Isolated retinal astrocytic hamartoma

Bennett, Loren W.

doi:10.1111/cxo.12956

Cited by 5 publications

(4 citation statements)

References 8 publications

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“…RAHs may be associated with systemic phakomatose syndromes like neurofibromatosis and tuberous sclerosis. They are the most common ocular finding of tuberous sclerosis [ 2 ]. Phakomatose-related RAHs tend to be bilateral, multiple, and they have a more aggressive tumor growth with an increased risk of complications [ 4 ].…”

Section: Discussionmentioning

confidence: 99%

“…In recent years, optical coherence tomography (OCT) technology proved that RAH is confined to the retinal nerve fiber layer (RNFL), and the outer retinal segments are anatomically normal. There may be intratumoral empty spaces, posterior shadowing, and vitreoretinal traction [ 2 ]. In an observational study from Welch et al [ 7 ], 16 eyes with retinoblastoma were evaluated with OCT after a session of chemotherapy.…”

Section: Discussionmentioning

confidence: 99%

“…The fundoscopic finding is usually a well-demarcated, multilobulated, whitish-yellow lesion that can be located in the posterior pole or peripheral retina. Sporadic cases tend to be unilateral and solitary [ 2 ]. Retinoblastoma (RB) is the most common intraocular malignancy in children.…”

Section: Introductionmentioning

confidence: 99%

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Multimodal imaging of a sporadic retinal astrocytic hamartoma simulating retinoblastoma in a newborn

Oto

Çebi

Kılıçarslan

et al. 2022

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Introduction: To report a sporadic astrocytic hamartoma simulating retinoblastoma in a newborn. Methods: Clinical data was reviewed retrospectively. Results: A 3-month-old baby with a history of perinatal asphyxia was referred to our ocular oncology clinic with suspected retinoblastoma in the left eye. Dilated fundoscopy revealed a solitary tumor covering the optic disc at the left eye. The whitish-yellow lesion was well-defined, opaque, and minimally calcified. High internal reflectivity and posterior shadowing due to the intralesional calcification, and intratumoral cystic spaces were observed in B-scan ultrasound imaging. Optical coherence tomography imaging showed an intraretinal tumor with cystic spaces and posterior shadowing. The tumor was diagnosed as an astrocytic hamartoma. The systemic evaluation was negative for phacomatoses. The lesion has been observed with multimodal imaging for six years without significant changes. Conclusions: Retinal astrocytic hamartomas are benign tumors that arise within the retinal nerve fiber layer. Differential diagnosis constitutes high importance since they may be misdiagnosed as retinoblastoma, and therefore may be overtreated. Whereas retinoblastoma requires immediate treatment, retinal astrocytic hamartomas are commonly followed-up. Multimodal imaging with B-scan ultrasonography and optical coherence tomography are useful in distinguishing those two entities.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

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Multimodal imaging of a sporadic retinal astrocytic hamartoma simulating retinoblastoma in a newborn

Oto

Çebi

Kılıçarslan

et al. 2022

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“…Sistemik hastalıklarla ilişkili lezyonlar multifokal ve bilateral özellik gösterebilirken; izole olanlar tek ve unilateral olma eğilimindedir (Şekil 3). 43 Sinir lifi tabakası astrositlerinin hamartomları, optik diskten perifer retinaya kadar herhangi bir yerde görülebilir. 42 Izole retinal hamartom sıklıkla tek taraflıdır ve optik disk komşuluğunda, arka kutupta yerleşme eğilimindedir.…”

Section: İzole Retinal Hamartomunclassified

Retinal Tumors Associated with Phacomatoses and Isolated Retinal Hamartoma

KÖKSALDI,

KAYABAŞI,

SAATCİ

2023

CRJ

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The phacomatoses or neurocutaneous syndromes are a heterogeneous group of genetic disorders arising from the embryonic ectoderm, characterized by multiple congenital anomalies affecting the eye, skin, and central nervous system. Two of the most common phacomatoses are neurofibromatosis and tuberous sclerosis, and retinal manifestations may be seen in both these entities. Retinal astrocytic hamartomas are benign glial tumors that originate from astrocytes in the retinal nerve fiber layer. While they are classically associated with systemic phacomatoses such as tuberous sclerosis complex and neurofibromatosis, these lesions can also present as incidental findings in otherwise healthy individuals. It should be kept in mind that retinal involvement may accompany phacomatoses and detailed ophthalmological evaluation should be performed in these patients.

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