Renal-Coloboma Syndrome / Papillorenal Syndrome

Renal-coloboma syndrome is principally characterized by ocular and renal abnormalities. The PAX2 gene encodes a transcription factor that is expressed in the developing eye, kidney, ear, ureteric bud, and midbrain/hindbrain. Individuals diagnosed with renal-coloboma syndrome present with highly variable clinical manifestations. The most common abnormalities in patients with renal-coloboma syndrome are bilateral optic nerve colobomas and renal hypoplasia with or without renal failure. Patients may also present with auditory abnormalities, urogenital defects causing vesico-ureteral reflux, and central nervous system malformations. The phenotypes among patients can vary both within and between families, and definitive genotype-phenotype correlations have largely been elusive.

Tests Available

Forms and Documents

Test Details

  • Confirmation of the clinical diagnosis
  • Differentiation of renal-coloboma syndrome from other coloboma-associated disorders (e.g., morning glory syndrome)
  • Establishment of an appropriate medical management plan
  • Prenatal diagnosis in at-risk pregnancies


3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swabs


  • 585.9 Chronic kidney disease, unspecified Chronic renal disease Chronic renal failure NOS, Chronic renal insufficiency
  • 743.8 Other specified anomalies of eye
  • 389.1 Sensorineural hearing loss, Perceptive hearing loss or deafness
  • 583.9 With unspecified pathological lesion in kidney Glomerulitis NOS, Glomerulonephritis NOS, Nephritis NOS, Nephropathy NOS
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  1. Dureau, P., et al., (2001) Ophthalmology 108(10):1912-1916
  2. Eccles MR., et al., (1999) Clin Genet 56:1-9
  3. Cunliffe HE., et al., (1998) J Med Genet 35:806-812
  4. Raca G., et al., (2011) Genetics in Medicine 13(5):437-442