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Optical coherence tomography of torpedo maculopathy in a patient with tuberous sclerosis
Author(s) -
Hansen Michael S.,
Larsen Michael,
Hove Marianne N.
Publication year - 2016
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/aos.12934
Subject(s) - tuberous sclerosis , medicine , lesion , fundus (uterus) , ophthalmology , retinal pigment epithelium , maculopathy , anatomy , retina , retinal , posterior pole , visual acuity , optical coherence tomography , pathology , retinopathy , optics , physics , diabetes mellitus , endocrinology
A 12‐year‐old boy was diagnosed with tuberous sclerosis (TSC) and had a new deletion (c.1220_1240del21) in exon 11 in the TSC2 gene (Rendtorff et al. 2005). He is, to the best of our knowledge, the first patient diagnosed with this mutation. In addition to having tuberous sclerosis, the boy was born with bilateral upper limb reduction defect or meromelia. He was treated for epileptic seizures in his early childhood. His best‐corrected visual acuity was 1.0/1.0. Ophthalmological examination revealed a single fundus lesion in the right eye and three in the left eye. Of the latter, two were ophthalmoscopically translucent and well‐circumscribed, located at the inferior rim of the optic disc and near the temporal superior vascular arcade, respectively. The lesion in the right eye had comparable characteristics. The third lesion in the left eye was located temporal of the macula and had a horizontally elongated shape and a pale, well‐defined appearance (Fig. 1A,B). On spectral domain optical coherence tomography (SD‐OCT), the two aforementioned lesions in the left eye and the one in the right eye were confined to the retinal nerve fibre layer and transparent, while casting a weak shadow on the underlying retinal pigment epithelium and displacing the middle layers of the retina. One of them had a small intratumoural cavity (Fig. 2, panel A and panel B). The lesion (Fig. 2, panel C) in the left eye temporal of macula was confined to the subretinal space temporal of the fovea. It consisted of a large hyporeflective cavity between a thin retinal pigment epithelium (RPE) layer and a grossly attenuated or hypoplastic overlying photoreceptor inner and outer segment layer. There was increased signal transmission from the choroid corresponding to the lesion. The fundus lesions have remained unchanged during five years of follow‐up.