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A clinical and morphological description of a case of pilocytic astrocytoma (astrocytic hamartoma) of the retina and optic nerve in an 11-year old girl is presented. The clinical and instrumental characteristics of the tumor are determined by ultrasound and MRI tests. Detailed cytological and pathomorphological description of the tumor, which is rarely observed, is given. The tumor poses a threat to the eye and requires that the eyeball be removed.

Congenital disorder of glycosylation-Ia (CDG-Ia) is a rare autosomal recessive genetic disorder, characterized by systemic and ophthalmological abnormalities. Here, we report multiple retinal astrocytic hamartomas as a new retinal finding in an adolescent affected by congenital disorder of CDG-Ia. A 15-year-old boy affected by CDG-Ia underwent full ophthalmic examination, full field electroretinography (ERG) evaluation and retinal multimodal imaging, including: fundus photography, spectral domain optical coherence tomography (SD-OCT) and blue fundus autofluorescence (FAF). Blue FAF showed multiple papillary and iuxtapapillary bilateral hyper-FAF lesions, corresponding to hyperreflective thickening of the retinal nerve fiber layer, with internal optical empty spaces and posterior dense optical shadowing at SD-OCT. These imaging findings were consistent with retinal astrocytic hamartomas. Scotopic ERG response was significantly reduced in both eyes. Macular edema and absence of the retinal outer segments layer were also detectable. Retinal multi-modal imaging provides additional insights about retinal involvement of patients affected by CDG-Ia. In particular, this case shows the presence of multiple retinal astrocytic hamartomas.

Retinoma (or retinocytoma) is a rare benign intraocular tumor with characteristic features and can be diagnosed clinically. In this article, we present a case report and a review of literature about retinoma. The case is about an incidentally diagnosed retinoma in an asymptomatic young female who presented for vision checkup and was found to have an intraocular translucent-grey, elevated mass extending into the vitreous cavity from the retina with the characteristic features of retinoma. The main differential diagnosis included retinoblastoma and astrocytic hamartoma. The mass showed no growth over a period of 6 months of follow up with colored fundus photography and ultrasound. This case is, to the best of our knowledge, the first case of retinoma diagnosed in Jordan.

We report a case of a 7-year-old boy with neurofibromatosis 2 who was referred to our pediatric retina clinic for deteriorating vision of his left eye. Fundoscopy revealed a gray epiretinal and vitreous opacity extending to the fovea in the left eye. Optical coherence tomography (OCT) demonstrated an epiretinal membrane (ERM) with a distinct tissue plane and overlying vitreoretinal strands, consistent with combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). Intraoperative OCT-guided pars plana vitrectomy and membrane peel were performed and the tissue was sent for histopathologic evaluation. Intraoperative scleral-depressed examination also revealed multiple elevated, white-gray, semitranslucent masses near the ora serrata, consistent with astrocytic hamartomas. Histopathologic analysis of the epiretinal tissue revealed glial origin. Recognition of any of these lesions in a young patient should prompt neurologic and genetic evaluation.

Purpose: To review the current state of the art of retinal tumors with respect to clinical features, imaging, and management. Methods: Review of published literature and personal experience from an ocular oncology service. Results: There are several tumors that arise from the sensory retina including those of glial origin (astrocytic hamartoma, acquired astrocytoma, and solitary circumscribed retinal astrocytic proliferation), neural origin (retinoblastoma), and vascular origin (hemangioblastoma, cavernous hemangioma, racemose hemangioma, and vasoproliferative tumor). Most retinal tumors are benign with the exception of retinoblastoma and retinal metastasis. Some retinal tumors are associated with systemic oculoneurocutaneous syndromes such as tuberous sclerosis complex (TSC), 13q deletion syndrome, Von Hippel–Lindau disease, and systemic cavernous and racemose hemangioma syndromes with ocular, cutaneous, neurologic, and other findings. Regarding management, recent data indicate that retinal astrocytic hamartoma and retinal achromic patch are key to the diagnosis of TSC and imply greater risk for brain and kidney tumors. Some children with TSC respond to mammalian target of rapamycin inhibitors, controlling brain, kidney, and eye tumors. Children with retinoblastoma are all screened genetically, and systemic evaluation is provided for detection of metastasis and secondary-related tumors. Newer chemotherapy regimens by intravenous or intra-arterial routes have revolutionized retinoblastoma control. Retinal vascular tumors are uncommon but can have serious systemic implications. Therefore, imaging of the brain for related cerebellar hemangioblastoma, midbrain racemose hemangioma, or multifocal cavernomas is performed. Genetic testing for each disease can be revealing. Conclusions: Retinal tumors are often benign, can be recognized by clinical and imaging features, and can be associated with important systemic syndromes.

