Calcified Sclero-Choroidal Choristomas in Mosaic RASopathies: A Description of a New Imaging Sign.
Ophthalmol Retina
; 8(7): 710-722, 2024 Jul.
Article
en En
| MEDLINE
| ID: mdl-38302056
ABSTRACT
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 OUTCOMEMEASURES:
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.Palabras clave
Texto completo:
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Bases de datos:
MEDLINE
Asunto principal:
Calcinosis
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Imagen por Resonancia Magnética
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Angiografía con Fluoresceína
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Enfermedades de la Esclerótica
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Coristoma
Tipo de estudio:
Observational_studies
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Prognostic_studies
Límite:
Adolescent
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Adult
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Child
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Child, preschool
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Female
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Humans
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Male
Idioma:
En
Revista:
Ophthalmol Retina
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Ophthalmology retina (Online)
Año:
2024
Tipo del documento:
Article