000109403 001__ 109403
000109403 005__ 20230519145455.0
000109403 0247_ $$2doi$$a10.1371/journal.pone.0260241
000109403 0248_ $$2sideral$$a125435
000109403 037__ $$aART-2021-125435
000109403 041__ $$aeng
000109403 100__ $$aEsteban, Olivia
000109403 245__ $$aNew correlations between ocular parameters and disease severity in Spanish patients with Gaucher’s disease Type I
000109403 260__ $$c2021
000109403 5060_ $$aAccess copy available to the general public$$fUnrestricted
000109403 5203_ $$aBackground: Gaucher’s disease is associated with a high variety of structural and functional abnormalities in the eye, which do not always affect visual acuity. The purpose of this study was to analyse ocular features in Spanish patients with Gaucher’s disease type I, and to investigate their possible correlation with phenotypic and burden parameters of this entity. Methods: This cross-sectional observational study compared parameters belonging to 18 eyes from 9 Spanish patients with Gaucher’s disease Type I with 80 eyes from 40 healthy controls. Complete ophthalmological examination included choroidal and retinal thickness maps with swept source optical coherence tomography. Systemic analysis included genotype, plasmatic biomarkers, [ferritin, chemokine ligand 18 (CCL18) and chitotriosidase (ChT)] and severity scoring systems results [“Gaucher Disease Severity Score Index Type I" (GauSSI-I) and “Gaucher disease severity scoring system” (GD-DS3)]. Results: Nine subjects (18 eyes) were cases (female: 55.5%, mean age 45 years; male: 44.5%, mean age 36 years) and 40 subjects (80 eyes) were controls (female: 49%, mean age 50 years; male: 51%, mean age 55 years). There were no statistically significant differences when comparing ocular parameters (visual acuity; axial length, refractive errors, corneal parameters, lens, retinal and choroidal thickness) between case and control subjects (p>0.05). A statistically significant moderate correlation was observed between lower retinal thickness and choroidal quadrants thickness and greater disease severity scores. A lower central retinal thickness also correlates with higher biological plasmatic levels, and has a statistically significant association with the most affected patient with genotype N370S/Del 55pb. Conversely, higher pachymetry involves a more severe plasmatic concentration of biomarkers. Conclusions: Our results suggest that pachymetry, and retinal and choroidal thickness, are associated with burden biomarkers and disease severity index scores in Spanish patients with Gaucher’s disease Type I.
000109403 540__ $$9info:eu-repo/semantics/openAccess$$aby$$uhttp://creativecommons.org/licenses/by/3.0/es/
000109403 590__ $$a3.752$$b2021
000109403 592__ $$a0.852$$b2021
000109403 591__ $$aMULTIDISCIPLINARY SCIENCES$$b29 / 74 = 0.392$$c2021$$dQ2$$eT2
000109403 593__ $$aMultidisciplinary$$c2021$$dQ1
000109403 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000109403 700__ $$0(orcid)0000-0001-9760-1248$$aTorralba, Miguel Angel$$uUniversidad de Zaragoza
000109403 700__ $$0(orcid)0000-0002-4034-1710$$aOlivera, Susana
000109403 700__ $$aMartinez, Mireya
000109403 700__ $$0(orcid)0000-0001-7962-6417$$aMontes, Paula
000109403 700__ $$aMarco, Sara
000109403 700__ $$aAscaso, Javier
000109403 7102_ $$11007$$2610$$aUniversidad de Zaragoza$$bDpto. Medicina, Psiqu. y Derm.$$cArea Medicina
000109403 773__ $$g16, 12 (2021), e0260241 [18 pp.]$$pPLoS One$$tPLoS ONE$$x1932-6203
000109403 8564_ $$s1310705$$uhttps://zaguan.unizar.es/record/109403/files/texto_completo.pdf$$yVersión publicada
000109403 8564_ $$s2241959$$uhttps://zaguan.unizar.es/record/109403/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada
000109403 909CO $$ooai:zaguan.unizar.es:109403$$particulos$$pdriver
000109403 951__ $$a2023-05-18-14:49:32
000109403 980__ $$aARTICLE