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Journals / Glokom Katarakt / 2017 / Cilt: 12 - Sayı: 3

OcularFindings in Noonan Syndrome: Two Cases and Review of the Literature

Noonan Sendromunda Göz Bulguları: İki Olgu ve Literatürün Gözden Geçirilmesi

HANDE TAYLAN ŞEKEROĞLU
KADRİYE ERKAN TURAN
PELİN ÖZLEM ŞİMŞEK KİPER
Dilan ÇOLAK
GÜLEN EDA ÜTİNE
OSMAN KORAY BODUROĞLU
Pages
229–232
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

Ocular fi ndings in this syndrome may be special and particularly optic nerve head changes may necessitate further investigation.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The purpose of the present case report is to describe and discuss important ocular fi ndings in Noonan syndrome.
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Key Findings & Data:Detailed ophthalmological examination of two patients with Noonan syndrome was performed.
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Conclusion & Impact:Ocular fi ndings in this syndrome may be special and particularly optic nerve head changes may necessitate further investigation.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

The purpose of the present case report is to describe and discuss important ocular fi ndings in Noonan syndrome. Detailed ophthalmological examination of two patients with Noonan syndrome was performed. Ocular fi ndings were discussed in detail. The leading ocular fi ndings in the fi rst case were; astigmatism, amblyopia and high cup/disc ratio whereas in the second case colobomatous changes of the optic nerve head and myelinated nerve fi bers were prominent. Noonan syndrome is among the neuro-cardio-facio-cutaneous syndromes also called ''RASopathies''. Ocular fi ndings in this syndrome may be special and particularly optic nerve head changes may necessitate further investigation.

Özet

Bu olgu sunumunda amaç, Noonan sendromundaki önemli göz bulgularını tanımlamak ve tartışmaktır. Noonan sendromu tanısıyla takip edilen iki hastanın detaylı oftalmolojik muayeneleri yapılmıştır. Bulgular ayrıntılı olarak tartışılmıştır. Ön plana çıkan göz bulguları ilk olguda astigmatizma ve ambliyopi ile birlikte yüksek çukurluk/disk oranı iken ikinci olguda optik sinir başı kolobomatöz değişikliği ve miyelinli sinir lifi dir. Noonan sendromu RASopatiler olarak da adlandırılan nöro-kardiyo-fasiyo-kutanöz sendromlar arasında yer almaktadır. Noonan sendromunda görülen göz bulguları özellikli olabilmektedir ve özellikle optik sinir başı değişiklikleri ileri araştırma yapmayı gerektirebilmektedir.

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Cite This Article

ŞEKEROĞLU, H. T., TURAN, K. E., KİPER, P. Ö. Ş., ÇOLAK, D., ÜTİNE, G. E., BODUROĞLU, O. K. (2017). OcularFindings in Noonan Syndrome: Two Cases and Review of the Literature. Glokom Katarakt, Cilt: 12 - Sayı: 3, 229–232. https://ajindex.com/articles/173417

References (8)

  1. Utine GE. RASopatiler: Nöro-Kardiyo-Fasiyo-Kutanöz Sendromlar. Turkiye Klinikleri J Pediatr Sci 2011; 7: 92-8. 2- van der Burgt I. Noonan syndrome. Orphanet J Rare Dis 2007; 2: 4
  2. Lee NB, Kelly L, Sharland M. Ocular manifestations of Noonan syndrome. Eye (Lond). 1992; 6: 328-34
  3. Allonson J, Roberts AE. Noonan syndrome. In Pagon RA, Adam MP, Ardinger HH, et al. editors. GeneReviews [Internet]. Seattle (WA); University of Washington, Seattle; 1993-2016
  4. Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465-8
  5. Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutation cause Noonan syndrome. Nat Genet 2006; 38: 331-6
  6. Alfi eri P, Cesarini L, Zampino G, et al. Visual function in Noonan and LEOPARD syndrome. Neuropediatrics 2008; 39: 335-40
  7. Marin Lda R, da Silva FT, de Sá LC, et al. Ocular manifestations of Noonan syndrome. Ophthalmic Genet. 2012; 33: 1-5
  8. Reynolds DJ, Rubin SE, Fox J, et al. Ocular manifestations of Noonan syndrome in the pediatric patient. J AAPOS. 2004; 8: 282-3.