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...

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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
Descripción
Sumario: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, with preserved visual acuity. Genomic sequencing revealed a heterozygous nonsense PAX2 mutation (C > G p. (Tyr73*) at position 219 in exon 3) associated with PAPRS. Parents of the proband did not display phenotypic features of PAPRS and were confirmed to be without the PAX2 mutation.

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