TJ-CEO
2017 , Vol 12 , Num 3
Ocular Findings in Noonan Syndrome: Two Cases and Review of the Literature
1Doç. Dr., Hacettepe Üniversitesi Tıp Fakültesi, Göz Hastalıkları, Ankara - TÜRKİYE2Uz. Dr., Hacettepe Üniversitesi Tıp Fakültesi, Göz Hastalıkları, Ankara - TÜRKİYE
3Doç. Dr., Hacettepe Üniversitesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Genetik Bilim Dalı, Ankara - TÜRKİYE
4Asist. Dr., Hacettepe Üniversitesi Tıp Fakültesi, Göz Hastalıkları, Ankara - TÜRKİYE
5Prof. Dr., Hacettepe Üniversitesi Çocuk Sağlığı ve Hastalıkları Anabilim Dalı, Genetik Bilim Dalı, Ankara - TÜRKİYE 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. Keywords : Coloboma, cup/disc ratio, glaucoma, myelinated nerve fi bres, Noonan syndrome