Dr. NAMITHA MOHAN

Dr. MOHAN RAJAN, Dr.Supriya Dabir

Abstract

S cone syndrome is a form of retinal dystrophy which is characterised by hyperfunction of S cones and severe impairment of M and L cones with non recordable rod function. It shows an AR inheritance with the impairment of NR2E3 gene. It presents usually in the first decade of life with nyctalopia and hemeralopia as symptoms .

I like to present the case of a 11 year old female born out of a 1st degree consanguinous marriage presented in our opd for routine checkup. No h/o night blindness photophobia or colour vision defects. Her BCVA was 6/6p in the right eye and 6/6 in left with colour vision as normal . On fundus examination there was diffuse rpe alteration with mid peripheral yellow deposits along the vascular arcades in both eyes , macular cystic changes in the right eye and a small retinal hole in left eye. We advised for ERG OCT FFA which all correlated for our diagnosis. We advised for left eye barrage laser for the retinal hole and supportive measures.