FP1426 : Ocular manifestations with corneal OCT changes in a rare case of Xeroderma pigmentosum

 

Dr.PRATHIMA LINGA, L18636

A detailed history with a comprehensive ocular examination was done. Ocular surface health analysis, an SD- OCT, pachymetry and specular microscopy were done.His BCVA was 6/9 in both eyes.Eye lids skin has freckle -like pigmentation, conjunctiva showed conjunctival melanosis and cornea showed a diffuse haze with pigmentation in both the eyes. LSCD was noted in both eyes. OCT of cornea showed hyper reflective changes with significant changes in the anterior stroma in both the eyes. There was increased corneal thickness on pachymetry. Specular microscopy showed damage to the endothelium.Cases of Xeroderma pigmentosum need to be referred to an Ophthalmologist. Health education and genetic counselling are important. When corneal haze increases and affects vision , a penetrating keratoplasty and a limbal stem cell transplantation may be required. Pre-malignant lesions of the lids and ocular surface have to be identified early and followed up to detect malignancies early and treat them.