Corneal Changes in Xeroderma Pigmentosum: A Clinicopathologic Report

Corneal endothelium in xeroderma pigmentosum: clinical specular microscopy study

“…The findings of the study are corroborative with the histological observation of reduced endothelial cells in the patients with xeroderma pigmentosum who had undergone keratoplasty for corneal opacification 10. The damage to the corneal endothelium in this disorder is acquired, progressive and irreversible.…”

“…Our earlier study on histology of corneal buttons from patients with xeroderma pigmentosum found markedly reduced endothelial cells in the studied specimens 10. We propose that, although the endothelium is the innermost layer of the cornea, the ultraviolet radiations can penetrate the anterior corneal layers and exert damaging effects on the endothelial monolayer 13 14.…”

Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum

“…A deletion c.1643_1644delTG (p.V548AlafsX25) was found in ~87% of the North African population . However, only a few studies are available from India with unknown molecular etiology …”

“…[2][3][4] Incidence of XP in the Indian population is not reported possibly due to the lack of awareness or due to the lack of diagnostic facilities leading to the disease being undiagnosed in several areas of the Indian subcontinent. [5][6][7][8][9][10] Clinically, XP includes high sensitivity to sunlight and freckle-like pigmentation, ocular abnormalities, and >10,000-fold increased risk of developing neoplasms in sun-exposed areas of the skin, mucous membranes, and eyes. 1,11 Numerous neurological involvements are also observed with varied age at onset and severity of the disease.…”

Bilateral big-bubble deep anterior lamellar keratoplasty for vascularised corneal opacity in a patient with xeroderma pigmentosum

“…Chaurasia and Ramappa5 have shown that patients with XP can present with only corneal oedema and there can be a good outcome with endothelial keratoplasty. They have also shown that performing anterior lamellar keratoplasty in these patients may not be a good option because of poor endothelial cells noted on histopathology 6. We report a case of XP with vascularised corneal scars in both eyes that was successfully treated by deep anterior lamellar keratoplasty (DALK) with an uneventful postoperative course.…”