Bilateral diffuse choroidal hemangioma in Sturge Weber syndrome: a case report highlighting the role of multimodal imaging and a brief review of the literature

Purpose: The purpose of this paper is to present a patient with bilateral choroidal hemangioma in Sturge-Weber syndrome (SWS) and highlight multimodal imaging techniques for early detection and management of ocular alterations. Methods: A 37-year-old woman with diagnosis of SWS presented to our unit. The patient had been treated with pulsed dye laser for bilateral nevus flammeus and had right leptomeningeal angiomatosis. She had glaucoma, but ultrasound biomicroscopy did not show anterior chamber or ciliary body alterations. Results: Enhanced depth imaging (EDI) spectral domain optical coherence tomography (SD-OCT) showed bilateral diffuse choroidal hemangiomas in both eyes with choroidal thickness above 1000 μm. B-scan ultrasound examination showed diffuse choroidal hemangioma in both eyes, with a choroidal thickness of 1.53 mm and 1.94 mm in the right and left eye (RE, LE), respectively. Peripapillary retinal nerve fiber evaluation showed thinning of the retinal nerve fiber layer in both eyes. Conclusions: This report highlights multimodal imaging techniques for the critical assessment of patients with SWS, especially in rare cases with bilateral choroidal hemangioma of the choroid. Novel imaging modalities enable optimal management and follow-up of rare conditions, and our case adds further evidence to the existing literature

Accidental intralenticular dexamethasone intravitreal implant with the resolution of macular oedema in central retinal vein occlusion

No abstract availabl

Evaluation of the progression of visual field damage in patients suffering from early manifest glaucoma

Abstract BACKGROUND: This retrospective study aimed to determine how often a perimetric examination should be carried out in order to identify visual field (VF) changes in patients with relatively early manifestation glaucoma. MATERIALS AND METHODS: Patients included had a relatively recent manifestation of primary open-angle glaucoma. Patients with a minimum follow-up of 5 years and a minimum of seven VF tests were included. Statistical analysis was performed to verify the trend of variations in mean defect (MD) over time (PeriData). The results were subjected to a t-test for a comparative analysis of progression of VF changes over time. The annual rate of progression provided by PeriData considering all the VFs analyzed was compared with that obtained on half of the VF examinations during the same follow-up period. An analysis of the MD trend over time was also carried out in relationship to the number of VF tests done and by dividing the sample into a high-frequency group (more than eight VFs) and a low-frequency group (fewer than eight VFs) in the follow-up period. RESULTS: A total of 96 eyes of 96 patients were included, and overall 846 VFs were examined. The paired t-test performed comparing the MD index of all the VFs against half of them did not show statistical significance (P=0.537). The high-frequency group comprised 39 eyes (average VF 11.05±1.91, average time interval 0.76 years) while the low-frequency group comprised 57 eyes (average VF 6.95±0.6, average time interval 1.21 years). The analysis of the MD trend in the high-frequency patients showed significance (P=0.017); the low-frequency group did not show statistical significance (P=0.08). CONCLUSION: The number of VFs in a determined time interval was not significant. However, a greater frequency of tests provides a predictive evaluation of the rate of progression of early manifestation open-angle glaucoma

Surgical treatment of a rare case of bilateral ptosis due to localized ocular amyloidosis

We describe a rare case of a 31-year old woman with bilateral ptosis due to localized amyloidosis. She referred a nine-year history of ptosis and surgical treatment with frontalis suspension three years previously. Following complete ophthalmological examination and evaluation of the ptosis we carried out tarsal and fornix biopsy, which revealed accumulation of a weakly eosinophilic amyloid positive substance. We performed surgical correction using the levator aponeurosis–Müller’s muscle complex re-adaptation technique and amyloid substance debulking in all the palpebral layers in the left eye. The material obtained was stained with hematoxylin–eosin, Congo Red, PAS and alpha-actin, which confirmed amyloid deposition. Successively, the right eye was operated in the same manner and entropion was managed by dissection and removal of amyloid from subconjunctival layers. Five years following surgery, the corrective procedure for ptosis was still effective. Surgical treatment of ptosis is very complex and requires precise indications. Appropriate management depends on the etiopathogenesis, accurate diagnosis, and clinical findings

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

A review of the role of ultrasound biomicroscopy in glaucoma associated with rare diseases of the anterior segment

