[Ocular manifestations in xeroderma pigmentosum]

Area of Science:

• Ophthalmology
• Genetics
• Dermatology

Context:

• Xeroderma pigmentosum (XP) and Cockayne syndrome (CS) are rare progeroid syndromes caused by DNA repair gene defects.
• These conditions lead to premature aging and increased sensitivity to sunlight.
• Ocular manifestations are common but not fully characterized in these syndromes.

Purpose:

• To evaluate the spectrum of ocular changes in patients with XP and CS.
• To document the frequency and type of eye abnormalities in affected individuals.
• To highlight the association between DNA repair deficiencies and visual health.

Summary:

• Ocular examinations revealed significant findings in XP patients, including blepharitis, distichiasis, madarosis, and lentigines solares.
• Conjunctival and corneal abnormalities such as tumors, telangiectasia, pterygia, pinguecula, melanosis, nevi, scars, and vascularization were observed.
• Dry eye symptoms, evidenced by reduced tear production and shortened tear break-up time, were prevalent in XP patients. The CS patient exhibited pupillary rim atrophy, subcapsular cataract, and retinal pigment epithelial changes.

Impact:

• This study underscores the high prevalence of ocular surface disease and malignancy risk in XP patients.
• Findings emphasize the need for regular ophthalmic surveillance in individuals with XP and CS.
• Understanding these ocular complications can guide early intervention and management strategies for patients with these rare genetic disorders.