Tuberous sclerosis or tuberous sclerosis complex (TSC), one of the phakomatoses, is characterized by hamartomas of the heart, kidney, brain, skin and eyes. Ophthalmologic examinations are required in all cases of TSC. Retinal hamartomas are the most common ocular finding in tuberous sclerosis. The majority of hamartomas are non-progressive; however, lesions with subretinal fluid and progression have been reported. This paper details the genetics, clinical features and ocular findings of TSC and reviews potential therapeutic options for ophthalmic manifestations.

Purpose To evaluate the findings of astrocytic hamartoma in the setting of gyrate atrophy, including details of optical coherence tomography angiography (OCTA). Observations Multimodal imaging was obtained on a 20-year-old woman with genetically-confirmed gyrate atrophy. Dilated fundus exam was performed, followed by ultra-widefield color and green autofluorescence imaging and OCTA of bilateral peripapillary and optic disc lesions. Clinical and imaging findings were consistent with gyrate atrophy. The bilateral peripapillary and optic disc lesions had a glistening, translucent, and mulberry-like appearance. OCTA imaging of these lesions clearly demonstrated an intrinsic vascular network and hyporeflective spaces within the lesion, which could not be seen on routine examination. Conclusions and importance OCTA was used to noninvasively diagnose astrocytic hamartoma in this patient with gyrate atrophy by showing the intrinsic vasculature and hyporeflective spaces of the lesion. This imaging modality can help differentiate astrocytic hamartoma from other lesions that typically lack intrinsic vascularity, such as optic disc drusen.

Retinal astrocytic hamartomas (RAH), also known as retinal astrocytomas, are tumors of retinal glial cells, arising from astrocytes in the nerve-fiber layer. The lesions are benign in nature and are thought to be congenital in origin. They are often diagnosed incidentally during routine examination and rarely cause any symptoms. They can be solitary or multifocal and often show no change in decades of follow-up. Rarely, RAH can exhibit unusual characteristics such as rapid growth, neovascularization, retinal exudation, and retinal detachment. There are no reports of metastasis of RAH (Shields et al. 2006).

This is a case report of a 15-year-old boy with multiple small peripapillary white growths in the right eye in the setting of gyrate atrophy. Over 3 years of follow-up, these lesions became more clearly delineated as astrocytic hamartomas of the retina and optic disc. In the setting of gyrate atrophy, astrocytic hamartomas are extremely rare. This report represents the second published case and includes characterization of these tumors using spectral-domain optical coherence tomography. [ Ophthalmic Surg Lasers Imaging Retina . 2015;46:387–390.]

Complex tuberous sclerosis is an autosomal phacomatosis dominant, characterized by the development of benign tumors with astrocytic hamartoma type in different organs.We represent the case of a male patient of 30 years old Followed since childhood for complex tuberous sclerosis.The patient benefited from a surgical treatement for his facial lesions with an excellent post operative evolution in only 3 months.

The retinal tumor provisionally referred to as presumed solitary circumscribed retinal astrocytic proliferation (PSCRAP) is a rare, benign lesion of unknown pathogenesis and histopathology. The authors present a case of PSCRAP that was analyzed with spectral-domain optical coherence tomography (OCT), which demonstrated a demarcation between the mass and the retinal nerve fiber layer. This finding stands in contrast to previous descriptions using time-domain OCT, suggesting that this tumor may originate from mid-retinal layers rather than the nerve fiber layer. In addition, the OCT of PSCRAP is distinct from that of astrocytic hamartoma associated with tuberous sclerosis complex. [ Ophthalmic Surg Lasers Imaging Retina . 2015;46:586–588.]

Background To present a coincidence of macular telangiectasia type 2 and solitary retinal astrocytic hamartoma in one patient. Case presentation A 50-year-old woman was examined in the Department of Ophthalmology of University hospital Kralovske Vinohrady for complaints of metamorphopsia in her left eye. Her uncorrected visual acuity (VA) was 4/4 on Early Treatment Diabetic Retinopathy Study charts (ETDRS), on the retina of her left eye white, prominent, partially calcified tumour 1 disc diameter in diameter, 1,5 disc diameter from the foveola was detected on the retina. In the macular region of both eyes, parafoveal greying with crystalline deposits and changes in retinal vasculature were visible. We performed following examinations: fluorescein angiography (FA), B-scan ultrasound, spectral domain optical coherence tomography (SD-OCT) including photo documentation. FA showed partial hyperfluorescence of mulberry-like surface of the tumour typical for retinal astrocytic hamartoma. Parafoveally in both eyes, leakage from parafoveal telangiectasia was apparent. SD-OCT showed cystoid space in the macular region of both eyes as well as changes in inner and outer photoreceptor segment junction in left eye. SD-OCT of the tumour showed proliferation in retinal nerve fibre layer with normal structure of underlying retinal layers and choroid. Ultrasound examination of the tumour detected solid, highly echogenic prominent tumour with high reflectivity and acoustic shadow. Conclusion A coincidence of two relatively rare clinical units, macular telangiectasia type 2 and solitary astrocytic hamartoma was detected as a unique and rare observation.

