Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts

Abstract

Retinal degeneration in children occurs in errors of lipid, peroxisomal and mitochondrial (including respiratory chain) metabolism. In this review the most frequent inborn errors of metabolism with retinal degeneration are discussed including abetalipoproteinaemia, classical Refsum disease, neuronal ceroid lipofuscinosis, hydroxydicarboxylic aciduria, Sjögren-Larsson syndrome, infantile Refsum disease, Kearns-Sayre syndrome and gyrate atrophy. These metabolic disorders must be differentiated from those with retinal degeneration but without known metabolic basis. In patients with such a disorder metabolic investigations should be considered whenever atypical manifestations are encountered.