Dr. Akila Ramkumar, R14936, Dr. M Shahid Alam
AIM : To provide a detailed clinical information on a case of Noonan’s syndrome with ocular associations
BACKGROUND : It is a sporadic or inherited disorder affecting one in 1000-2500 children . It has a spectrum of associations including ocular abnormalities
CASE : A 9yr old male child presented with left Mono-ocular-elevation-deficit and Marcus-Gunn- Jaw-winking-ptosis , esotropia, refractive error , amblyopia and disc- coloboma. Systemic associations included multiple cardiac anomalies , facial dysmorphism , ,webbed neck ,cryptorchidism ,micro-penis and mental retardation. The child underwent squint correction followed by ptosis correction .
CONCLUSION : Ocular anomalies in Noonan’s syndrome include strabismus, refractive error, amblyopia, ptosis, nystagmus and fundus anomalies. The case is being presented for its rare association with MED and MGJW ptosis