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.
ABSTRACT
PURPOSE: To evaluate the agreement between multimodal imaging-MI (fluorescein angiography, indocyanine green angiography, optical coherence tomography) and optical coherence tomography angiography (OCTA) in the detection of choroidal neovascularization (CNV) in patients with pigment epithelial detachment with subretinal/intraretinal fluid (PED+F) compared to patients with PED without subretinal/intraretinal fluid (PED-F). METHODS: Twenty-two eyes of 15 patients were divided into two groups (PED+F and PED-F). All patients underwent MI and OCTA with manual and automatic segmentation. MI findings were compared to OCTA findings and then analysed. RESULTS: In the PED+F group (10 eyes), all studied eyes demonstrated CNV in MI. In manual segmentation OCTA assessment, 9 of 10 eyes (90%) were detected with CNV. When evaluated by automatic segmentation, 8 of 10 eyes (80%) revealed the presence of CNV. In the PED-F (12 eyes) group, all eyes did not demonstrate CNV in MI and OCTA evaluations, either by manual or automatic segmentation. The agreement between MI and OCTA shows concordance (k: 0.908; 95% CI, 0.491-1.000); the evaluation of the agreement between the automatic and manual segmentation also shows concordance (k: 0.904; 95% CI, 0.488-1.000). CONCLUSION: The solid agreement between the multimodal imaging regarding the ability of OCTA to identify possible initial CNV in a patient with PED-F was observed. Accuracy was 95.45%. In addition, the agreement between manual and automatic segmentation to identify CNV on OCTA was also shown.
