Case report of visual quality in a patient with nephronophthisis 12- associated retinopathy secondary to TTC21B mutation.

Autor: Bartol-Puyal FA; Ophthalmology department, Miguel Servet University Hospital, Paseo Isabel La Católica, 1-3 50009, Zaragoza, Spain. franbarpuy@unizar.es.; Miguel Servet Ophthalmology Research Group (GIMSO), Aragón Institute for Health Research (IIS Aragón), Zaragoza, Spain. franbarpuy@unizar.es.; Universidad de Zaragoza, Zaragoza, Spain. franbarpuy@unizar.es., Cordón B; Ophthalmology department, Miguel Servet University Hospital, Paseo Isabel La Católica, 1-3 50009, Zaragoza, Spain.; Miguel Servet Ophthalmology Research Group (GIMSO), Aragón Institute for Health Research (IIS Aragón), Zaragoza, Spain.; Biotech Vision SLP, Spin-Off Company, University of Zaragoza, Zaragoza, Spain., Viladés E; Ophthalmology department, Miguel Servet University Hospital, Paseo Isabel La Católica, 1-3 50009, Zaragoza, Spain.; Miguel Servet Ophthalmology Research Group (GIMSO), Aragón Institute for Health Research (IIS Aragón), Zaragoza, Spain., Méndez-Martínez S; Miguel Servet Ophthalmology Research Group (GIMSO), Aragón Institute for Health Research (IIS Aragón), Zaragoza, Spain., Ruiz Moreno Ó; Ophthalmology department, Miguel Servet University Hospital, Paseo Isabel La Católica, 1-3 50009, Zaragoza, Spain.; Miguel Servet Ophthalmology Research Group (GIMSO), Aragón Institute for Health Research (IIS Aragón), Zaragoza, Spain., Pablo L; Ophthalmology department, Miguel Servet University Hospital, Paseo Isabel La Católica, 1-3 50009, Zaragoza, Spain.; Miguel Servet Ophthalmology Research Group (GIMSO), Aragón Institute for Health Research (IIS Aragón), Zaragoza, Spain.; Biotech Vision SLP, Spin-Off Company, University of Zaragoza, Zaragoza, Spain.
Jazyk: angličtina
Zdroj: Documenta ophthalmologica. Advances in ophthalmology [Doc Ophthalmol] 2024 Dec; Vol. 149 (3), pp. 165-170. Date of Electronic Publication: 2024 Nov 27.
DOI: 10.1007/s10633-024-09996-5
Abstrakt: Introduction: 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.
Competing Interests: Declarations. Conflict of interest: All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript. Informed consent: Informed consent was obtained the participant included in the study. Human rights: All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
(© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
Databáze: MEDLINE
Externí odkaz: