Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie۲۰۲۶نمایه شده در PubMed
Jacqueline Fröhlich, Francesco Testa, Karolina Kaminska, Marianthi Karali, Roberta Zeuli, Francesca Cancellieri, Susanne Roosing, Mathieu Quinodoz, Francesca Simonelli, Carlo Rivolta, Sandro Banfi, Giacomo Calzetti
چکیده
To report a novel genetic cause of non-syndromic retinitis pigmentosa (RP) due to biallelic variants in the CLUAP1 gene. Two unrelated simplex cases (P1, P2) with non-syndromic RP were examined. Clinical data included visual acuity, kinetic visual field, optical coherence tomography, fundus…
متن کامل چکیده در سایت ناشر در دسترس است.
DOI: 10.1007/s00417-026-07469-w