To our knowledge, this is the first report of an ABO-incompatible living-donor renal transplant without a splenectomy performed in a patient with renal coloboma syndrome, a rare disorder caused by PAX2 gene mutations, and that presents with renal and [ncbi.nlm.nih.gov]

[…] right ventricle. ( 23443859 ) GAPkAse G....SobacA G. 2013 10 Papillorenal syndrome with de novo reciprocal translocation t(2;15) (q31; q26). ( 24032291 ) Aydin B....Okumus N. 2013 11 Successful ABO-Incompatible Living-Donor Renal Transplant Without Splenectomy [malacards.org]

Almost 10% of RCS patients had kidney failure at age 10, while that figure reached almost 20% by age 20. [otago.ac.nz]

Treatment Treatment Options: Kidney failure may require renal transplantation. Vesicoureteral reflex has been treated with ureteral reimplantation. Low vision aids may be beneficial in some patients. Renal hypertension requires treatment. [disorders.eyes.arizona.edu]

Our patient had bilateral small kidneys with renal insufficiency which currently progressed to end stage renal failure at the age of 15. [jstage.jst.go.jp]

Abdominal ultrasound revealed bilateral small kidneys (left 8.5 cm, right 7 cm) but no other structural anomaly of the urinary tract. Family pedigree and mutational analysis. ( A ) The family pedigree is shown. [ncbi.nlm.nih.gov]

Abdominal ultrasound revealed bilateral small kidneys (left 8.5 cm, right 7 cm) but no other structural anomaly of the urinary tract. Fig. 1. Family pedigree and mutational analysis. ( A ) The family pedigree is shown. [academic.oup.com]

[…] retina 0000541 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Percent of people who have these symptoms is not available through HPO Arnold-Chiari type I malformation 0007099 Autosomal dominant inheritance 0000006 Chorioretinal atrophy 0000533 Gliosis [rarediseases.info.nih.gov]

Foam cells were noted in the interstitium. His CKD progressed to ERSD and he commenced haemodialysis at the age of 39 years. He had known congenital optic disc anomalies and papilloedema, as well as a left homonymous haemianopia. [ncbi.nlm.nih.gov]