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Calcified Sclero-Choroidal Choristomas in Mosaic RASopathies
Journal article   Peer reviewed

Calcified Sclero-Choroidal Choristomas in Mosaic RASopathies

Brian M. Grodecki, Saipriya C. Potluri, Karl Olsen, Amgad Eldib, Hannah L. Scanga, Matthew S. Pihlblad and Ken K. Nischal
Ophthalmology retina, v 8(7), pp 710-722
Jul 2024
DOI: https://doi.org/10.1016/j.oret.2024.01.022
PMID: 38302056
Featured in Collection :   UN Sustainable Development Goals @ Drexel

Abstract

Children Choroidal choristoma Mosaic RASopathy Scleral choristoma Sclero-muscular calcification
To evaluate the imaging and clinical features of unusual calcified lesions seen in the fundus of patients with mosaic RASopathy. Single-center retrospective observational study. Ten eyes with calcified fundus lesions in 7 patients with mosaic RASopathy. The lesions were evaluated with fundus photography, oral fundus fluorescein angiography, B-scan ultrasonography, magnetic resonance imaging (MRI), and computed tomography (CT) scan where available. The imaging characteristics of calcified fundus lesions were assessed. We found 7 patients with mosaic RASopathies, 5 men and 2 women (3 with linear sebaceous nevus syndrome, 3 with oculoectodermal syndrome, and 1 with encephalocraniocutaneous lipomatosis) with molecular confirmation in 5 cases, all 5 having KRAS-pathogenic variants. Calcified fundus lesions were identified in 10 eyes (bilateral in 3 patients), appearing as slightly elevated, creamy-yellow lesions around or adjacent to the optic nerve, extending supero-nasally; all but 2 of these lesions involved both the choroid and sclera, with 2 of them only involving the sclera at the time of examination. One case developed a choroidal neovascular membrane necessitating intravitreal bevacizumab injections. All 7 patients had B-scan ultrasonography, and the lesion appeared as a hyperechogenic area with an acoustic shadow posteriorly despite reduced gain. Five patients had MRI, and where fundus lesions were present, there was a focal defect in the sclero-choroidal layer. Four patients had a CT scan, and all 4 showed calcifications affecting both the posteromedial sclero-choroid and adjacent medial rectus muscle. Two of these patients had normal eye movements, 1 had a unilateral fixed adducted eye and a vestigial fibrous medial rectus muscle seen in imaging and intraoperatively, and the fourth had marked exotropia with a right gaze deficit affecting both eyes. We propose that the lesions seen in this cohort are calcified sclero-choroidal choristomas and should be suspected in mosaic RASopathies when creamy-yellow lesions are seen in the fundus. If identified, the possibility of choroidal neovascularization should be considered during follow-up. In all cases where a CT scan was performed, a novel sign of sclero-muscular calcification involving the medial rectus muscle was seen. The author(s) have no proprietary or commercial interest in any materials discussed in this article.

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Collaboration types
Domestic collaboration
Web of Science research areas
Ophthalmology
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