Calcified Sclero-Choroidal Choristomas in Mosaic RASopathies: A Description of a New Imaging Sign.

Autor:	Grodecki BM; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania; University of Pittsburgh Medical Center, Children's Eye Center, Pittsburgh, Pennsylvania; Drexel University College of Medicine, Philadelphia, Pennsylvania., Potluri SC; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania; University of Pittsburgh Medical Center, Children's Eye Center, Pittsburgh, Pennsylvania; Lewis Katz School of Medicine at Temple University, Philadelphia, Pennsylvania., Olsen K; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania; Retina Vitreous Consultants, Pittsburgh, Pennsylvania., Eldib A; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania; University of Pittsburgh Medical Center, Children's Eye Center, Pittsburgh, Pennsylvania; University of Pittsburgh Medical Center, Vision Institute, Pittsburgh, Pennsylvania., Scanga HL; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania; University of Pittsburgh Medical Center, Children's Eye Center, Pittsburgh, Pennsylvania; University of Pittsburgh Medical Center, Vision Institute, Pittsburgh, Pennsylvania., Pihlblad MS; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania; University of Pittsburgh Medical Center, Children's Eye Center, Pittsburgh, Pennsylvania; University of Pittsburgh Medical Center, Vision Institute, Pittsburgh, Pennsylvania., Nischal KK; University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania; University of Pittsburgh Medical Center, Children's Eye Center, Pittsburgh, Pennsylvania; University of Pittsburgh Medical Center, Vision Institute, Pittsburgh, Pennsylvania. Electronic address: nischalkk@upmc.edu.
Jazyk:	angličtina
Zdroj:	Ophthalmology. Retina [Ophthalmol Retina] 2024 Jul; Vol. 8 (7), pp. 710-722. Date of Electronic Publication: 2024 Jan 30.
DOI:	10.1016/j.oret.2024.01.022
Abstrakt:	Purpose: To evaluate the imaging and clinical features of unusual calcified lesions seen in the fundus of patients with mosaic RASopathy. Design: Single-center retrospective observational study. Subjects: Ten eyes with calcified fundus lesions in 7 patients with mosaic RASopathy. Methods: 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. Main Outcome Measures: The imaging characteristics of calcified fundus lesions were assessed. Results: 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. Conclusions: 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. Financial Disclosure(s): The author(s) have no proprietary or commercial interest in any materials discussed in this article. (Copyright © 2024 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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