Retinal Astrocytic Hamartoma in Tuberous Sclerosis.

Sir,

A 14-year old male with multiple papules on his nose and cheeks [Figure 1, Panel a], hypopigmented macules on his back, and a thickened plaque of skin on his lumbo-sacral region with a clinical diagnosis of tuberous sclerosis was referred by his dermatologist for ophthalmic evaluation. The lesions were diagnosed as angiofibromas (adenoma sebaceum), ash leaf macules, and shagreen patch, respectively. There was no history of seizures, and imaging of the brain was normal. His vision was 20/20 in both the eyes. Fundoscopic examination revealed greyish yellow dome-shaped elevations on the retina of both the eyes [right eye, Figure 1, Panel b, arrow marks]. Spectral domain optical coherence tomography (SDOCT) image through these lesions was suggestive of tumor-like growth in the inner layers of the retina [Figure 2]. These lesions are known as astrocytic hamartomas. Pathologically, they arise from the innermost layer of the retina and are composed of nerve fibres and cells of glial origin. On follow-up examination after 1 year, the lesions were constant in appearance and the vision was unchanged.

Figure 1

(a) Multiple papules on the nose and cheeks suggestive of tuberous sclerosis. (b) The montage of color fundus photograph of the right eye shows greyish yellow dome-shaped elevations on the retina (black arrows) known as astrocytic hamartomas

Figure 2

SDOCT image through the astrocytoma in the right eye suggestive of tumor-like growth in the inner layers of the retina

Tuberous sclerosis complex is a multisystemic neurocutaneous condition with autosomal dominant inheritance, characterized by hamartomas that affect multiple organs, including skin, central nervous system, heart, lungs, kidneys, and eyes.[1] In 2012, the second International Tuberous Sclerosis Complex Consensus Conference held in Washington revised the prior existing criteria, the most significant being the incorporation of genetic testing[2](we could not do genetic testing in our case due to financial constrains). Retinal astrocytic hamartoma, one of the major criteria for the diagnosis of tuberous sclerosis complex,[2] occurs in approximately 50% of patients.[3] Bilateral multiple hamartomas becoming apparent during the infancy occurs in 30% of patients.[4] In the majority of patients, the lesions do not cause visual impairment (similar to our case).

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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.

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Conflicts of interest

There are no conflicts of interest.