Dr.ANANYA GOSWAMI

DR PALLAVI SINGH, Dr. PRADEEP SHARMA, DR. AMAR PUJARI

Abstract

A 12-year-old boy presented to us with facial dysmorphism, intellectual disability and dolichocephaly, with V-pattern exotropia and no significant inferior oblique muscle overaction. An NCCT scan showed heterotopic extra-ocular muscle pulleys, with all the recti muscles being excyclorotated bilaterally. On investigation for genetic abnormalities, he was found to have a chromosome 12q24.31 microdeletion, a rare genomic imbalance. He was surgically managed with recession-resection surgery of the recti with vertical shifting to correct for heterotopic pulleys. Post-operatively, the child did well, with a mild residual exophoria. There are only a few reported cases of the chr12q24.31 microdeletion syndrome. We report the first case of this syndrome with associated ocular features and the presence of heterotopic extra-ocular muscle pulleys. We aim to highlight the importance of a thorough genetic evaluation in pediatric patients presenting with strabismus associated with systemic features.