1. Changes in ocular motility in Kabuki syndrome.
- Author
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Del Cerro I, Merino P, Gómez de Liaño P, and Alan G
- Subjects
- Abnormalities, Multiple genetics, Astigmatism genetics, Blepharoptosis genetics, Child, Child, Preschool, DNA-Binding Proteins genetics, Face physiopathology, Female, Frameshift Mutation, Hematologic Diseases genetics, Humans, Hyperopia genetics, Male, Neoplasm Proteins genetics, Strabismus genetics, Strabismus surgery, Vestibular Diseases genetics, Abnormalities, Multiple physiopathology, Face abnormalities, Hematologic Diseases physiopathology, Ocular Motility Disorders genetics, Vestibular Diseases physiopathology
- Abstract
Kabuki syndrome is a rare genetic disorder, caused by mutation in the KMT2D or KDM6A genes, which affects several organs in the majority of patients, among which are the eyes. The most typical clinical characteristics are mental retardation, postnatal growth retardation, skeletal anomalies, and characteristic facial features. As the eyes are affected in most of the cases, ophthalmological examination is recommended for the early detection of ocular anomalies, in order to prevent visual impairment. The most frequent ocular signs are strabismus, ptosis, and refractive anomalies. A series of cases of Kabuki syndrome is described in five children, four of whom exhibited strabismus with esotropia, over action of inferior oblique muscles, and under action of superior oblique muscles associated with a V pattern. Most published papers do not report or might underestimate the ocular problems. It may be appropriate to perform orbital magnetic resonances in order to detect changes in the muscle paths that are related to the pathology of the eye movements found., (Copyright © 2019. Publicado por Elsevier España, S.L.U.)
- Published
- 2020
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