DR. DISHA AGARWAL

DR. NIRUPAMA KASTURI, DR. HEMANTH RAMACHANDAR

Abstract

A 12-year-old boy was brought to the hospital by his parents with drooping of the right eyelid and diminution of vision since birth. There was no history of systemic congenital anomalies or any other neurological weaknesses. There was no significant family history. He was on treatment for nephrotic syndrome. On examination, there was a chin lift, severe right ptosis, absent lid crease, and frontalis overaction causing high arched right eyebrows. The best-corrected visual acuity was 6/24 in the right eye. EOM had a -4 restriction on upgaze with adduction of both eyes on attempted upgaze. Also, narrowing of palpebral fissures on adduction and eyelid flutter were noted. He was diagnosed with a mixed presentation of double elevator palsy, Marcus Gunn ptosis, and Duane’s retraction syndrome due to congenital cranial disinnervation disorder and planned for squint and ptosis correction with amblyopia therapy.