Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts

  title={Metabolic pigmentary retinopathies: Diagnosis and therapeutic attempts},
  author={Bwee Tien Poll-The and Thierry Billette de Villemeur and M. H. Abitbol and Jean Louis Dufier and Jean Marie Saudubray},
  journal={European Journal of Pediatrics},
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… CONTINUE READING


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