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Year : 2022  |  Volume : 10  |  Issue : 2  |  Page : 75-77

Case of a diagnostic challenge: Retinal astrocytic hamartoma or retinoblastoma?

Department of Ophthalmology, Perth Children's Hospital, Nedlands, Western Australia, Australia

Date of Submission18-Sep-2021
Date of Decision13-Feb-2022
Date of Acceptance21-Feb-2022
Date of Web Publication18-Jul-2022

Correspondence Address:
Ankita Kothari
Perth Children's Hospital, Nedlands, Western Australia
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jcor.jcor_135_21

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Retinal manifestations of tuberous sclerosis (TS) include retinal astrocytomas and retinal granulomas. The retinal astrocytomas and retinal granulomas are benign tumors which clinically appear indistinguishable from retinoblastoma (Rb) lesions in their early stages. We report a case of TS with features of retinal hamartomas which closely resemble Rb lesions. We emphasize the important role of ocular coherence tomography in combination with frequent examinations under anesthesia to differentiate the two entities. TS and Rb can present as the most dangerous combination, and it's best not to assume a malignant condition as a benign one at the cost of a child's life.

Keywords: Retinal astrocytoma, retinoblastoma, tuberous sclerosis

How to cite this article:
Kothari A, Lam G. Case of a diagnostic challenge: Retinal astrocytic hamartoma or retinoblastoma?. J Clin Ophthalmol Res 2022;10:75-7

How to cite this URL:
Kothari A, Lam G. Case of a diagnostic challenge: Retinal astrocytic hamartoma or retinoblastoma?. J Clin Ophthalmol Res [serial online] 2022 [cited 2023 Mar 25];10:75-7. Available from: https://www.jcor.in/text.asp?2022/10/2/75/351290

Retinal manifestations of tuberous sclerosis (TS) include retinal astrocytomas and retinal granulomas. The retinal astrocytomas and retinal granulomas were seen in TS are benign tumors. Retinoblastoma (Rb) is a rare form of malignant intraocular tumor. It develops from the immature cells of the retina, usually in young children. We present a diagnostic challenging case of multiple intraocular lesions in a case with a family history of TS, but the appearance of the lesions resembles that of Rb.

  Case Report Top

A 6-month-old baby boy was referred for an ophthalmology workup of TS as he had an episode of a new-onset seizure, with the background of family history of TS.

Magnetic resonance imaging of the brain showed multiple subependymal nodules, cortical/juxtacortical tubers, and radial bands consistent with TS. Fundus examination showed multiple pale, well-defined elevated retinal lesions. There was no evidence of calcifications within the lesions [Figure 1]. Fundus photographs were taken with the RetCam 3® (Natus Medical Incorporated®, California, USA).
Figure 1: Clinical appearance of retinal astrocytic hamartomas in tuberous sclerosis for the Right eye and Left eye

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Ocular coherence tomography (OCT) scans were acquired with a portable OCT machine (Bioptigen®, Leica Microsystems®, Wetzlar, Germany). The scans showed the lesions were homogenous and arising from and involving the inner retinal layers [Figure 2]. Given the marked resemblance of the lesions with Rb, it was decided to monitor the child closely with monthly clinic review, intermixed with 3 monthly EUAs for any suspicious changes.
Figure 2:(a) Ocular coherence tomography image of a retinal astrocytoma lesion appearing homogenous and arising from inner retinal layers, (b) showing the corresponding location through which the OCT image in figure 2 a has been obtained

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  Discussion Top

Rb is the most common childhood ocular malignancy. If diagnosed early and managed accordingly, the survival rate is better than 90%.[1] On the other hand, TS is a benign condition. It is important to not misdiagnose a potentially malignant condition as a benign one.

In most cases of TS, the morphological appearance of the retinal lesions is usually diagnostic. Flat translucent retinal hamartomas are the most common lesion found in 70% of patients with TS, followed by the multinodular mulberry lesion which was seen in 55%.[2] With time, these translucent tumors may develop into larger multinodular lesions that have undergone cystic, hyaline, or calcific changes.[3] The lesions can be stationary or may increase in numbers, size, and appearance over time. Although very rare, vitreous seeding has been reported in TS,[4],[5] making it even more difficult to distinguish between the two.

The typical OCT features of retinal hamartoma in the translucent type of lesions are dome-shaped hyperreflective masses lying within or above the retinal nerve fiber layer, 69.6% limited to the inner retina.[6] The transition from normal retina to tumor is gradual in 77.8% of patients.[7] Similar features have been observed on OCT in our patients [Figure 2]. On the other hand, Shields et al. noted the presence of Rb mass more frequently in the outer retinal layers, elevating the normal-appearing inner retinal layers inward, a feature they termed as “retinal draping.”[8] This feature is apparently more commonly seen in smaller Rb. OCT is also a useful tool to distinguish these features.

