Renal coloboma syndrome

Retinal Abnormalities Characteristic of Inherited Renal Disease

“…Coloboma are typically asymmetrical with, for example, a normal eye or mild defect in one eye, and a severe central abnormality in the other. 27 Likewise, the severity of the defect varies in individual members of a family. There is no treatment and they may be complicated by glaucoma, retinal detachment, and central serous retinopathy.…”

“…Inheritance is autosomal dominant, but only 50% of patients with the renal-coloboma syndrome have PAX2 mutations. 22,27 The other genes are not known. PAX2 mutations are different in each family and have their effect through interfering with the vascular supply of the urinary tract and eye.…”

Renal coloboma syndrome associated with double- chambered right ventricle

“…Therefore identifying PAX2 mutation is not necessary for definite diagnosis which is particularly based on clinical evaluation. Mutations in PAX2 have been identified in 50% of persons with RCS (1,8) and it is estimated that about half of individuals with RCS do not have a known genetic basis (9). In our patient PAX2 gene were amplified from extracted DNA by using polymerase chain reaction primers.…”

Genetics of vesicoureteral reflux

“…51 to date, PAX2, the gene encoding the transcription factor PaX2 (10q24.31), is the only gene known to be associated with rCs. 70 studies have reported that 50% of individuals with rCs have mutations in PAX2, 71 and three genomic rearrangements of PAX2 have been shown to be linked with rCs-a de novo 10;13 chromosome translocation, and two deletions of the entire PAX2 locus. 72 as rCs is inherited in an autosomal dominant manner, individuals from families with an identified mutation or probands can be tested by sequence analysis HDr dysplasia syndrome Hypoparathyroidism-deafness-renal dysplasia (HDr) syndrome includes the association of hypoparathyroidism, sensorineural deafness and renal disease, including vur.…”