Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy

Taylor, Stanford; Vasconcelos, Huber; Yang, Paul

doi:10.1016/j.ajoc.2018.12.009

Cited by 2 publications

(2 citation statements)

References 11 publications

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“…OCTA can rapidly and non-invasively detect both hyporeflective spaces and the intrinsic vascularization in astrocytic hamartoma. 6 This imaging modality helped confirm the diagnosis of astrocytic hamartoma, rather than optic disc drusen, in the setting of gyrate atrophy. Future studies with OCTA with larger sample sizes may provide insight into the true incidence of astrocytic hamartoma in gyrate atrophy.…”

Section: Discussionmentioning

confidence: 91%

Optical coherence tomography angiography of astrocytic hamartoma demonstrates intrinsic vascularity

Vogel

Liu

Singh

2020

American Journal of Ophthalmology Case Reports

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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.

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Section: Discussionmentioning

confidence: 91%

Optical coherence tomography angiography of astrocytic hamartoma demonstrates intrinsic vascularity

Vogel

Liu

Singh

2020

American Journal of Ophthalmology Case Reports

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“…Working in conjunction with TBC1D7, these genes play a crucial role in regulating the mTOR pathway, serving as tumor suppressor genes. Retinal astrocytic hamartomas are usually linked to TSC, but they can also be caused by neurofbromatosis, retinitis pigmentosa, Best's disease, and Leber's congenital amaurosis [15][16][17]. Differentiating them from similar conditions, such as retinoblastoma, persistent hyperplastic primary vitreous, or choroidal melanoma, can be challenging.…”

Section: Discussionmentioning

confidence: 99%

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

Thakkar,

Raveena,

Kumar

et al. 2024

Case Reports in Neurological Medicine

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Tuberous sclerosis (TS) is a rare multisystem autosomal dominant genetic disorder with characteristic pathognomonic genetic mutations involving the TSC (tuberous sclerosis complex) group of genes. Ocular signs are fairly common and include an achromic patch and retinal astrocytic hamartomas, which usually have a maximum size of between 0.5 and 5 mm. The incidence of tuberous sclerosis is estimated to be 1 in 5000−10,000 individuals, with both familial and sporadic cases reported. The diagnostic criteria for tuberous sclerosis include the presence of major and/or minor clinical features as well as genetic mutations. We present the case of a 15-year-old girl, presented with a history of seizures and blurred vision. Physical examination revealed angiofibroma on the face. Further evaluation, including contrast-enhanced MRI of the brain and ophthalmological consultation, led to the diagnosis of tuberous sclerosis. Additional imaging studies confirmed the presence of subependymal giant cell astrocytoma, retinal astrocytoma, lymphangioleiomyomatosis in the lungs, and renal angiomyolipoma. This case highlights the importance of considering tuberous sclerosis in patients presenting with seizures and ocular symptoms. This case sheds light on early diagnosis and appropriate management which are crucial in preventing complications and improving patient outcomes.

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Manifestation of a solitary retinal astrocytic hamartoma in a patient with Best macular dystrophy

Cited by 2 publications

References 11 publications

Optical coherence tomography angiography of astrocytic hamartoma demonstrates intrinsic vascularity

Optical coherence tomography angiography of astrocytic hamartoma demonstrates intrinsic vascularity

Giant Retinal Astrocytoma: A Case Report of an Uncommon Presentation of Tuberous Sclerosis in a Young Female

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