A new mutation in the PAX2 gene in a Papillorenal Syndrome patient.

ABSTRACT:

Purpose

To present a new mutation in a patient with Papillorenal Syndrome (PAPRS).

Observations

PAPRS is an autosomal dominant disease that involves ocular and renal abnormalities. We present a patient with PAPRS with a genetically diagnosed PAX2 and new pathogenic mutation. A complete ophthalmological, neurological, nephrological and Ears-Nose-Throat (ENT) examination were undertaken. The patient suffered from Focal Segmental Glomerulosclerosis (FSGS) and some typical ophthalmological signs of PAPRS, including optic nerve coloboma and optic disc pit (ODP) maculopathy associated with an abnormal retinal vessel distribution and numerous cilioretinal arteries in the right eye. The left eye showed similar vessel abnormalities although the optic disc had a normal morphology.

SUBMITTER: Rachwani Anil R 

PROVIDER: S-EPMC6806373 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature