Abstract

A 15-yr old male came to us with complaints of Nyctalopia since childhood, wearing spectacles for the past 5-yrs.He is 1st born child of 2nd degree consanguineous marriage.Examination reveals Right Convergent Squint to Alternate Convergent Squint present. Anterior segment was normal .Refraction: RE)3/60 with +6.00 DS/+1.00DC 90°6/36 NIP & LE)6/18 with +4.00 DS/+1.00 DC90°6/9 NIP. Both eye Colour vision – defective.Fundus examination reveals both eye Pigmentary changes noted along all arcades and in posterior pole, Macula FR Absent .On OCT Macula of both eye Macular schisis noted. Full field ERG shows normal photopic and scotopic responses .We suspected S Cone syndrome and ordered specific S cone, L Cone and M Cone ERG. S cone ERG shows supernormal amplitudes. L Cone and M Cone ERG shows reduced amplitudes, Suggestive of ENHANCED S CONE SYNDROME. As it is an inherited progressive retinal degeneration ,we screened family members also. None of them detected to have disease .