Aim: To report photographically the evolution of an astrocytic hamartoma of the left optic nerve head over a 2-year follow-up in a patient with retinitis pigmentosa. Methods: A 14-year-old boy was seen in the medical retina clinic with a 3-year history of night blindness. Best corrected visual acuity was 6/18 in both eyes. Colour vision was normal in both eyes and confrontation fields showed peripheral constriction. Fundus examination revealed bone spicule pigmentary changes at the retinal mid periphery typical of retinitis pigmentosa and superficial globules at the margins of both optic nerve heads. Electrodiagnostic tests confirmed moderately severe rod cone dystrophy with macular involvement bilaterally. Results: Two years later, the ocular examination was unchanged except for the appearance of the optic nerve head lesion in the left eye. There was an increase in the size of the lesion which was diagnosed as an astrocytic hamartoma. Further investigations were recommended to exclude neurofibromatosis and tuberous sclerosis. Conclusion: Astrocytic hamartomas of the optic nerve head and optic nerve head drusen have both been described in patients with retinitis pigmentosa. They can be a diagnostic dilemma although drusen are more common (10%). To differentiate these two entities it is very important to document any growth during the follow-up period which is suggestive of astrocytic hamartoma rather than optic disc drusen.

Six cases with characteristic fundus pathologies are presented and discussed using multiple choice questions.

PURPOSE The purpose of this study was to report two unusual cases of cavitations within astrocytic hamartoma, a feature that causes the tumor to appear cystic. To our knowledge, this is the first report on cavitary astrocytic hamartoma. METHODS In this observational case report, we identify two cases of cavitary astrocytic hamartoma imaged recently with spectral domain-optical coherence tomography. RESULTS In both of our patients, the cavitary portion was visible clinically as an empty cavity surrounded by translucent tissue. Optical coherence tomography examination of both cases confirmed the presence of a cavity surrounded by tumor tissue. CONCLUSION In these two patients, optical coherence tomography showed a new feature of cavitation within retinal astrocytic hamartoma.

Retinal astrocytic tumors are benign tumors representing two clinical types: astrocytic hamartoma and “acquired” retinal astrocytoma. Retinal astrocytic hamartomas are frequently associated with tuberous sclerosis complex (TSC). “Acquired” retinal astrocytomas are rare astrocytic tumors that develop in somewhat older individuals who have no clinical manifestations of TSC or other systemic syndromes.

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.

Retinal astrocytic hamartomas are benign tumors of the retinal nerve fiber layer (NFL) that may be found in association with tuberous sclerosis (TS). We describe the spectral-domain optical coherence tomography (SD-OCT) features of type 1 astrocytic hamartomas in a child with TS that may aid in the diagnosis and follow-up of these lesions. Gradual, dome-shaped hyper-reflective elevations of the retinal NFL were seen on SD-OCT with subtle shadowing of the underlying tissues. In addition, the vitreous cortex showed focal adhesions to the surface of the tumor.

Context: Sunglasses should follow minimum requirements to sufficiently protect eyes. It is not known whether all items obtainable from the market are appropriately designed. Aims: To compare ultraviolet (UV)-protective properties of commercially available sunglasses obtained from authorized and unauthorized Iranian sellers. Settings and Study Design: An analytic-descriptive study performed in a metropolitan area (Tehran). Materials and Methods: Using a UV-visible standard spectrophotometer, the percentage transmittance was scanned between 280 and 400 nm in 348 pairs of nonprescription sunglasses (price range: 20–80 US$) obtained anonymously and randomly from authorized (permitted by the Ministry of Health, 189 pairs) and unauthorized (159 pairs) sellers in the Iranian capital city, Tehran. The Australian/New Zealand Standard (AS/NZS) and the American National Standards Institute [ANSI] standards were followed. Statistical Analysis: Chi-square test, independent samples t-test or Mann–Whitney U-test. Results: UV-protective properties of the sunglasses obtained from authorized sellers complied with AS/NZS and ANSI guidelines in 92.6% and 95.2% of items, respectively. The corresponding rates for sunglasses obtained from unauthorized sellers were 0% and 8.2%, respectively (P < 0.001 for both). The rate of defective polarizing capability of lenses was 27.4% in sunglasses obtained from authorized sellers versus 90.4% in sunglasses obtained from unauthorized sellers (P < 0.001). Neither brand nor price played significant contributions to UV protection/lens polarizing capability of sunglasses obtained from authorized sellers. Conclusions: Sunglasses provided by unauthorized sellers are alarmingly unreliable and could be potentially hazardous for the eye. Brand and price do not guarantee optimal protection against UV radiation or polarizing performance of the lens.

