Related Experiment Video
Updated: May 8, 2026

Grossing of Non-neoplastic Globes, Including Fetal Eyes
Published on: May 30, 2025
Association between graves' disease and renal coloboma syndrome: a case report
Takeshi Sato1, Koji Muroya, Junko Hanakawa
1Department of Endocrinology and Metabolism, Kanagawa Children's Medical Center, Kanagawa, Japan ; Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
Abstract:
Renal coloboma syndrome is an autosomal dominant condition characterized by renal lesions and optic nerve abnormalities. We report an 11-yr-old Japanese girl with familial renal coloboma syndrome, who also had Graves' disease. Four affected family members had a previously reported heterozygous mutation (c.76dupG, p.Val26Glyfs*28) in the PAX2 gene. We hypothesized that PAX2 mutations may increase the risk of autoimmune diseases through alterations of human β-defensin 1 expression.
Related Concept Videos
Graves' Disease I: Introduction
Graves Disease II: Pathophysiology
Renal Corpuscle
Glomerulus: Structure and Function
The glomerulus is a tiny, intricate network of capillaries located at the beginning of the nephron. It's enveloped by the Bowman's capsule and receives its blood supply from an afferent arteriole, which divides into numerous capillaries...
Urinary Tract Calculi II: Pathophysiology and Clinical Manifestations
Chronic Kidney Disease II: Clinical Manifestations
Acute Kidney Injury IV: Diagnostic Studies and Prevention