Cornea · 2025
Complex Epibulbar and Corneal Choristomas in Mosaic RASopathies.
СтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Potluri Saipriya, Grodecki Brian, Scanga Hannah, Tripi Kelly Schooping, Hagan Richard, Nischal Ken K
Аннотация
PURPOSE: To describe the clinical features and management of ocular choristomas in mosaic RASopathy patients.
METHODS: We performed a retrospective single-center case review of all mosaic RASopathy patients. We evaluated for the presence of corneal and epibulbar choristomas and conducted a comprehensive analysis of the imaging, including operative microscope images, slitlamp images, and optical coherence tomography images. In doing so, we provide a precise description for these types of choristomas.
RESULTS: Nine patients with mosaic RASopathies, 7 men and 2 women (3 with clinical diagnoses of Linear Sebaceous Nevus Syndrome, 5 with Oculoectodermal Syndrome, and 1 with Encephalocraniocutaneous Lipomatosis), were evaluated. Fourteen eyes with ocular choristomas were identified among the 9 patients-bilaterally in 5 and unilaterally in 4. Molecular confirmation was available in 6 cases, and pathogenic variants in the KRAS gene were identified in all 6. None of the choristomas presented as discrete raised lesions at the limbus alone; they were all relatively flat, very vascularized, and in 4 of the 14 eyes, there was involvement of the visual axis, with 6 having extension with vascularization onto the cornea. All of them extended into the conjunctiva and into the sclera posteriorly.
CONCLUSIONS: Ocular choristomas with conjunctival and scleral extension, often with concomitant corneal vessels, should alert the clinician to the possibility of a mosaic RASopathy. Management can be complicated and includes measures such as optical iridectomy, anti-VEGF injections, and refractive correction with occlusion therapy, and corneal transplantation may also be considered.
METHODS: We performed a retrospective single-center case review of all mosaic RASopathy patients. We evaluated for the presence of corneal and epibulbar choristomas and conducted a comprehensive analysis of the imaging, including operative microscope images, slitlamp images, and optical coherence tomography images. In doing so, we provide a precise description for these types of choristomas.
RESULTS: Nine patients with mosaic RASopathies, 7 men and 2 women (3 with clinical diagnoses of Linear Sebaceous Nevus Syndrome, 5 with Oculoectodermal Syndrome, and 1 with Encephalocraniocutaneous Lipomatosis), were evaluated. Fourteen eyes with ocular choristomas were identified among the 9 patients-bilaterally in 5 and unilaterally in 4. Molecular confirmation was available in 6 cases, and pathogenic variants in the KRAS gene were identified in all 6. None of the choristomas presented as discrete raised lesions at the limbus alone; they were all relatively flat, very vascularized, and in 4 of the 14 eyes, there was involvement of the visual axis, with 6 having extension with vascularization onto the cornea. All of them extended into the conjunctiva and into the sclera posteriorly.
CONCLUSIONS: Ocular choristomas with conjunctival and scleral extension, often with concomitant corneal vessels, should alert the clinician to the possibility of a mosaic RASopathy. Management can be complicated and includes measures such as optical iridectomy, anti-VEGF injections, and refractive correction with occlusion therapy, and corneal transplantation may also be considered.