Human papillomavirus (HPV) infection is strongly associated with several human cancers; the most known genotypes involved being HPV 16 and HPV 18. We report the detection of HPV 52 in a sample taken from a 47-year-old patient with squamous cell carcinoma of the conjunctiva of the left eye. The method used for the detection of HPV was real time polymerase chain reaction. The evolution was favorable after surgical removal of the tumor and the patient was explained that long-term follow-up is essential to avoid recurrence.

Targeted therapy in retinoblastoma (RB) is widely accepted as the current management tool with an aim of increasing drug availability at the tumor location. Inevitably the effect is several times higher compared to systemic delivery of chemotherapeutic drugs and carries less systemic toxicity. Despite tremendous advancement in saving life, eye salvage in advanced RB especially with active vitreous seeds remains a challenge. The hypoxic environment of the vitreous and reduced vitreous concentration of the drugs delivered makes these tumor seeds resistant to chemotherapy. Direct delivery of chemotherapeutic drugs into the vitreous cavity aids to overcome these challenges and is progressively being accepted worldwide. However, intraocular procedure in RB was abandoned due to high risk of extraocular tumor dissemination. Recently, the forbidden therapeutic technique was re-explored and modified for safe use. Although eye salvage rate has tremendously improved after intravitreal chemotherapy (IVitC), retinal toxicity, and vision salvage are yet to be validated. In our preliminary report of intravitreal melphalan in 11 eyes, we reported 100% eye salvage and 0% recurrence with an extended 15 months mean follow-up. In this review, we analyzed published reports on IVitC in RB via PubMed, Medline, and conference proceedings citation index, electronic database search, without language restriction that included case series and reports of humans and experimental animal eyes with RB receiving IVitC.

The clinical picture and the results of follow-up examinations in 21 patients with an astrocytic hamartoma of the retina and/or disk are described. Fifty-one tumors were found; 7 of them (in 5 patients) initially appeared as homogeneous, whitish tumors, but later assumed a mulberry appearance. Follow-up in these patients was between 9 and 19 years. Depigmented lesions of the skin ("White Spots") were frequently seen at an early age and were especially helpful when a retinoblastoma had to be excluded in the differential diagnosis.

The clinical, ultrasonographic and histopathological features (including immunohistochemistry and transmission electron microscopy) are described in a solitary astrocytic hamartoma of the retina in a 3-year-old child who was otherwise normal. Focal calcification was detected by ultrasound and this contributed to a misdiagnosis of retinoblastoma. The small tumour was located within the nerve fibre layer at the posterior pole and consisted solely of uniformly distributed astrocytes with benign cytological characteristics. Calcospherites were found within the cytoplasm of the astrocytes. Vascular abnormalities included intimal fibroplasia of arterioles with calcification of the internal elastic lamina and widespread endothelial proliferation; such abnormalities have not been previously noted in tumours with this degree of differentiation. The histological features are compared with those in previous reports of this rare tumour.

Astrocytic hamartomas of the optic disc and optic disc drusen have both been previously described in patients with retinitis pigmentosa. We report a 16-year-old woman with retinitis pigmentosa in whom we were able to document photographically the growth of optic disc lesions over a fouryear period. The growth of these lesions suggests that they represent astrocytic hamartomas. The relationship of astrocyctic hamartomas and drusen of the optic disc in retinitis pigmentosa is discussed.

A 62-year-old woman known to have tuberous sclerosis had an ususual peripapillary retinal elevation in her left eye. The patient had no specific ocular symptoms and we considered the diagnosis of papilledema secondary to increased intracranial pressure. Retinal angiography established that she had a peripapillary exophytic retinal angioma associated with an epipapillary astrocytic hamartoma in this eye.

An EMI scan (computerized axial tomography) performed on a 75-year-old man with giant drusen (astrocytic hamartoma) of the left optic nerve clearly revealed a dense localized mass at the distal termination of the left optic nerve. The EMI scan proved to be an accurate, noninvasive technique for neuro-ophthalmologic diagnosis.