Publications by authors named "R Wanders"
Retinitis pigmentosa (RP) is a progressive inherited retinal dystrophy, characterized by the degeneration of photoreceptors, presenting as a rod-cone dystrophy. Approximately 20-30% of patients with RP also exhibit extra-ocular manifestations in the context of a syndrome. This manuscript discusses the broad spectrum of syndromes associated with RP, pathogenic mechanisms, clinical manifestations, differential diagnoses, clinical management approaches, and future perspectives.
View Article and Find Full Text PDFBackground: Inherited metabolic diseases (IMDs) may have considerable implications for patients and their families. Despite their individual rarity, covering a spectrum of over 1800 distinct diseases, the diseases collectively exert a significant impact, with often lifelong disabilities. The United for Metabolic Diseases consortium was established to catalyze research with translation into the best possible care.
View Article and Find Full Text PDFArticle Synopsis
- - Glyoxylate, a toxic byproduct of metabolism, is rapidly converted into oxalate, necessitating effective detoxification systems in various cell compartments, with key enzymes AGT and GRHPR involved in this process.
- - Mutations in genes encoding AGT and GRHPR lead to primary hyperoxaluria types 1 and 2, respectively, while a defect in the HOGA1 enzyme is associated with type 3, all resulting in serious kidney issues such as nephrocalcinosis and potential kidney failure.
- - Recent advancements in therapies, particularly RNAi-based treatments (lumasiran and nedosiran), are improving outcomes for primary hyperoxaluria, with nedosiran targeting all