Abstract
Purpose Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by increased susceptibility to UV radiation- (UVR-) induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. Eight different genes are affected, and the prevalence of the disease differs across the world. The present study describes the main ophthalmologic features and symptoms in patients with XP in this case series. Methods Patients were examined consecutively at the University Hospital of the Federal University of Goias between January 2016 and June 2018. All patients underwent ophthalmologic examination and were asked about their ophthalmological history and the presence of ocular symptoms. Results Twenty-one patients with genetic confirmation were evaluated. The genetic variants XPV and XPC were detected in the patients. The most prevalent findings include eyelid changes, observed in 80.9% of the patients, and ocular surface changes as punctate keratopathy, occurring in 16 patients (76.2%), corneal neovascularization, and corneal opacities. Six patients (28.5%) presented corneoconjunctival tumor. More than half of patients had previous history of treatment of ocular neoplasia. Ocular burning was the most reported symptom. Conclusions The ocular characteristics identified in this study corroborate the existing literature, mainly related to the surface. Concerning the XP variant and the gravity of ocular signs, XPC has earlier and more severe symptoms than XPV. Due to their relative rarity, publications of XP cases are important to understand the possible damages caused by the disease in the eyes and surrounding area.
Highlights
Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder first described by Hebra and Kaposi in 1874 [1]
Eight different genes are affected, which were classified as complementary groups (XP-A, B, C, D, E, F, G, and XPV) [10, 11]. e prevalence of these groups differs across the world, and groups A, C, D, and V are most common in the United States and Europe [7, 10]
XP patients in which TC-NER remains intact do not, in general, suffer from neurological problems and have normal sunburn reactions, Journal of Ophthalmology whereas those in groups in which both sub-branches of NER are affected often develop neurological problems and have abnormal sunburn reactions [8]
Summary
Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster. Xeroderma pigmentosum (XP) is a rare autosomal recessive genetic disorder characterized by increased susceptibility to UV radiation- (UVR-) induced skin pigmentation, skin cancers, ocular surface disease, and, in some patients, sunburn and neurological degeneration. All patients underwent ophthalmologic examination and were asked about their ophthalmological history and the presence of ocular symptoms. E genetic variants XPV and XPC were detected in the patients. Concerning the XP variant and the gravity of ocular signs, XPC has earlier and more severe symptoms than XPV. Due to their relative rarity, publications of XP cases are important to understand the possible damages caused by the disease in the eyes and surrounding area
Sign-in/Register to view highlights & summary 
Published Version (
Free)
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a call