Metabolic Pigmentary Retinopathies

Abstract

The diagnosis and management of inborn errors of metabolism associated with retinal degeneration are reviewed from the Clinique et Unité de Recherche de Génétique Médicale, the Hopital des Enfants Malades and the Opthalmologic Department et Formation Associée de Recherches Claude Bernard, Hopital Necker - Enfants-Malades - Laennec, Paris, France.

Keywords

• metabolic retinal degeneration
• infantile refsum diseases
• peroxisomal disorders