Noonan Syndrome with Optic Disc Coloboma

Identifier	NOVEL_Noonan_Syndrome_with_Optic_Disc_Coloboma
Title	Noonan Syndrome with Optic Disc Coloboma
Creator	Fateme Montazeri; Niloofar Radgoudarzi; Yin A. Liu
Affiliation	(FM) University of California, Davis, Department of Ophthalmology; (NR) Eastern Virginia Medical School, Department of Ophthalmology; (YAL) University of California, Davis, Departments of Ophthalmology, Neurology, and Neurological Surgery
Subject	Noonan Syndrome; Optic Disc Coloboma; Optic Disc Excavation
Description	Our project focuses on Noonan syndrome and its ocular manifestations, specifically coloboma and optic disc excavation. Noonan syndrome is a genetic disorder with a wide range of clinical presentations, and eye-related abnormalities are among its common features. In this case, the ocular findings highlight the importance of thorough ophthalmic evaluation in patients with the syndrome. Given the potential for vision-related complications, early detection and coordinated multidisciplinary management is essential to optimize patient care and outcomes. This work underscores the critical role of eye examinations in the comprehensive assessment of individuals with Noonan syndrome.
Date	2025-08
References	Allanson, J. E., & Roberts, A. E. (2019). NS. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1124/. Allen MJ, Sharma S. Noonan Syndrome. [Updated 2023 Jan 9]. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK532269/. Lee, N., Kelly, L. & Sharland, M. Ocular manifestations of Noonan syndrome. Eye 6, 328-334 (1992). https://doi.org/10.1038/eye.1992.66. Van Trier, D. C., Vos, A. M. C., Draaijer, R. W., van der Burgt, I., Draaisma, J. M. T., & Cruysberg, J. R. M. (2016). Ocular Manifestations of NS: A Prospective Clinical and Genetic Study of 25 Patients. Ophthalmology, 123(10), 2137-2146. https://doi.org/10.1016/j.ophtha.2016.06.061. Van Trier DC, van der Burgt I, Draaijer RW, Cruysberg JRM, Noordam C, Draaisma JM. Ocular findings in Noonan syndrome: a retrospective cohort study of 105 patients. Eur J Pediatr. 2018 Aug;177(8):1293-1298. doi: 10.1007/s00431-018-3183-1. Epub 2018 Jun 9. PMID: 29948256; PMCID: PMC6061046. da Rocha Pitta Marin, L., Bezerra Gaspar Carvalho da Silva, F. T., Ferreira de Sá, L. C., Brasil, A. S., Pereira, A., Furquim, I. M., … Bertola, D. R. (2011). Ocular manifestations of Noonan syndrome. Ophthalmic Genetics, 33(1), 1-5. https://doi.org/10.3109/13816810.2011.593606. Amy E Roberts, Judith E Allanson, Marco Tartaglia, Bruce D Gelb, Noonan syndrome, The Lancet, Volume 381, Issue 9863, 2013, Pages 333-342, ISSN 0140-6736, https://doi.org/10.1016/S0140-6736(12)61023-X.
Language	eng
Format	application/pdf
Type	Text
Collection	Neuro-Ophthalmology Virtual Education Library: NOVEL https://NOVEL.utah.edu
Publisher	North American Neuro-Ophthalmology Society
Holding Institution	Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management	Copyright 2025. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK	ark:/87278/s65v5sts
Setname	ehsl_novel_yal
ID	2890478
Reference URL	https://collections.lib.utah.edu/ark:/87278/s65v5sts