Retinal Thinning and Neurodegeneration in Xeroderma Pigmentosum: Evidence from Optical Coherence Tomography (.pdf)

Xeroderma pigmentosum (XP) is a rare autosomal recessive disease with cutaneous, ophthalmic and neurological manifestations. Although the etiology for XP neurodegeneration is poorly understood, it is known that complementation groups C, E and XP variants (V) are spared the severe, progressive neurological deficits that occur in more than 25% of patients from groups A, B, D, F and G. The aim of this study was to explore the association between retinal thickness measurements and neurodegeneration in patients with XP from different complementation groups.