TY - JOUR
T1 - Redefining papillorenal syndrome
T2 - An underdiagnosed cause of ocular and renal morbidity
AU - Parsa, Cameron F.
AU - Silva, Eduardo D.
AU - Sundin, Olof H.
AU - Goldberg, Morton F.
AU - De Jong, M. Robert
AU - Sunness, Janet S.
AU - Zeimer, Ran
AU - Hunter, David G.
N1 - Funding Information:
Supported in part by NIH RR00052-Core grant, an unrestricted grant from Research to Prevent Blindness, The Cara Dunne Fund for Research in Childhood Blindness, The Guerrieni Fund, The Roy and Niuta Titus Foundation and The Helena Rubenstein Foundation. EDS is supported by Programa Praxis XXI, Sub-Programa Ciencia e Tecnologia do 2° Quadro Comunitario de Apoio, Portuguese Ministry of Science and Technology. JSS is the 1999–2000 James S. Adams RPB Scholar.
PY - 2001
Y1 - 2001
N2 - Purpose: 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. Design: Observational case series and genetic study. Participants: Two unrelated probands presenting with absent central retinal vessels and 11 available family members. Testing: 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. Main Outcome Measures: 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.
AB - Purpose: 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. Design: Observational case series and genetic study. Participants: Two unrelated probands presenting with absent central retinal vessels and 11 available family members. Testing: 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. Main Outcome Measures: 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.
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U2 - 10.1016/S0161-6420(00)00661-8
DO - 10.1016/S0161-6420(00)00661-8
M3 - Article
C2 - 11297491
AN - SCOPUS:0035084677
SN - 0161-6420
VL - 108
SP - 738
EP - 749
JO - Ophthalmology
JF - Ophthalmology
IS - 4
ER -