A Case Report of Renal Coloboma Syndrome

Renal coloboma syndrome (RCS) is also known as papillorenal syndrome. It is a highly variable autosomal dominant genetic disease characterized by the abnormal development of the kidney and eyes. Approximately 50% of reported cases are related to mutations in the PAX2 gene. Herein, we report the case of a patient with the most common mutation site variant in RCS, but with the presentation of specific renal imaging findings and mild ocular manifestations. The patient is a female, urological Magnetic Resonance Imaging (MRI) revealed multiple cystic lesions adjacent to the renal pelvis, gene detection revealed PAX2 gene c.76dup mutation, subsequent eye examination found the optic disc is small and compact, and a large number of myelinated nerve fibers in both eyes. This patient presented with new clinical manifestations of RCS with the most common mutation site variant. These findings contribute to further delineating the clinical characteristics of RCS, enhancing our understanding of this disease.