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Page 1
Renal coloboma syndrome.
Dureau P, Attie-Bitach T, Salomon R, Bettembourg O, Amiel J, Uteza Y, Dufier JL. Dureau P, et al. Ophthalmology. 2001 Oct;108(10):1912-6. doi: 10.1016/s0161-6420(01)00722-9. Ophthalmology. 2001. PMID: 11581073
OBJECTIVE: To characterize the ocular features of renal coloboma syndrome. DESIGN: Prospective, observational case series. ...Fundus abnormalities were symmetrical in most cases and unrelated to renal status. CONCLUSIONS: Ophthalmic and renal character …
OBJECTIVE: To characterize the ocular features of renal coloboma syndrome. DESIGN: Prospective, observational ca …
Diverse phenotypes in children with PAX2-related disorder.
Deng H, Zhang Y, Xiao H, Yao Y, Liu X, Su B, Zhang H, Xu K, Wang S, Wang F, Ding J. Deng H, et al. Mol Genet Genomic Med. 2019 Jun;7(6):e701. doi: 10.1002/mgg3.701. Epub 2019 May 6. Mol Genet Genomic Med. 2019. PMID: 31060108 Free PMC article.
PAX2-related ocular abnormalities were found in five of seven cases and three patients were observed to have more than one ocular findings involved. In addition to diverse renal and ocular findings, new phenotypes including congenital ventricular septal defect, skeletal de …
PAX2-related ocular abnormalities were found in five of seven cases and three patients were observed to have more than one ocular fin …
Clinical and genetic variability of PAX2-related disorder in the Japanese population.
Rossanti R, Morisada N, Nozu K, Kamei K, Horinouchi T, Yamamura T, Minamikawa S, Fujimura J, Nagano C, Sakakibara N, Ninchoji T, Kaito H, Ito S, Tanaka R, Iijima K. Rossanti R, et al. J Hum Genet. 2020 Jun;65(6):541-549. doi: 10.1038/s10038-020-0741-y. Epub 2020 Mar 16. J Hum Genet. 2020. PMID: 32203253
Pathogenic variants of paired box gene 2 (PAX2) cause autosomal-dominant PAX2-related disorder, which includes renal coloboma syndrome (RCS). Patients with PAX2-related disorder present with renal and ophthalmological pathologies, as well as with other abnorm …
Pathogenic variants of paired box gene 2 (PAX2) cause autosomal-dominant PAX2-related disorder, which includes renal coloboma …
SEVERE CASE OF RENAL COLOBOMA SYNDROME IN LONG-TERM FOLLOW-UP.
Sels L, Dirven W, Devriendt K, Leys A. Sels L, et al. Retin Cases Brief Rep. 2020 Winter;14(1):77-81. doi: 10.1097/ICB.0000000000000625. Retin Cases Brief Rep. 2020. PMID: 28820764
PURPOSE: To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up. METHODS: Observational case report over a period of 45 years. ...Both had a confirmed mutation in exon 2 of the PAX2 gene. CONCLUSION: Th …
PURPOSE: To characterize the ocular features of a severe case of renal coloboma syndrome in a long-term follow-up. METH …
Phenotypic spectrum and genetics of PAX2-related disorder in the Chinese cohort.
Yang X, Li Y, Fang Y, Shi H, Xiang T, Liu J, Liu J, Tang X, Fang X, Chen J, Zhai Y, Shen Q, Bi Y, Qian Y, Wu B, Wang H, Zhou W, Ma D, Bai H, Mao J, Chen L, Wang X, Gao X, Zhang R, Zhuang J, Zhang A, Jiang X, Xu H, Rao J. Yang X, et al. BMC Med Genomics. 2021 Oct 25;14(1):250. doi: 10.1186/s12920-021-01102-x. BMC Med Genomics. 2021. PMID: 34696790 Free PMC article.
