Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature.
| Title: | Ophthalmic manifestations in Kabuki (make-up) syndrome: A single-center pediatric cohort and systematic review of the literature. |
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| Authors: | Merdler-Rabinowicz R; Pediatric Department A, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel.; Prat D; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Goldschleger Eye Institute, Sheba Medical Center, Tel Hashomer, Israel.; Pode-Shakked B; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Abel G; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Chorin O; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel.; Somech R; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; Pediatric Department A and Immunology Service, Jeffrey Modell Foundation Center, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel HaShomer, Israel.; Raas-Rothschild A; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel Hashomer, Israel. Electronic address: Annick.Rothschild@sheba.health.gov.il. |
| Source: | European journal of medical genetics [Eur J Med Genet] 2021 Jun; Vol. 64 (6), pp. 104210. Date of Electronic Publication: 2021 Mar 30. |
| Publication Type: | Case Reports; Journal Article; Systematic Review |
| Language: | English |
| Journal Info: | Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE |
| Imprint Name(s): | Original Publication: Amsterdam : Elsevier, c2005- |
| MeSH Terms: | Abnormalities, Multiple/*pathology ; Eye Abnormalities/*pathology ; Face/*abnormalities ; Hematologic Diseases/*pathology ; Vestibular Diseases/*pathology; Abnormalities, Multiple/genetics ; DNA-Binding Proteins/genetics ; Eye Abnormalities/genetics ; Face/pathology ; Hematologic Diseases/genetics ; Histone Demethylases/genetics ; Neoplasm Proteins/genetics ; Vestibular Diseases/genetics ; Adolescent ; Child ; Child, Preschool ; Humans ; Infant ; Visual Acuity |
| Abstract: | Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in several studies. We aimed to evaluate the prevalence and nature of ophthalmological findings in a cohort of KS patients in Israel. Medical records of all patients diagnosed with KS in our tertiary center between 2004 and 2020 were retrospectively reviewed. Data collected included physical examination findings, molecular analysis as well as comprehensive ophthalmic characteristics including visual acuity, ocular alignment and motility, ocular adnexa, anterior segments and dilated fundus exams. Finally, an updated systematic review of the literature was performed. Thirteen unrelated patients were included in the study, diagnosed at an age raging from the first months of life to 20 years. Of these, three (23%) showed significant ophthalmological abnormalities, beyond the characteristic structural findings of long palpebral fissures and lower eyelid eversion. These included bilateral posterior colobomata in the first patient; bilateral ptosis, hypermetropia, esotropia, blue sclera and anisocoria in the second; and bilateral congenital cataracts in the third. To conclude, our findings underscore the importance of a comprehensive ophthalmological evaluation as part of the routine multidisciplinary assessment of children suspected/diagnosed with KS.; (Copyright © 2021. Published by Elsevier Masson SAS.) |
| Contributed Indexing: | Keywords: Cataract; Coloboma; Kabuki syndrome; Ophthalmological findings |
| Substance Nomenclature: | 0 (DNA-Binding Proteins); 0 (KMT2D protein, human); 0 (Neoplasm Proteins); EC 1.14.11.- (Histone Demethylases); EC 1.14.11.- (KDM6A protein, human) |
| SCR Disease Name: | Kabuki syndrome |
| Entry Date(s): | Date Created: 20210401 Date Completed: 20210803 Latest Revision: 20210803 |
| Update Code: | 20260130 |
| DOI: | 10.1016/j.ejmg.2021.104210 |
| PMID: | 33794347 |
| Database: | MEDLINE |
Case Reports; Journal Article; Systematic Review