Early diagnosis of the papillorenal syndrome by optic disc morphology

Journal of Neuro-Ophthalmology

Volumn 25, Issue 3, 2005, Pages 209-211

  Khan, Arif O ^a   Nowilaty, Sawsan R ^a  

^a KING KHALED EYE SPECIALIST HOSPITAL   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; FAMILY HISTORY; GENE; GENE MUTATION; HUMAN; INFANT; KIDNEY DYSFUNCTION; MALE; OPTIC DISK ANOMALY; PAPILLORENAL SYNDROME; PAX2 GENE; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; ADULT; CILIARY ARTERIES; COLOBOMA; FLUORESCEIN ANGIOGRAPHY; HUMANS; INFANT; KIDNEY; KIDNEY FAILURE; KIDNEY TRANSPLANTATION; MALE; OPTIC DISK; OPTIC NERVE; PEDIGREE; SYNDROME; ULTRASONOGRAPHY, DOPPLER;

EID: 24944544929     PISSN: 10708022     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.wno.0000177303.67715.74     Document Type: Article

References (5)

1. Online Mendelian Inheritance in Man, OMIM (TM). Baltimore: Johns Hopkins University, MIM Number: {#120330}: {3/24/2003}: World Wide Web URL: http://www.ncbi.nlm.nih.gov/omim/.
2. Parsa CF, Silva ED, Sundin OH, et al. Redefining papillorenal syndrome: An underdiagnosed cause of ocular and renal morbidity. Ophthalmology 2001;108:738-49.
3. Parsa CF, Cheeseman EW Jr, Maumenee IH. Demonstration of the exclusive cilioretinal vascular system supply the retina in man: Vacant discs. Trans Am Ophthalmol Soc 1998;96:95-106; discussion 106-9.
4. Chung GW, Edwards AO, Schimmenti LA, et al. Renal-coloboma syndrome: Report of a novel PAX2 gene mutation. Am J Ophthalmol 2001;132:910-14.
5. Schimmenti LA, Cunliffe HE, McNoe LA, et al. Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations. Am J Hum Genet 1997;60: 869-78.