PMID- 29339962
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20191120
IS  - 0165-8107 (Print)
IS  - 1744-506X (Electronic)
IS  - 0165-8107 (Linking)
VI  - 41
IP  - 5
DP  - 2017 Oct
TI  - Three New PAX2 Gene Mutations in Patients with Papillorenal Syndrome.
PG  - 271-278
LID - 10.1080/01658107.2017.1307995 [doi]
AB  - Papillorenal syndrome (PAPRS; Mendelian Inheritance in Man [MIM] 120330) is an 
      autosomal dominant disease characterised by the presence of congenital renal and 
      optic nerve abnormalities associated with mutations of the PAX2 gene. In this 
      article, the authors present four patients with PAPRS who are carriers of three 
      new PAX2 mutations, as well as another patient with a possible non-pathogenic 
      variant of the PAX2 gene. All patients were given a full neurophthalmological 
      examination, and all patients underwent a genetic test for PAX2. Patients 1 and 2 
      presented with the classic signs of PAPRS: renal disease associated with a 
      congenitally abnormal optic disc, whereas patients 3 and 4 only presented with a 
      congenital optic nerve abnormality and no renal involvement. In patients 1 and 2, 
      the optic nerves were affected by the presence of a central excavation within the 
      optic disc, absence of the central retinal artery, as well as multiple 
      cilioretinal arteries radiating from the periphery of the optic disc. Bilateral 
      optic nerve pits were seen in patient 3, and lastly, in patient 4 there was the 
      presence of superficial gliotic tissue on the left optic disc. All patients 
      presented with a missense mutation in the PAX2 gene, where in patient 4 possibly 
      being only a non-pathogenic variant of the gene. In conclusion, the authors 
      present two patients with classic clinical signs of PAPRS, having two new PAX2 
      mutations, which until now have not been described in the current literature; 
      another patient with a new PAX2 mutation showing only ocular manifestations of 
      the disease, and lastly, a patient who is a carrier of a variant of the PAX2 gene 
      has a congenitally abnormal optic disc, which is probably not related to PAPRS.
FAU - Galvez-Ruiz, Alberto
AU  - Galvez-Ruiz A
AD  - King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
FAU - Lehner, Anthony J
AU  - Lehner AJ
AD  - Orthoptic Division, Vision Eye Institute, New South Wales, Australia.
FAU - Galindo-Ferreiro, Alicia
AU  - Galindo-Ferreiro A
AD  - King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
FAU - Schatz, Patrik
AU  - Schatz P
AUID- ORCID: 0000-0002-1747-0928
AD  - King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
AD  - Department of Ophthalmology, Department of Clinical Sciences, Scane County 
      University Hospital, University of Lund, Lund, Sweden.
LA  - eng
PT  - Case Reports
DEP - 20170508
PL  - England
TA  - Neuroophthalmology
JT  - Neuro-ophthalmology (Aeolus Press)
JID - 8408966
PMC - PMC5762175
OTO - NOTNLM
OT  - Multicystic dysplastic kidney
OT  - PAX2 gene
OT  - papillorenal syndrome
OT  - renal coloboma syndrome
OT  - renal hypoplasia
EDAT- 2018/01/18 06:00
MHDA- 2018/01/18 06:01
PMCR- 2018/05/08
CRDT- 2018/01/18 06:00
PHST- 2017/02/26 00:00 [received]
PHST- 2017/03/13 00:00 [revised]
PHST- 2017/03/14 00:00 [accepted]
PHST- 2018/01/18 06:00 [entrez]
PHST- 2018/01/18 06:00 [pubmed]
PHST- 2018/01/18 06:01 [medline]
PHST- 2018/05/08 00:00 [pmc-release]
AID - 1307995 [pii]
AID - 10.1080/01658107.2017.1307995 [doi]
PST - epublish
SO  - Neuroophthalmology. 2017 May 8;41(5):271-278. doi: 10.1080/01658107.2017.1307995. 
      eCollection 2017 Oct.