000147689 001__ 147689
000147689 005__ 20241220131257.0
000147689 0247_ $$2doi$$a10.1007/s10633-024-09996-5
000147689 0248_ $$2sideral$$a141109
000147689 037__ $$aART-2024-141109
000147689 041__ $$aeng
000147689 100__ $$0(orcid)0000-0002-4476-6003$$aBartol-Puyal, Francisco de Asís$$uUniversidad de Zaragoza
000147689 245__ $$aCase report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation
000147689 260__ $$c2024
000147689 5203_ $$aIntroduction: Nephronophthisis 12 is a rare condition and only two cases have been reported to associate with retinopathy. Herein we present the third case in scientific literature, and the first with vision-quality exams.
Clinical case: The case was a 28-year-old male with the mutations c.626C > T (p.Pro209Leu) and c.1317T > G (p.Tyr439*). Bilateral atrophy of outer retinal layers and retinal pigmented epithelium were observed, resembling a bull’s eye maculopathy. Visual acuity, as well as contrast sensitivity dropped with mesopic conditions. He presented more difficulties in differentiating colors within blue-yellow range, and some degree of halos were detected. Multifocal electroretinogram detected little retinal function, and visual field detected a full scotoma. He referred poorer quality of life due to emotional wellbeing, more than to difficulties in reading or accessing information.
Conclusion: Although rare, nephronophthisis 12 may be caused by genetic mutations that associate severe retinopathy.
000147689 540__ $$9info:eu-repo/semantics/closedAccess$$aAll rights reserved$$uhttp://www.europeana.eu/rights/rr-f/
000147689 655_4 $$ainfo:eu-repo/semantics/article$$vinfo:eu-repo/semantics/publishedVersion
000147689 700__ $$aCordón, Beatriz$$uUniversidad de Zaragoza
000147689 700__ $$0(orcid)0000-0001-9411-5834$$aViladés, Elisa$$uUniversidad de Zaragoza
000147689 700__ $$0(orcid)0000-0001-6072-1545$$aMéndez-Martínez, Silvia
000147689 700__ $$0(orcid)0000-0001-6664-6275$$aRuiz Moreno, Óscar$$uUniversidad de Zaragoza
000147689 700__ $$0(orcid)0000-0003-2389-8282$$aPablo, Luis$$uUniversidad de Zaragoza
000147689 7102_ $$11013$$2646$$aUniversidad de Zaragoza$$bDpto. Cirugía$$cÁrea Oftalmología
000147689 773__ $$g149, 3 (2024), 165-170$$pDoc. ophthalmol.$$tDOCUMENTA OPHTHALMOLOGICA$$x0012-4486
000147689 8564_ $$s954738$$uhttps://zaguan.unizar.es/record/147689/files/texto_completo.pdf$$yVersión publicada$$zinfo:eu-repo/date/embargoEnd/2025-11-27
000147689 8564_ $$s1835519$$uhttps://zaguan.unizar.es/record/147689/files/texto_completo.jpg?subformat=icon$$xicon$$yVersión publicada$$zinfo:eu-repo/date/embargoEnd/2025-11-27
000147689 909CO $$ooai:zaguan.unizar.es:147689$$particulos$$pdriver
000147689 951__ $$a2024-12-20-12:01:57
000147689 980__ $$aARTICLE