Optical Coherence Tomography of Retinal Astrocytic Hamartoma in 15 Cases

doi:10.1016/j.ophtha.2006.03.032

Ophthalmology

Volume 113, Issue 9, September 2006, Pages 1553-1557

https://doi.org/10.1016/j.ophtha.2006.03.032 Get rights and content

Objective

To describe the features of retinal astrocytic hamartoma using optical coherence tomography (OCT).

Design

Retrospective, observational, noncomparative case series.

Participants

Fifteen consecutive eyes from 14 patients with retinal astrocytic hamartoma.

Main Outcome Measures

Optical coherence tomography characteristics of the tumor.

Results

The mean patient age at OCT was 33 years, and tuberous sclerosis was present in 3 patients (21%). By ophthalmoscopy, the mean basal diameter of the tumor was 3.6 mm. By OCT, the tumor showed hyperreflectivity at its surface, internal retinal disorganization, and a gradual gently sloping transition from a normal retina into a tumorous retina in all 15 cases (100%). By OCT, the retinal disorganization was limited to the inner retina in 3 (20%), outer retina in 0 (0%), full retina in 5 (33%), and inner retina with no view of deeper layers due to shadowing in 7 (47%). On OCT, there was mild retinal traction on the surface of the tumor in 4 (27%), discrete internal moth-eaten optically empty spaces representing intralesional calcification or intratumoral cavities in 10 (67%), and optical shadowing posterior to the tumor in 14 (93%). Other retinal findings on OCT included shallow elevation of the adjacent retina in 2 (13%), adjacent retinal edema in 4 (27%), and macular edema in 3 (20%).

Conclusions

Retinal astrocytic hamartoma shows characteristic features on OCT, including a gradual transition from a normal retina into an optically hyperreflective mass with retinal disorganization, characteristic moth-eaten spaces, and posterior shadowing.

Section snippets

Patients and Methods

The clinical records of 15 eyes from 14 consecutive patients with the diagnosis of retinal astrocytic hamartoma who were imaged with OCT (Zeiss StratusOCT model 3000, Carl Zeiss Ophthalmic Systems, Dublin, CA) on the Ocular Oncology Service at Wills Eye Hospital, Philadelphia between January 1, 2004 and July 1, 2005 were reviewed. Institutional review board approval was obtained for this retrospective study. Data were gathered regarding clinical and OCT features of the tumor. The 6–radial line

Results

There were 15 eyes in 14 patients with retinal astrocytic hamartoma imaged with OCT (Fig 1). The patient and tumor findings are listed in Table 1. The mean patient age at OCT was 33 years (median, 21; range, 8–85). There were 6 males (43%) and 8 females (57%); 13 were white (93%) and 1 black (7%). Three patients (21%) had tuberous sclerosis.

Visual acuities were 20/20 to 20/50 in 12 eyes (80%), 20/60 to 20/100 in 2 (13%), and 20/200 or worse in 1 (7%). The tumor was located in the macula (≤3 mm

Discussion

Optical coherence tomography demonstrated features of retinal astrocytic hamartoma that were often suspected but not proven based on prior studies with ophthalmoscopy, fluorescein angiography, and ultrasonography. Retinal astrocytic hamartoma showed features on OCT suggesting an inner retina or full-thickness retinal disorder with gradual transition from a normal retina into a tumorous retina. In 3 cases (20%), only the inner retina was involved, whereas in 5 cases (33%), full-thickness retinal

References (17)

C.L. Shields et al.
Progressive enlargement of acquired retinal astrocytoma in 2 cases
Ophthalmology
(2004)
J.A. Shields et al.
Atypical retinal astrocytic hamartoma diagnosed by fine-needle biopsy
Ophthalmology
(1996)
G. Espinoza et al.
Optical coherence tomography in the evaluation of retinal changes associated with suspicious choroidal melanocytic tumors
Am J Ophthalmol
(2004)
J.F. Arevalo et al.
Optical coherence tomography characteristics of choroidal metastasis
Ophthalmology
(2005)
C.L. Shields et al.
Photoreceptor loss overlying congenital hypertrophy of the retinal pigment epithelium by optical coherence tomography
Ophthalmology
(2006)
C.L. Shields et al.
Congenital simple hamartoma of the retinal pigment epithelium. A study of five cases
Ophthalmology
(2003)
J.A. Shields et al.
J.A. Shields et al.

There are more references available in the full text version of this article.

Cited by (91)

