An unusual ophthalmologic finding in a patient with congenital central hypoventilation syndrome.
Victor Aguado CasanovaDiana Pérez-GarcíaMarta Orejudo-RivasPatricia Ramiro-MillánJuan Ibañez-AlperteCristina Calvo-SimonLeon RemónPublished in: European journal of ophthalmology (2024)
Ophthalmologic abnormalities are common in patients with CCHS and include horizontal strabismus, pupil and iris abnormalities and ptosis. To the best of our knowledge, this is the first report of MED in association with CCHS. Further studies are needed to determine if an association between MED and CCHS exists or is just a casual finding in this case.