DR. APARNA KRISHNAN

DR. NEELAM PAWAR, DR.MEENAKSHI RAVINDRAN

Abstract

Cowden syndrome is genetic disorder with PTEN mutation, characterised by multiple tumor like growths called hamartomas and with increased risk of various cancers.Here we report a 6 year old boy,with developmental delay, macrocephaly, genetically proven as cowden syndrome with autistic syndrome.His MRI Brain showed lobar holoprosencephaly.His best corrected visual acuity was 6/6 in Right eye and 6/12 in L eft eye with normal cycloplegic refraction. He had 10 Degree exotropia in Left eye with mild right eye hypertropia.Orthoptic evaluation showed alternating exotropia of 18 PD with Right eye mild hypertropia and Right eye dominance.Ocular movements showed Inferior oblique overaction of grade 3 in both eyes with dilated fundus showing evidence of extorsion of grade 3 in both eye.There were no evidence of retinal hamartomas or uveitisHe was advised to do Right eye patching in view of the starbismic amblyopia in Left eye.