DR. DIVYA KESARWANI

DR. SHRADDHA GUPTA, DR. RAKESH SHARMA

Abstract

Delineation of new syndromes and differential diagnosis between partially overlapping syndromes remain the most exciting and delicate task of clinician. Here we report a 24 year old male presented with diminution of vision in both eyes and drooping of upper eyelid in both eyes.

Patient is well oriented with no evidence of subnormal intelligence. Chin elevation is present with absent lid creases and increase intercanthal distance. Bell’s phenomenon was poor with mild lagophthalmos. On ocular examination BE shows ptosis (severe in RE) with inferior iris coloboma. Also, Choroidal coloboma in both eyes were threatening optic disc and temporal macula.

Triad of ptosis, hypertelorism and coloboma is associated with various syndromes such as Noonan syndrome, Baraitser -Winter syndrome but due to lack of all other systemic components and escpecially mental retardation our case may be considered as ocular variant of any of these syndromes.