SNP Shot: Genomic Insights

Renal coloboma syndrome, also called papillorenal syndrome, is a disorder that mainly impacts the development of the kidneys (renal system) and eyes. Individuals with this syndrome often have kidneys that are smaller than normal and underdeveloped, a condition known as hypoplastic kidneys. Hypoplasia can progress to end-stage renal disease (ESRD), a severe condition where the kidneys can no longer properly filter fluids and waste from the body. Around 10% of children diagnosed with hypoplastic kidneys are estimated to have renal coloboma syndrome. The kidney issues may affect either one or both kidneys.

Furthermore, individuals with renal coloboma syndrome can exhibit malformations of the optic nerve, the structure responsible for transmitting visual information from the eye to the brain. These optic nerve malformations are sometimes linked to a coloboma, which is a gap or hole, in the retina, the light-sensitive tissue at the back of the eye. The visual impairments resulting from these abnormalities can vary greatly, depending on the size and location of the malformation. Some individuals experience no vision problems, while others may suffer from significant visual impairment.

Less frequently observed characteristics of renal coloboma syndrome include vesicoureteral reflux (the backward flow of urine from the bladder), multiple cysts in the kidneys, overly flexible joints, and slight hearing impairment.

Inheritance:

Renal coloboma syndrome follows an autosomal dominant inheritance pattern. This means that only one copy of the mutated gene in each cell is enough to cause the disorder.