Retinal astrocytic hamartoma in a patient with Leber's congenital amaurosis.

To cite: Ambiya V, Kuppermann BD, Narayanan R. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014208374 DESCRIPTION Retinal astrocytic hamartomas are rare benign tumours that can arise from any location in the retina or from the optic nerve head. Multifocal and bilateral lesions are likely to be associated with tuberous sclerosis and neurofibromatosis 2 but are also often seen in eyes with retinitis pigmentosa. 4 The patient had a family history of seconddegree consanguinity in her parents. She had a visual acuity of perception of light in the right eye, counting fingers close to face in the left eye and an accurate projection of rays in both eyes. She had a bilateral nystagmus. The anterior segment of both eyes was normal. Fundus examination revealed bilateral astrocytic hamartomas of the optic nerve head, seen as mulberry-like yellowish-white nodules on the nerve head and along the peripapillary margins, well above the level of the nerve head and the retinal blood vessels (figure 1A, B). These nodules showed hyperautofluorescence with an even greater autofluorescence of their calcified centres (figure 1C, D). There was attenuation of retinal vasculature, generalised atrophy of the retinal pigment epithelium and bone-spicule-like pigment deposition in the general fundus. There were no systemic features of phakomatoses in our patient. Optic disc hamartomas may occasionally be confused with optic disc drusen. However, localisation of the calcification with autofluorescence confirms that drusen lie within the disc, whereas astrocytic hamartomas protrude above it and obscure the optic nerve and the retinal blood vessels. The characteristic imaging also rules out the differential diagnosis of papilloedema, optic disc haemangiomas, meningiomas and granulomas. We could not find any case of astrocytic hamartomas associated with Leber’s congenital amaurosis in the literature. The case reported here therefore happens to be an extremely rare occurrence.