Ultrasound biomicroscopy is a non-invasive imaging technique, which allows high-resolution evaluation of the anatomical features of the anterior segment of the eye regardless of optical media transparency. This technique provides diagnostically significant information in vivo for the cornea, anterior chamber, chamber angle, iris, posterior chamber, zonules, ciliary body, and lens, and is of great value in assessment of the mechanisms of glaucoma onset. The purpose of this paper is to review the use of ultrasound biomicroscopy in the diagnosis and management of rare diseases of the anterior segment such as mesodermal dysgenesis of the neural crest, iridocorneal endothelial syndrome, phakomatoses, and metabolic disorders

Rare diseases leading to childhood Glaucoma. epidemiology, pathophysiogenesis, and management

Noteworthy heterogeneity exists in the rare diseases associated with childhood glaucoma. Primary congenital glaucoma is mostly sporadic; however, 10% to 40% of cases are familial. CYP1B1 gene mutations seem to account for 87% of familial cases and 27% of sporadic cases. Childhood glaucoma is classified in primary and secondary congenital glaucoma, further divided as glaucoma arising in dysgenesis associated with neural crest anomalies, phakomatoses, metabolic disorders, mitotic diseases, congenital disorders, and acquired conditions. Neural crest alterations lead to the wide spectrum of iridocorneal trabeculodysgenesis. Systemic diseases associated with childhood glaucoma include the heterogenous group of phakomatoses where glaucoma is frequently encountered in the Sturge-Weber syndrome and its variants, in phakomatosis pigmentovascularis associated with oculodermal melanocytosis, and more rarely in neurofibromatosis type 1. Childhood glaucoma is also described in systemic disorders of mitotic and metabolic activity. Acquired secondary glaucoma has been associated with uveitis, trauma, drugs, and neoplastic diseases. A database research revealed reports of childhood glaucoma in rare diseases, which do not include glaucoma in their manifestation. These are otopalatodigital syndrome, complete androgen insensitivity, pseudotrisomy 13, Brachmann-de Lange syndrome, acrofrontofacionasal dysostosis, caudal regression syndrome, and Wolf-Hirschhorn syndrome

Pseudoexfoliation Syndrome and Pseudoexfoliation Glaucoma. A Review of the Literature with Updates on Surgical Management

Pseudoexfoliation syndrome (PES) is a systemic disorder caused by progressive accumulation of extracellular material over various tissues. PES usually determines increased intraocular pressure, changes in the anatomical aspects of the optic nerve, and visual field alterations leading to the diagnosis of pseudoexfoliation glaucoma (PEG). Use of topical medical treatment usually leads to poor results in terms of long-term follow-up but many surgical techniques, such as Argon Laser or Selective Laser Trabeculoplasty, have been proposed for the management of PEG affected patients. The present paper is a review on the pseudoexfoliation syndrome and pseudoexfoliation glaucoma with an update on surgical management

Inner Retinal Layer Thickness Alterations in Early Age Related Macular Degeneration in Eyes with Subretinal Drusenoid Deposits or Conventional Drusen

The purpose of this study was to evaluate central and parafoveal inner retinal layer thickness in patients with subretinal drusenoid deposits (SDD) or conventional drusen (CD). Participants underwent comprehensive ophthalmoscopic examination. Evidence of SDD or CD was evaluated with near infrared reflectance and spectral domain optical coherence tomography. Quantification of subfoveal lesions was made through a qualitative analysis of vertical and horizontal SD-OCT scans centered on the fovea. Inner retinal layer macular thickness measurements were obtained for central circles with 1, 3, and 5 mm diameter. Continuous variables were compared by the analysis of covariance (ANCOVA) with post-hoc Tukey HSD correction for multiple comparison analysis. Fifty-five patients were included in the study; 18 eyes with SDD alone, 19 eyes with CD alone, and 18 eyes of healthy age-matched subjects. Eight eyes with SDD (44%) and 13 eyes with CD (68%) had subfoveal lesions. There was significant reduction in the inner retinal layer thickness in the central 1mm area and in the superior 3 mm area in the SDD and CD group compared to controls. In conclusion the inner retinal layer is thinner in the central macula and in the superior parafovea in eyes

Optical Diagnostics in Herpetic Keratitis

One of the leading global causes of vision impairment due to anterior segment disease is herpes simplex keratitis (HSK). The routine clinical method in the diagnosis of HSK is examination of the eye using slit lamp biomicroscopy; nevertheless, this is a subjective examination and can potentially lead to an erroneous diagnosis. Optical devices such as in vivo confocal microscopy and anterior segment optical coherence tomography are among the additional diagnostic tools that provide a valuable resource in the diagnosis and management of the condition. In research settings, these technologies have already enhanced our understanding of the microscopic causes of numerous common in vivo observations. This review aims to highlight the multiple emerging clinical and research applications for optical imaging devices in HSK