DR. PRAGYA AHUJA

DR. WAJAHAT RIZVI, DR.AHMED ABDULLAH

Abstract

Lebers congenital amaurosis is an important cause of congenital blindness. We report a case of two siblings of Lebers amaurosis. The first sibling was diagnosed to be a case of Lebers amaurosis with hypertension with hypermetropia. He presented with classical signs of sluggish pupillary reaction, oculo-digital sign, rotators nystagmus with absent ERGs. The younger sibling also presented to us one year later with complaints of delayed milestones, non fixation, and similar pupillary and vision abnormalities with hypermetropia. Through this e poster we would like to highlight this important syndrome and the spectrum of its clinical presentation.