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PHOTO ESSAY
Year : 2020  |  Volume : 68  |  Issue : 11  |  Page : 2504-2507

Retinal astrocytic hamartoma and systemic spectrum of disease in successive generations with tuberous sclerosis complex


Department of Ophthalmology, All India Institute of Medical Sciences (AIIMS), Rishikesh, Uttarakhand, India

Date of Submission08-Apr-2020
Date of Acceptance31-Jul-2020
Date of Web Publication26-Oct-2020

Correspondence Address:
Dr. Ramanuj Samanta
Department of Ophthalmology, All India Institute of Medical Sciences (AIIMS), Rishikesh - 249 203, Uttarakhand
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/ijo.IJO_891_20

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  Abstract 


Keywords: Adenoma sebaceum, ash leaf macule, cortical tuber, retinal astrocytic hamartoma, tuberous sclerosis


How to cite this article:
Sood G, Samanta R, Pandurangan S, Sharma P, Singh A, Agrawal A. Retinal astrocytic hamartoma and systemic spectrum of disease in successive generations with tuberous sclerosis complex. Indian J Ophthalmol 2020;68:2504-7

How to cite this URL:
Sood G, Samanta R, Pandurangan S, Sharma P, Singh A, Agrawal A. Retinal astrocytic hamartoma and systemic spectrum of disease in successive generations with tuberous sclerosis complex. Indian J Ophthalmol [serial online] 2020 [cited 2020 Nov 28];68:2504-7. Available from: https://www.ijo.in/text.asp?2020/68/11/2504/299116



A 26-year-old female presented with recent burning micturition and few skin lesions since teenage. Dermatological evaluation revealed adenoma sebaceum [Figure 1]a and ash leaf spots [Figure 1]b and [Figure 1]c over trunk and abdomen. Her best-corrected visual acuity was 20/20 in both eyes. Dilated fundus showed multiple flat translucent whitish-patches along the supero-temporal arcade of right eye suggestive of retinal astrocytic hamartoma (RAH; [Figure 1]d). Corresponding Optical coherence tomography over these lesions showed hyperreflectivity of inner retinal layer [Figure 1]e. Magnetic resonance imaging (MRI) of brain [Figure 1]f, [Figure 1]g, [Figure 1]h, [Figure 1]i revealed multiple cortical tubers in bilateral frontoparietal lobes. Contrast-enhanced computed tomography scan (CECT) revealed multiple renal angiomyolipoma [Figure 1]j and cysts in kidney, ovary and liver [Figure 1]k. Round to oval sclerotic lesions were also noted in spine, sacrum, and iliac bones [Figure 1]l.
Figure 1: Clinical photograph (a-c) showing adenoma sebaceum (a) and ash-leaf macules (b and c). Fundus picture (d) showing multiple retinal astrocytic hamartomas (RAH) in right eye; OCT (e) showing hyperreflectivity of inner retinal layers. MRI brain (f-i) revealed cortical tubers in bilateral frontoparietal lobes. CECT abdomen (j and k) revealed enlarged kidneys, renal angiomyolipoma (j), and multiple cysts in kidney, ovary, and liver (k). Sclerotic bone lesion in spine (l) were also noted

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Retrospective history revealed similar dermatological lesions in father and daughter of the affected female. Although her father was unavailable for investigation, 4-year-old daughter was evaluated for subnormal intelligence. Examination of daughter also revealed adenoma sebaceum and ash leaf spots [Figure 2]a and [Figure 2]b, bilateral RAH [Figure 2]c and [Figure 2]d, multiple cortical tubers [Figure 2]e, [Figure 2]f, [Figure 2]g, [Figure 2]h, subependymal nodules [Figure 2]i, [Figure 2]j, [Figure 2]k, [Figure 2]l and renal abnormalities [Figure 2]m and [Figure 2]n. A definitive diagnosis of tuberous sclerosis complex (TSC) was made in both mother and daughter.[1] They were advised 6 monthly ocular follow-up and referred to general physician for systemic manifestations.
Figure 2: Clinical photograph (a and b) showing adenoma sebaceum (a) and ash-leaf macules (b). Fundus picture (c and d) of both eyes showing retinal astrocytic hamartomas (RAH). MRI brain revealed cortical tubers (e-h) and subependymal nodules (i-l). CECT showing dilated pelvicalyceal system (m) and multiple subcentimetric cysts in bilateral renal parenchyma (n)

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  Discussion Top


TSC is a rare phakomatosis characterized by multiple systemic hamartomas. It is inherited as autosomal dominant disorder with high penetrance and variable phenotypic expression.[2] RAH are primary ophthalmic features of TSC.[3] RAH are noted as subtle greying of retina and are often missed unless carefully searched. It can manifest morphologically as (a) translucent flat tumors, (b) whitish nodular (mulberry lesion) mass or (c) Mixed variety.[4] Dilated fundus evaluation is a simple and cost-effective way to clinically diagnose such disorders before other invasive investigations are undertaken to confirm TSC.

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 initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.



 
  References Top

1.
Northrup H, Krueger DA, Roberds S, Smith K, Sampson J, Korf B, et al. Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013;49:243-54.  Back to cited text no. 1
    
2.
Schwartz RA, Fernandez G, Kotulska K, Jozwiak S. Tuberous sclerosis complex: Advances in diagnosis, genetics, and management. J Am Acad Dermatol 2007;57:189-202.  Back to cited text no. 2
    
3.
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. 3
    
4.
Kandt RS. Tuberous sclerosis complex and neurofibromatosis type 1: The two most common neurocutaneous diseases. Neurol Clin 2002;20:941-64.  Back to cited text no. 4
    


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  [Figure 1], [Figure 2]



 

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