De Novo PAX2 Mutation With Associated Papillorenal Syndrome: A Case Report and Literature Review of Penetrance and Expressivity

We report the ocular findings of a Caucasian female with papillorenal syndrome (PAPRS) from a de novo PAX2 mutation. She presented to our clinic with early-onset end-stage renal disease. Ophthalmologic exam revealed bilateral band keratopathy, abnormal optic disc configuration, and Elschnig spots, w...

Descripción completa

Detalles Bibliográficos
Autores principales: Ali, Maryam, Chang, Michael, Leys, Monique
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Ophthalmology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550200/
https://www.ncbi.nlm.nih.gov/pubmed/36249605
http://dx.doi.org/10.7759/cureus.29026

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9550200/
https://www.ncbi.nlm.nih.gov/pubmed/36249605
http://dx.doi.org/10.7759/cureus.29026

Ejemplares similares