Xeroderma Pigmentosum: Ocular Findings in an Isolated Brazilian Group with an Identified Genetic Cluster.

Maria Claudia ScheliniLuis Fernando O B ChavesMarcia C ToledoFrancisco W RodriguesTauan de OliveiraDavid L C IsaacMarcos Avila

Published in: Journal of ophthalmology (2019)

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.

Keyphrases

optic nerve
systematic review
optical coherence tomography
copy number
gene expression
drug induced
dna methylation