Our patient has features consistent with TS. However, Rb needs to be excluded as the morphology of the lesions is difficult to distinguish from Rb [Figure 3]. There are very few reports in the literature to date where Rb has been misdiagnosed as TS based on the presence of systemic features as demonstrated by Zhang et al.[9] and McCaffery et al.[6] In the first report, genetic testing confirmed the diagnosis of Rb, whereas in the second case, there was atypical Rb diagnosed on pathological examination after enucleation. Our patient returned a negative Rb1 gene deletion on genetic testing but showed a mutation in the TSC2 gene which confirms TS. However, a negative Rb1 gene does not exclude the possibility of the presence of Rb. Hence, we followed up this child in accordance with high-risk screening guidelines laid by the American Academy of Ophthalmology (AAO)[10] with monthly examinations for the 1st year and 2 monthly for the following year which we have achieved and thereafter plan future follow-up frequency changes as recommended by AAO. Although the definition of high risk according to the article is on the basis of genetic analysis, we consider our child to be at high risk considering the resemblance of the clinical lesion to Rb.
Figure 3: Clinical appearance of retinoblastoma lesion in the early stage closely resembling astrocytic hamartoma

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In another instance, Chawla et al. reported a case in which a clinical diagnosis of Rb was made, and the eye was enucleated. Histopathology of the enucleated eye did not showed malignancy but only features consistent with retinal astrocytoma (TS).[11]

  Conclusion Top

It can be a diagnostic challenge differentiating retinal astrocytic hamartomas from Rb tumors. OCT proved an essential tool that allows for early detection and differentiation of the two. Nevertheless, as seen in literature, there can be coexistent TS with Rb; hence frequent follow-up visits should continue despite a clinical diagnostic confirmation.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient (s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initial s will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

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Conflicts of interest

There are no conflicts of interest.

  References Top

Broaddus E, Topham A, Singh AD. Survival with retinoblastoma in the USA: 1975-2004. Br J Ophthalmol 2009;93:24-7.  Back to cited text no. 1
Rowley SA, O'Callaghan FJ, Osborne JP. Ophthalmic manifestations of tuberous sclerosis: A population based study. Br J Ophthalmol 2001;85:420-3.  Back to cited text no. 2
Mclean JM. Glial tumors of the retina in relation to tuberous sclerosis. Trans Am Ophthalmol Soc 1955;53:209-15.  Back to cited text no. 3
Van der Hoeve J. Eye symptoms in tuberose sclerosis of the brain. Trans Ophthalmol Soc U K 1920;40:329-34.  Back to cited text no. 4
de Juan E Jr., Green WR, Gupta PK, Barañano EC. Vitreous seeding by retinal astrocytic hamartoma in a patient with tuberous sclerosis. Retina 1984;4:100-2.  Back to cited text no. 5
McCaffery S, Wieland MR, O'Brien JM, Cooper KL, Wieland MR, Wendel RT. Atypical retinoblastoma presentations: A challenge for the treating ophthalmologist. Arch Ophthalmol 2002;120:1222-5.  Back to cited text no. 6
Zhang C, Xu K, Long Q, Yang Z, Dai R, Du H, et al. Clinical features and optical coherence tomography findings of retinal astrocytic hamartomas in Chinese patients with tuberous sclerosis complex. Graefes Arch Clin Exp Ophthalmol 2020;258:887-92.  Back to cited text no. 7
Shields CL, Manalac J, Das C, Saktanasate J, Shields JA. Review of spectral domain-enhanced depth imaging optical coherence tomography of tumors of the retina and retinal pigment epithelium in children and adults. Indian J Ophthalmol 2015;63:128-32.  Back to cited text no. 8
[PUBMED]  [Full text]  
Zhang C, Feng ZX, Li L, Solarte CE, Ma X. Retinoblastoma in a child with tuberous sclerosis complex: A case report. Can J Ophthalmol 2020;55:e199-201.  Back to cited text no. 9
Skalet AH, Gombos DS, Gallie BL, Kim JW, Shields CL, Marr BP, et al. Screening Children at Risk for Retinoblastoma: Consensus Report from the American Association of Ophthalmic Oncologists and Pathologists. Ophthalmology 2018;125:453-8. [doi: 10.1016/j.ophtha. 2017.09.001].  Back to cited text no. 10
Chawla B, Khurana S, Sen S, Sharma S. Clinical misdiagnosis of retinoblastoma in Indian children. Br J Ophthalmol 2014;98:488-93.  Back to cited text no. 11


  [Figure 1], [Figure 2], [Figure 3]


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