DR. AMRITA K

PROF.K. KANMANI, DR. RAJ KAWSIK, DR.SIVA PRASANNA

Abstract

Xeroderma pigmentosa is an autosomal recessive disorder involving skin,eyes and nervous system.We report a case of a 6yr old male born to a consaginous marriage presented with developmental delay and stunted growth .On examination redness and peeling of skin with multiple lentigens present around periorbital area.The child was fixing and following light.Ocular examination revealed freckle-like pigmented macules in the bulbar conjunctiva and ill sustained pupils . Fundus picture showed retinal pigment epithelium changes and absence of foveal reflex .

Xeroderma pigmentosa mostly confines to the anterior segment which includes photophobia,conjunctival xerosis , recurrent conjunctivitis , pigmented macules in bulbar conjunctiva.But Xeroderma patients are known for neurodegeneration with significant reduction in retinal nerve fibre layer and macular thickness.This case of child with Xeroderma pigmentosa with ophthalmic manifestations is presented for its unique clinical interest.