An accidental diagnosis of optic nerve meningioma in a patient affected by thyroid eye disease

A 42-year-old woman presented to our hospital owing to a history of right-sided proptosis of 4 months duration, reporting no previous trauma, fever, or recent sinusitis. Her medical record included a diagnosis of Graves’ disease. The best corrected visual acuity (BCVA) was 20/20 and a 30.2 visual field test was normal. A 3-Tesla magnetic resonance imaging (MRI) revealed an orbital apex meningioma approaching the walls of the sulcus chiasmaticus. A subsequent 60.4 perimetry test showed bilateral nasal visual field defects, thus confirming the involvement of the optic nerve. The reported case focuses on the differential diagnosis with Thyroid Eye Disease (TED) and the subsequent follow-up

Correspondence

We read with interest the article by Touzé et al. entitled ‘Retinal vascular abnormalities in children with Neurofibromatosis type 1’. The Authors assessed clinical retinal microvascular abnormalities (RVAs) characteristics in a large series of children affected by NF1 on near-infrared imaging. The overall prevalence of RVAs was 37.1% in accordance with the results of Moramarco et al. This is notable as vascular tortuosity is a phenotype reported with variable appearance and frequency in clinical studies as opposed to corkscrew pattern, for whom an excellent interobserver agreement was observe

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

Gorlin-Goltz syndrome: clinical findings in a Italian population

Gorlin-Goltz syndrome or Nevoid basal cell carcinoma syndrome (NBCCS) is a rare inherited autosomal dominant genodermatosis, with nearly complete penetrance but variable expression. NBCCS results from mutations in the Patched 1 (PTCH1) gene (40%–88% of NBCCS cases with higher estimates closer to 90% in more recent studies). Recently, mutations in suppressor of fused gene (SUFU) and PTCH2 have been found in patients with NBCCS. The estimated prevalence of the disease ranges between 1/57.000 and 1/256.000, with a male-to-female ratio of 1:1. The clinical features arise in the first, second, or third decades of life.1,2 This syndrome includes a wide spectrum of defects encompassing the skin, eyes, central nervous and endocrine system, and bones. Diagnosis is based on fulfilment of: two major diagnostic criteria and one minor diagnostic criterion or one major and three minor diagnostic criteria. Identification of a heterozygous germline PTCH1 or SUFU pathogenic variant on molecular genetic testing establishes the diagnosis if clinical features are inconclusive.3 In this study we sought to investigate clinical aspects in Italian patients with NBCCS. We reviewed all clinical charts of 40 NBCCS patients followed by February 1983 to February 2020 at the “Sapienza” University of Rome, Italy. All patients were investigated in a similar way with periodic evaluations that included dermatological, dental, ophthalmologic, gynecological and cardiological evaluation. Clinical examination included oral inspection, measurement of head circumference and interpupillary distance, examination of the skin for basal cell carcinomas (BCCs), and pits on the palms and soles. Radiographs of the chest, skull, spine, hands, pelvic (female) and teeth panorex were take

Hypoxia-dependent drivers of melanoma progression

Hypoxia, a condition of low oxygen availability, is a hallmark of tumour microenvironment and promotes cancer progression and resistance to therapy. Many studies reported the essential role of hypoxia in regulating invasiveness, angiogenesis, vasculogenic mimicry and response to therapy in melanoma. Melanoma is an aggressive cancer originating from melanocytes located in the skin (cutaneous melanoma), in the uveal tract of the eye (uveal melanoma) or in mucosal membranes (mucosal melanoma). These three subtypes of melanoma represent distinct neoplasms in terms of biology, epidemiology, aetiology, molecular profile and clinical features.In this review, the latest progress in hypoxia-regulated pathways involved in the development and progression of all melanoma subtypes were discussed. We also summarized current knowledge on preclinical studies with drugs targeting Hypoxia-Inducible Factor-1, angiogenesis or vasculogenic mimicry. Finally, we described available evidence on clinical studies investigating the use of Hypoxia-Inducible Factor-1 inhibitors or antiangiogenic drugs, alone or in combination with other strategies, in metastatic and adjuvant settings of cutaneous, uveal and mucosal melanoma.Hypoxia-Inducible Factor-independent pathways have been also reported to regulate melanoma progression, but this issue is beyond the scope of this review.As evident from the numerous studies discussed in this review, the increasing knowledge of hypoxia-regulated pathways in melanoma progression and the promising results obtained from novel antiangiogenic therapies, could offer new perspectives in clinical practice in order to improve survival outcomes of melanoma patients

Lisch nodules in Schwannomatosis: a new manifestation

Schwannomatosis is a syndrome characterized by presence of schwannomas in the absence of bilateral vestibular schwannomas and meningiomas. Schwannomas interest frequently peripheral nerves (90%) and spinal nerves (75%). Schwannomatosis are generally sporadic; in 15 - 25% are familiar. The genes involved are SMARCB1 (40-50% of familial) and LZTR1. The reported phenotype continues to expand and evolve. We report the case of a patient with Schwannomatosis and Lisch nodules, typical manifestation of NF1

Electrophysiological study of visual pathways in nevoid basal cell carcinoma syndrome patients

Introduction: Gorlin-Goltz syndrome (GGS) also known as nevoid basal cell carcinoma syndrome (NBCCS) is a complex rare genetic disorder characterized by a wide range of clinical and radiological manifestations. Ophthalmological alterations have always been reported, but no study on the eventual pattern visual evoked potentials (pVEPs) abnormalities has yet been published.Purpose: The purpose of the study was to evaluate the functionality of the optic pathways in a group of NBCCS patients through pattern reversal VEPs, after a thorough exclusion of subjects with preexisting ocular and optic pathways pathologies.Methods: Nineteen NBCCS patients (31 eyes) and 20 healthy controls (40 eyes) have been recruited for this study. All subjects underwent an evaluation of the functionality of the optic pathways through pVEPs with small (120'), medium (60'), and large (15') check size stimulation.Results: NBCCS patients showed a statistically significant alteration in the transmission of the macular pathway function when compared to controls. PVEPs analysis confirmed a reduced amplitude and an increased latency of the P100 component, suggesting an involvement of the visual pathway even in the absence of ocular clinical manifestations.Conclusion: Visual pathways may have been affected both by a subclinical myelination deficit, determined directly by the genetic alteration, as well as by neurological abnormalities typical of this syndrome. Further studies are warranted

Neurofibromatosis type 1: ocular electrophysiological and perimetric anomalies

Introduction: Neurofibromatosis type 1 (NF1) is a multisystemic disease caused by the mutation of Nf1 gene located on chromosome 17q11.2. The mutation determines the loss of function of the protein neurofibromin with consequent uncontrolled cellular proliferation. Patients are characterized by a wide range of dermatological, neurological, and ophthalmological symptoms. Purpose: The aim of the study was to evaluate, through pattern visual evoked potentials (p-VEPs) and frequency doubling technology (FDT) Matrix perimetry, the objective and psychophysical functionality of the optic pathways in a group of NF1 patient. Methods: The study group consisted of 26 patients affected by NF1 and 17 healthy controls. Each patient underwent a complete ophthalmological examination, p-VEPs with the evaluation of amplitude and latency of the P100 wave, and FDT perimetry, with the evaluation of central sensitivity (CS), mean deviation (MD), pattern standard deviation (PSD) and glaucoma hemifield test (GHT). Results: NF1 patients showed a statistically significant alteration in the transmission of visual impulse. P-VEPs results highlighted a reduced amplitude and an increased latency of the P100 wave, suggesting an involvement of the visual pathway. Visual field analysis showed a significant reduction in all the observed parameters as well (CS, MD, PSD, and GHT). Conclusion: The present study showed, in NF1 patients, a qualitative and quantitative alteration in the conduction of stimuli through the visual pathways. The observed alterations are present, although, only at a subclinical level. None of the patients included in the study showed any manifest visual deficit nor had any concomitant pathology that might have affected the outcome of the study. In conclusion, electrophysiological exams and computer perimetry may take part, alongside a wider array of exams, in the differential diagnosis and later monitoring of NF1

Ophthalmic manifestation in neurofibromatosis type 2

Neurofibromatosis type 2 (NF2) is a genetically determined tumor-predisposing syndrome. Ocular manifestations include cataracts, epiretinal membranes, retinal hamartomas, optic disk gliomas, and optic nerve sheath meningiomas. Moreover, optic disk edema, optical atrophy, motility disorders, pupil and lid dysfunction, and neurotrophic keratitis can be observed as indirect signs. An observational study was conducted with the aim to collect clinical data and describe the most frequent NF2 ocular manifestations. Fourteen patients affected by NF2, according to the Manchester criteria, were enrolled. All patients underwent complete ophthalmologic and orthoptic evaluation and a spectral domain optical coherence tomography. Ocular manifestations were present in all patients. The slit lamp evaluation of the anterior segment highlighted cataracts in five patients, keratitis in two patients, corneal leukoma in two patients, and corneal pannus in one patient. Fundus oculi and OCT evaluation identified epiretinal membranes in four patients, vitreoretinal tufts in three patients, optic nerve edema in one patient, and retinal hamartoma in one patient. Moreover, the orthoptic evaluation identified different types of ocular motility disorders in seven patients. This is a descriptive study of a rare disease with poor previous literature. Clinical data are shown, emphasizing the role of NF2-specific ophthalmological and orthoptic findings to help establish an early diagnosis