Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.
OBJECTIVE
To report ocular and renal findings specific to the inheritable entity called papillorenal (also known as renal-coloboma) syndrome and relate these to a common cause.


METHODS
Observational case series and genetic study.


METHODS
Two unrelated probands presenting with absent central retinal vessels and 11 available family members.


METHODS
Doppler ultrasonographic imaging of the optic nerves and kidneys, fluorescein angiography, and genetic testing for PAX2 mutations were performed. In selected cases, indocyanine green angiography, scanning laser ophthalmoscope perimetry, Retinal Thickness Analyzer measurements, visual evoked potentials, and magnetic resonance imaging were also performed.


METHODS
Better defined characteristics of the papillorenal syndrome.


RESULTS
Numerous cilioretinal vessels were present with rudimentary or absent central retinal vessels. Superonasal visual field defects, typical for papillorenal syndrome, corresponded to inferotemporal areas of anomalous retinal and choroidal perfusion and hypoplastic retina. Renal hypoplasia was discovered in two affected members of one family (with previously unsuspected renal failure in one case), and recurrent pyelonephritis was discovered in four affected members of the other family. No PAX2 mutations were detected.


CONCLUSIONS
In the papillorenal syndrome, the hereditary absence of central retinal vessels may be missed, leading to confusion with isolated coloboma, low-tension glaucoma, and morning glory anomaly. Greater awareness of this syndrome will avoid unneeded glaucoma therapy, allow earlier recognition of renal diseases, and allow genetic counseling. We propose that the papillorenal syndrome is a primary dysgenesis that causes vascular abnormalities predominantly affecting the eye, kidney, and urinary tract, leading to hypoplasia of these structures. The absence of defects in the PAX2 gene in these families suggests that mutations in other genes may also be responsible for this syndrome.
Parsa
C F
CF
Wilmer Ophthalmological Institute, Johns Hopkins University School of Medicine, 600 N. Wolfe Street, Baltimore, MD 21287-9237, USA.
Silva
E D
ED
Sundin
O H
OH
Goldberg
M F
MF
De Jong
M R
MR
Sunness
J S
JS
Zeimer
R
R
Hunter
D G
DG
D000328:Adult; D003103:Coloboma / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D004268:DNA-Binding Proteins / Q000235:genetics; D005074:Evoked Potentials, Visual; D005260:Female; D005451:Fluorescein Angiography; D006801:Humans; D007208:Indocyanine Green; D007223:Infant; D007668:Kidney / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D007674:Kidney Diseases / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009898:Optic Disk / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D009900:Optic Nerve / Q000000981:diagnostic imaging; D051762:PAX2 Transcription Factor; D012164:Retinal Diseases / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics; D012171:Retinal Vessels / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000473:pathology; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics; D018615:Ultrasonography, Doppler, Color; D058609:Visual Field Tests; D014794:Visual Fields
D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; D014157:Transcription Factors; D007208:Indocyanine Green