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Ophthalmology at Point of Care
Retinal astrocytic hamartomas are rare, benign tumors of glial origin. These lesions are often associated with systemic syndromes, including tuberous sclerosis complex and neurofibromatosis type 1, but also may be encountered in otherwise healthy individuals as an acquired lesion. We present the following case to illustrate clinical and imaging characteristics typically seen in astrocytic hamartoma found as “optic nerve incidentaloma” in an otherwise healthy teenager.
Ophthalmology Reports, 2017
The article describes a clinical case of long-term undiagnosed tuberous sclerosis with retinal astrocytic hamartoma. Etiology, pathogenesis, clinical and pathomorphological diagnostic criteria of tuberous sclerosis are also described.
Archives of Ophthalmology, 2012
Ophthalmology, 2006
Clinical Ophthalmology, 2011
Retinal astrocytic hamartomas are benign intraocular tumors classically associated with phacomatoses. Their appearance in isolation is rare. An association between astrocytic hamartomas and retinitis pigmentosa (RP) has been described previously, but controversy still exists regarding the precise nature of these lesions in RP patients. The authors present a case report of a 24-year-old male with RP and multiple bilateral lesions clinically consistent with retinal astrocytic hamartomas. Optical coherence tomography revealed multiple bilateral hyper-reflective intraretinal masses, loss of retinal architecture, intralesional calcifications, and prominent optical posterior shadowing. Comprehensive systemic evaluation was negative for phacomatoses. However, given that a biopsy was not performed, the diagnosis of optic nerve head drusen could not be excluded.
International …, 2001
Background: Retinal tumors are occasionally seen in patients with neurofibromatosis type-1 (NF-1). These are usually astrocytic hamartomas or angiomas. Combined hamartoma of the retina and retinal pigment epithelium are tumors also described in NF-1, but this ...
2009
INTRODUCTION Neurofibromatosis type 1(NF I) is a common autosomal dominant condition that affects about 1 in 5000 people. Optic nerve glioma is one of the landmark lesions characterizing this disease. They usually occur in children during the first decade of life and are seen in 11–30% of patients with NF I. When associated with NF1, the tumors are more often benign, can be multifocal and bilateral, and are usually found within the optic nerves although they can occur anywhere along the optic pathway, all the way to the visual cortex. Although the unilateral occurrence is a finding quite common in this population (up to 30%) bilateral involvement of the optic nerves is rare. Further, the optic gliomas in NF1 are self-limiting lesions with a very slow growth (which stops in adolescence). As a result exophtalmus is a very rare finding and they require surgical intervention in a very small number of cases.
IntechOpen, 2018
The optic nerve, also known as the second cranial nerve, is composed of axons that transmit visual information from the neurosensory retina to the visual cortex. There are multiple pathologies that can affect the human optic nerve. Congenital anomalies of the optic nerve include myelinated nerve fibers, morning glory syndrome, optic nerve choristoma, optic nerve coloboma, optic nerve hypoplasia and aplasia, and others. Tumors that can affect the optic nerve (ON) may occur primarily from within the nerve itself, from the surrounding optic nerve sheath (ONS), or secondarily spreading to the nerve from a distant site. They include optic pathway glioma, medulloepithelioma, oligodendroglioma, optic nerve sheath meningioma, and others. Here in this chapter, we will review the optic nerve anatomy, embryology, and physiology in addition to assessment of optic nerve function. Moreover, the clinical features, imaging findings, pathology, and treatment options of the most common and some rare congenital anomalies and primary tumors of the ON and sheath will be reviewed.
Ophthalmic Genetics, 2008
Retrospective observational case reports. Results: Two unrelated children presented to ophthalmology with isolated combined hamartomas of the retina and RPE. Patient one presented to ophthalmology at the age of 2 years; by 4 years, he developed what was thought to be a plexiform neurofibroma and, with more than 6 café au lait spots, was diagnosed with neurofibromatosis type 1 (NF1). By the age of 5, he had developed bilateral vestibular schwannomas, and was diagnosed with NF2. Subsequent molecular testing revealed a truncating mutation in exon 13 (c.1396C>T; p.R466X) of the NF2 gene. Patient two presented to ophthalmology at the age of 7 months; by age 6 she had developed two subcutaneous masses on her forehead, a mass in her left lower abdomen, and in her gumline. Despite lack of pathological evidence of neurofibroma upon biopsy, molecular testing was initiated at age 6 and revealed a truncating mutation in exon 8 (c.734delA) of the NF2 gene in the blood. Conclusions: Bilateral combined hamartomas of the retina and retinal pigment epithelium (RPE) in a young child should alert the clinician to the possibility of neurofibromatosis type 2. The recognition of this rare finding as a presenting feature of NF2 can lead to earlier diagnosis, which is vital to appropriate surveillance and possible surgical intervention.
