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

Bartol-Puyal, Francisco de Asís (Universidad de Zaragoza) ; Cordón, Beatriz (Universidad de Zaragoza) ; Viladés, Elisa (Universidad de Zaragoza) ; Méndez-Martínez, Silvia ; Ruiz Moreno, Óscar (Universidad de Zaragoza) ; Pablo, Luis (Universidad de Zaragoza)

Resumen: 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.

Idioma: Inglés

DOI: 10.1007/s10633-024-09996-5

Año: 2024

Publicado en: DOCUMENTA OPHTHALMOLOGICA 149, 3 (2024), 165-170
ISSN: 0012-4486

Tipo y forma: Article (Published version)

Área (Departamento): Área Oftalmología (Dpto. Cirugía)