BACKGROUND: Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from renal coloboma syndrome (RCS), congenital anomalies of the kidney and urinary tract (CAKUT) to nephrosis. ...Furthermore, w …
BACKGROUND: Pathogenic variants of PAX2 cause autosomal-dominant PAX2-related disorder, which includes variable phenotypes ranging from r …
Association of PAX2 and Other Gene Mutations with the Clinical Manifestations of Renal Coloboma Syndrome.
Okumura T, Furuichi K, Higashide T, Sakurai M, Hashimoto S, Shinozaki Y, Hara A, Iwata Y, Sakai N, Sugiyama K, Kaneko S, Wada T. Okumura T, et al. PLoS One. 2015 Nov 16;10(11):e0142843. doi: 10.1371/journal.pone.0142843. eCollection 2015. PLoS One. 2015. PMID: 26571382 Free PMC article.
BACKGROUND: Renal coloboma syndrome (RCS) is characterized by renal anomalies and optic nerve colobomas. ...Kidney function and proteinuria were more severe in patients with PAX2 mutations than in those without the mutation. Moreover, the coloboma score …
BACKGROUND: Renal coloboma syndrome (RCS) is characterized by renal anomalies and optic nerve colobomas. ...Kidney func …
Redefining papillorenal syndrome: an underdiagnosed cause of ocular and renal morbidity.
Parsa CF, Silva ED, Sundin OH, Goldberg MF, De Jong MR, Sunness JS, Zeimer R, Hunter DG. Parsa CF, et al. Ophthalmology. 2001 Apr;108(4):738-49. doi: 10.1016/s0161-6420(00)00661-8. Ophthalmology. 2001. PMID: 11297491
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. ...
PURPOSE: To report ocular and renal findings specific to the inheritable entity called papillorenal (also known as renal-coloboma …
Array comparative genomic hybridization analysis in patients with anophthalmia, microphthalmia, and coloboma.
Raca G, Jackson CA, Kucinskas L, Warman B, Shieh JT, Schneider A, Bardakjian TM, Schimmenti LA. Raca G, et al. Genet Med. 2011 May;13(5):437-42. doi: 10.1097/GIM.0b013e318204cfd2. Genet Med. 2011. PMID: 21285886 Free PMC article.
RESULTS: Array analysis of 32 patients detected one case with a deletion encompassing the renal-coloboma syndrome associated gene PAX2. Nonpolymorphic copy number changes were also observed at several candidate chromosomal regions, including 6p12.3, 8q …
RESULTS: Array analysis of 32 patients detected one case with a deletion encompassing the renal-coloboma syndrome assoc …
Further delineation of renal-coloboma syndrome in patients with extreme variability of phenotype and identical PAX2 mutations.
Schimmenti LA, Cunliffe HE, McNoe LA, Ward TA, French MC, Shim HH, Zhang YH, Proesmans W, Leys A, Byerly KA, Braddock SR, Masuno M, Imaizumi K, Devriendt K, Eccles MR. Schimmenti LA, et al. Am J Hum Genet. 1997 Apr;60(4):869-78. Am J Hum Genet. 1997. PMID: 9106533 Free PMC article.
Renal-coloboma syndrome is a recently described autosomal dominant syndrome of abnormal optic nerve and renal development. ...Ocular and/or renal abnormalities have been consistently noted in the five reports of patients with renal-coloboma s …
Renal-coloboma syndrome is a recently described autosomal dominant syndrome of abnormal optic nerve and renal developme …
Renal-coloboma syndrome: report of a novel PAX2 gene mutation.
Chung GW, Edwards AO, Schimmenti LA, Manligas GS, Zhang YH, Ritter R 3rd. Chung GW, et al. Am J Ophthalmol. 2001 Dec;132(6):910-4. doi: 10.1016/s0002-9394(01)01231-4. Am J Ophthalmol. 2001. PMID: 11730657
PURPOSE: To report a novel sporadic PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplasia. DESIGN: Observational case report and experimental study. METHODS: Mutational analysis of the PAX2 gene in a family. ...CONCLUSIO …
PURPOSE: To report a novel sporadic PAX2 gene mutation in a child with atypical bilateral optic nerve coloboma and congenital renal hypoplas …
21 results