American Journal of Ophthalmology, 1980
Malignant gliomas of the optic nerve pathways are rare in adults,1.2 and differ from benign optic gliomas that occur in childhood and are considered by some to be hamartomas with self-limiting growth and morbidity.F':" Adult optic glioblastomas are aggressive, causing rapid visual deterioration and subsequent death. They are rarely diagnosed before craniotomy or autopsy.1.2.5 Hoyt and associates 1 examined the clinical and pathologic nature of this tumor and defined a characteristic syndrome consisting of the following: (1) occurrence in middle-aged men; (2) initial signs and symptoms resembling optic neuritis; (3) blindness in two to four months; (4) death in six to nine months. Recent reports indicate that this tumor can occur with visual loss in older individuals of either sex despite normal ophthalmologic and neuroradiologic results.v" We describe herein five cases of malignant optic pathway gliomas, from a single institution, all diagnosed before death. We compared the clinical courses and pathologic features with those in other series. MATERIAL AND METHODS Biopsy specimens from four cases were examined. In three patients (Cases 2-4),
American Journal of Ophthalmology, 2012
Purpose-To describe and correlate the features of astrocytic hamartomas using multimodal imaging. Design-Prospective, non-comparative, observational case series. Methods-This was a single-center study of 4 patients (8 eyes) with tuberous sclerosis complex. A complete ophthalmologic examination, fundus photography, fundus autofluorescence (FAF), infrared imaging, and spectral domain optical coherence tomography (SD-OCT) were performed for each patient. Images from each modality were analyzed and compared. Results-In 2 patients, infrared imaging and SD-OCT detected occult retinal astrocytic hamartomas that were not observed on clinical examination or color fundus photography. FAF demonstrated the greatest contrast between lesions and surrounding retina but failed to identity one occult lesion that was detected with infrared imaging and SD-OCT. SD-OCT revealed lesions arising from the retinal nerve fiber layer with overlying vitreous adhesions, hyperreflective dots, and optically empty spaces at all depths of the tumor. Hamartomas were hyporeflective on infrared imaging and hypoautofluorescent on FAF. FAF of some lesions demonstrated hyperautofluorescent spots. Conclusions-Infrared imaging and SD-OCT aid in the detection of astrocytic hamartomas that are not visible on clinical examination or color fundus photography. SD-OCT enhances visualization of structural details. FAF is a useful adjunctive test to obtain greater contrast between
Saudi Journal of Ophthalmology, 2009
Retinal glial tumors and pseudotumors can be classified into astrocytic hamartoma, acquired retinal astrocytoma, massive gliosis, and focal nodular gliosis. Each has different clinical manifestations. Astrocytic hamartoma is usually seen patients who have some manifestations of tuberous sclerosis complex (TSC). It can occur as a noncalcified or calcified variety, and often a combination of the two, and has fairly typical features with fluorescein angiography, ultrasonography, and optical coherence tomography. Although it is generally a stationary lesion, an aggressive variant seen in very young children with TSC can lead to exudative retinopathy, retinal detachment, and neovascular glaucoma. Acquired astrocytoma general occurs in somewhat older individuals who do not have TSC. Like the aggressive form of astrocytic hamartoma it can lead to exudative retinopathy and exudative retinal detachment. Pseudoneoplastic diffuse retinal gliosis can occur as massive glial proliferation in eyes with prior trauma, Coats disease, retinal angiomatosis and other conditions and often occurs in blind eyes. Pseudoneoplastic focal retinal gliosis is characterized by a very superficial, white, noncalcified lesion in otherwise normal eye in somewhat older individuals. Recognition of these glial lesions is important because they can resemble malignant tumors and have different clinical courses and complications.
BJR|case reports, 2021
Combined hamartoma of the retina and retinal pigment epithelium is a rare benign ocular tumour in children, composed of glial cells, vascular tissue, and sheets of pigmented epithelial cells. Although generally thought to be congenital, acquired cases are known to exist. It usually presents with reduced visual acuity and/or strabismus and it can be associated with several syndromes, including Neurofibromatosis Type 2. There is no consensus on the management of combined hamartoma of the retina and retinal pigment epithelium. We present a case, including MRI features, of a 4,5-years-old girl with a combined hamartoma of the retina and retinal pigment epithelium. 2 of 3 birpublications.org/bjrcr
Indian Journal of Ophthalmology, 2016
Neurofibromatosis type 2 (NF-2) is characterized by multifocal proliferation of neural crest-derived cells. The characteristics finding of NF-2 is bilateral vestibular schwannomas. Combined hamartoma of retina and retinal epithelium (CHRRPE) is another associated finding. A 9 year-old-male child presented with left eye decreased vision for 3 months. Visual acuity was 0.0 and 0.8 LogMAR in the right and left eye, respectively. Left fundus showed an elevated, pigmented lesion with surface wrinkling and vascular tortuosity suggestive of CHRRPE with multiple presumed retinal astrocytic proliferations in mid-periphery. He had multiple café-au-lait spots. Optical coherence tomography confirmed clinical findings. Magnetic resonance imaging brain showed bilateral acoustic neuroma. Recognition of this rare finding as presenting feature of NF-2 can lead to earlier diagnosis which is vital to appropriate surveillance and possible surgical intervention. It is recommended that children with CHRRPE be screened for NF-2.
RETINAL Cases & Brief Reports, 2016
Purpose: To report a case showing a very rare association of chorioretinal coloboma and retinal capillary hemangioma in a previously healthy patient. Methods: Observational case report. Results: A 21-year-old woman presented at our clinic for vision screening. She had a history of bilateral chorioretinal coloboma with amblyopia in her left eye. Her bestcorrected visual acuity was 20/25 in her right eye and 20/200 in her left eye. On slit-lamp examination, iris coloboma was observed in the left eye. Fundus evaluation showed inferior chorioretinal coloboma in both eyes, and an elevated, round, and orange-red retinal lesion with feeder vessels localized in the midperipheral region of the right eye. The patient was diagnosed as having solitary retinal capillary hemangioma and underwent argon laser therapy for treating the tumoral lesion. Diagnostic studies were negative for von Hippel-Lindau disease. This is the first reported case of solitary retinal capillary hemangioma associated with bilateral chorioretinal coloboma. Conclusion: Chorioretinal coloboma is a congenital defect of the eye caused by improper closure of the embryonic fissure. Retinal capillary hemangioma is a vascular retinal tumor that may occur sporadically or as part of the von Hippel-Lindau syndrome. We report a rare association of chorioretinal coloboma and retinal capillary hemangioma in a previously healthy patient.
Retina, 2017
Purpose: To detect, describe, and classify the morphologic characteristics of astrocytic hamartomas in tuberous sclerosis complex, using both spectral-domain optical coherence tomography (OCT) and infrared images. Methods: Ten subjects (20 eyes) with tuberous sclerosis complex underwent a complete ophthalmologic examination and multimodality imaging with spectral-domain OCT and infrared images. The imaging protocol included a 30°scan angle of the posterior pole and of the four quadrants. Line scans, detail, raster, and posterior pole patterns were used. The identified astrocytic hamartomas were described and characterized qualitatively and quantitatively. Results: Forty-four hamartomas were detected in 8 patients. In five cases, lesions were bilateral. Thirty of these hamartomas had not been revealed by previous ophthalmoscopy. Through multimodality imaging, it was possible to define multiple lesions with characteristic optical reflective qualities. All the 44 hamartomas were measur...
Open Journal of Ophthalmology, 2012
Aim: To present a case of hamartoma of the optic disc and Retinal Pigment Epithelium (RPE) and follow up of the visual function over three-years period. Methods: A seventeen-year-old boy has observed reduced visual acuity in his left eye. The visual acuity was 0.2 and there was RAPD in the left eye. Fundoscopy revealed an elevation of the optic disc obscuring disc vessels with epiretinal gliosis. Fluorescein angiography demonstrated hyperfluorescent saccular dilatations with leakage in the late phase. Ocular Coherence Tomography (OCT) showed hyperreflective elevation of the optic disc and epiretinal membrane. There was a juxtapapillary scotoma in Semi-automated Kinetic Perimetry (SKP). There was no systemic diseases. Results of blood tests, CT and MRI of CNV were normal. Results: After 3 years period of the follow-up the visual acuity was 0.1 and there was a progression of the visual field defect to the altitudinal scotoma in the upper hemisphere. Fluorescein anhiography and OCT revealed the same. Conclusion: Hamartoma of RPE and optic disc is a rare condition consisting of glial, vascular and RPE cells. It should be differentiated from optic disc oedema and vascular tumors of the retina. Assessment of the visual function is very important in the longitudinal follow-up.
Canadian journal of ophthalmology. Journal canadien d'ophtalmologie, 2018
Tumour shown extending into optic nerve at level of lamina cribrosa (HPS). Middle: Von Kossa stain for calcium shows calcification of optic nerve distal to globe. Bottom: Neurofilament immunostain indicates axonal diminution in the optic nerve distal to globe. HPS = hematoxylin, phloxine and saffron.
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