Bilateral limbal stem cell deficiency with xeroderma pigmentosum in a young Asian child.

KEY CLINICAL MESSAGE: Xeroderma pigmentosum is an autosomal recessive disorder with various ocular manifestations of which bilateral limbal stem cell deficiency is a rare manifestation. Timely diagnosis and meticulous management are vital in these cases to prevent irreversible ocular sequelae.

ABSTRACT: Bilateral limbal stem cell deficiency (LSCD) can be a rare manifestation in patients afflicted with xeroderma pigmentosum (XP). The authors report a rare case of a 12-year-old boy who presented with redness and defective vision and was diagnosed with bilateral LSCD and hyperpigmented lesion over the face and trunk suggestive of XP.