An atypical presentation of retinal astrocytic hamartoma with co-occurring SEGA in a tuberous sclerosis patient
2024, Radiology Case Reports
Tuberous sclerosis complex (TSC) is a genetic disorder that causes noncancerous growths and tumors in various body systems. This case report discusses an unusual eye condition called retinal astrocytic hamartoma (RAH) in a TSC patient, along with a brain tumor called subependymal giant cell astrocytoma (SEGA). These conditions, linked to TSC gene mutations, can be atypical in size and cause complications like vitreous hemorrhage. Surgical treatment is generally effective. Recognizing similarities between SEGA and RAH can help with early detection and comprehensive care for TSC patients.
Retinal astrocytic hamartoma complicated by branch retinal vein occlusion in a patient with tuberous sclerosis complex
2023, American Journal of Ophthalmology Case Reports
To report a case with branch retinal vein occlusion secondary to a retinal astrocytic hamartoma in a patient with tuberous sclerosis complex.
A fourteen-year-old boy, a known case of tuberous sclerosis complex, with multiple bilateral retinal astrocytic hamartomas was followed by 6 months intervals. In his last follow-up, 6 months after initial presentation, the patient developed angiographic signs of branch retinal vein occlusion (BRVO) in the superotemporal arcade of the right eye distal to one of the retinal astrocytic hamartomas. He underwent targeted retinal laser photocoagulation. No secondary complication related to BRVO was observed during the next six-month follow-up.
And Importance: Although the co-occurrence of branch retinal vein occlusion and astrocytic hamartoma may represent an incidental finding, awareness of BRVO as a possible complication associated with retinal astrocytic hamartoma helps timely diagnosis and prompt treatment of this complication, improving the visual prognosis of these patients.
Benign Lobular Inner Nuclear Layer Proliferations of the Retina Associated with Congenital Hypertrophy of the Retinal Pigment Epithelium
2023, Ophthalmology
Citation Excerpt :
Furthermore, the OCT features of other known intraretinal tumors have been well described.1 For example, retinal astrocytic hamartoma has been shown to arise within the nerve fiber layer and to contain optically empty spaces.2,8 The OCT features of the current patients are unique among previously described entities, and no OCT features specific to any other benign retinal tumors were identified.
To report the clinical and imaging findings of 4 patients with benign intraretinal tumors, 2 of which were associated with retinal pigment epithelium (RPE) hypertrophy. To our knowledge, this condition has not been described previously and should be distinguished from retinoblastoma and other malignant retinal neoplasms.
Retrospective case series.
Four patients from 3 institutions.
Four patients with intraretinal tumors of the inner nuclear layer (INL) underwent a combination of ophthalmic examination, fundus photography, fluorescein angiography, OCT, OCT angiography, and whole exome sequencing.
Description of multimodal imaging findings and systemic findings from 4 patients with benign intraretinal tumors and whole exome studies from 3 patients.
Six eyes of 4 patients 5, 13, 32, and 27 years of age were found to have white intraretinal tumors that remained stable over the follow-up period (range, 9 months–4 years). The tumors were unilateral in 2 patients and bilateral in 2 patients. The tumors were white, centered on the posterior pole, and multifocal, with some consisting of multiple lobules with arching extensions that extended beyond the central tumor mass. OCT demonstrated these lesions to be centered within the INL at the border of the inner plexiform layer. In addition, 2 patients demonstrated congenital hypertrophy of the RPE (CHRPE) lesions. Three of 4 patients underwent whole exome sequencing of the blood that revealed no candidate variants that plausibly could account for the phenotype.
We characterize a novel benign tumor of the INL that, in 2 patients, was associated with separate CHRPE lesions. We propose the term benign lobular inner nuclear layer proliferation to describe these lesions.
Proprietary or commercial disclosure may be found after the references.
Rapid symptomatic and structural improvement of a retinal astrocytic hamartoma in response to anti-VEGF therapy: A case report
2022, American Journal of Ophthalmology Case Reports
To describe a patient with bilateral peripapillary astrocytic hamartomas with exudation of subretinal fluid into the macula and loss of vision without evidence of choroidal neovascularization. The patient rapidly responded to intravitreal bevacizumab injections resulting in reduced subretinal fluid and clinical improvement.
A 70-year-old female presented with worsening vision in her left eye due to subretinal fluid exudation from a peripapillary astrocytic hamartoma. The patient was treated with two doses of bevacizumab with rapid improvement in vision and resolution of subretinal fluid. Genetic testing was negative for common pathogenic variants for tuberous sclerosis and neurofibromatosis, which are highly associated with bilateral optic nerve and retinal astrocytic hamartomas.
Astrocytic hamartomas with exudation may be responsive to bevacizumab suggesting a dependence of these lesions on vascular endothelial growth factor (VEGF) independent of secondary choroidal neovascularization. Furthermore, this case describes a patient with bilateral astrocytic hamartomas without genetic or clinical confirmation of associated phakomatoses, such as tuberous sclerosis and neurofibromatosis.
Multimodal imaging of a unilateral large retinoma
2022, Journal Francais d'Ophtalmologie
Tuberous sclerosis: Diagnosis on ocular fundus examination
2021, Journal Francais d'Ophtalmologie

View all citing articles on Scopus

Manuscript no. 2005-1055.

Support provided by the LuEsther Mertz Retinal Research Foundation, New York, New York (JAS, CLS); the Paul Kayser International Award of Merit in Retina Research, Houston, Texas (JAS); Michael, Bruce, and Ellen Ratner, New York, New York (JAS, CLS); Mellon Charitable Giving from the Martha W. Rogers Charitable Trust (CLS); and the Eye Tumor Research Foundation, Philadelphia, Pennsylvania (CLS, JAS).

View full text

Original ArticleOptical Coherence Tomography of Retinal Astrocytic Hamartoma in 15 Cases

Objective

Design

Participants

Main Outcome Measures

Results

Conclusions

Section snippets

Patients and Methods

Results

Discussion

Ophthalmology

Ophthalmology

Am J Ophthalmol

Ophthalmology

Ophthalmology

Ophthalmology

Original Article
Optical Coherence Tomography of Retinal Astrocytic Hamartoma in 15 Cases