Table 1 Clinical and genetic information of patients with renal coloboma syndrome (RCS).

From: Identification of candidate PAX2-regulated genes implicated in human kidney development

Case

Age (diagnostic age)

Sex

PAX2 mutation

Kidney

Ocular fundus

Morphology

Kidney function

1

48 (44)

Female

Ex2 c.119-120delGC

R40H fsX13

Hypoplasia

Atrophy

HD

4

2

43 (34)

Female

Ex2 c.212G > C

R71T

Malrotation

HD

6

3

42 (37)

Female

Ex2 c.187G > A

G63S

Hypoplasia

Atrophy

Cr 2.20

4

  1. The ocular fundus score was evaluated based on the methods described in previous studies14.
  2. The score of ocular fundus: Score 0, normal optic disc; Score 1, optic disc dysplasia with an unusual pattern of the retinal vessels and cilioretinal arteries; Score 2, optic disc pit associated with vascular abnormalities and cilioretinal artery; Score 3, large coloboma involving the entire surface of the optic disc; Score 4, large coloboma of the optic disc and adjacent retina or morning glory anomaly (with radial emergence of the retinal vessels)14.
  3. HD hemodialysis, Cr serum creatinine, Ex exon.
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