DR. DIVYA KESARWANI

Dr. SHRADDHA GUPTA, DR. DIVYA KESARWANI, 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 who presented with diminution of vision in both eyes, left eye more than right eye and drooping of upper eyelid in both eyes, right eye more than left eye.

On examination patient is well oriented with time, place and person with no evidence of subnormal intelligence.

Chin elevation is present with absent lid creases and increase intercanthal distance.

On ocular examination RE shows severe ptosis involving visual axis with inferior iris and choroidal coloboma. LE shows mild ptosis with inferior iris and choroidal coloboma.

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 our case may be considered as ocular variant of any of these syndromes.