundus signs lead us to the diagnosis of delayed-onset BARN. Intravenous and intravitreal antiviral therapy, corticosteroid and antiplatelet treatment were administered until recovering final visual acuity. Conclusions: This report represents the longest reported interval of ARN quiescence with eventual bilateral involvement and illustrates the importance of long-term patient follow-up in immunocompetent patients.

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.

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.

Current and emerging treatment options for vernal keratoconjunctivitis

ABSTRACT Introduction: Vernal keratoconjunctivitis (VKC) is a rare, chronic allergic disease affecting children in prepuberal age. The hallmark of VKC is the presence of conjunctival upper tarsal and/or limbal papillary reaction. Recurrences of inflammation are characterized by intense ocular symptoms of itching, redness and photophobia associated with corneal involvement ranging from punctuate keratitis to corneal shield ulcers with risk of visual impairment. Areas covered: The goals of VKC treatment are to control inflammation, improve quality of life and avoid corneal complications. Topical antiallergic drugs are effective in mild to moderate forms of VKC, while, in the presence of intense symptoms and corneal involvement, short-term, high dose topical steroids are effective in controlling ocular inflammation. However, steroid chronic use leads to severe side effects such as glaucoma and cataract. Topical Cyclosporine A and Tacrolimus showed to be effective as steroid sparing agents, however, they are not yet available in the market for the use in VKC. Expert opinion: Current treatment of VKC is a severity-based approach, however evidence based guidelines are lacking. Novel molecule, targeting pathogenic mechanisms alternative to immune reaction, may improve the management and outcome if this challenging disease.