Optic Neuropathy Clinical Trial
Official title:
BIOtinidase Test In Optic-Neuropathy
Biotinidase is an enzyme that recycles biotin, a water-soluble vitamin essential as a
coenzyme for four carboxylases that are involved in gluconeogenesis, fatty acid synthesis,
and in the catabolism of several branch-chain amino acids. Biotinidase deficiency (BD) is an
autosomal recessively inherited disorder. Patients with profound BD (<10% of mean normal
serum biotinidase activity) presents, usually during early childhood, with neurological
(seizures, hypotonia, ataxia, developmental delay, vision problems, and/or hearing loss) and
non-neurological findings (metabolic acidosis, respiratory difficulties, alopecia and/or skin
rash) that may progress to coma or death if untreated.
Three cases of adult-onset biotinidase deficiency with reversible optic neuropathy have
recently been described in France, where there is no neonatal screening of BP. Once treated
with Biotin, patients' vision was fully restored.
This study aims to assess the prevalence of BP among a population of patients with idiopathic
optic neuropathy, and to assess the efficacy of Biotin supplementation on visual impairment
in these patients.
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