TY - JOUR
T1 - Metabolic pigmentary retinopathies: diagnosis and therapeutic attempts
AU - Poll-The, B. T.
AU - Billette de Villemeur, T.
AU - Abitbol, M.
AU - Dufier, J. L.
AU - Saudubray, J. M.
PY - 1992
Y1 - 1992
N2 - 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
AB - 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
U2 - https://doi.org/10.1007/BF02073880
DO - https://doi.org/10.1007/BF02073880
M3 - Review article
C2 - 1728538
SN - 0340-6199
VL - 151
SP - 2
EP - 11
JO - European journal of pediatrics
JF - European journal of pediatrics
IS - 1
ER -