Ophthalmologic findings in biotinidase deficiency

Bonnie Anne Salbert, Juan Astruc, Barry Wolf*

*Corresponding author for this work

Research output: Contribution to journalArticle

28 Scopus citations


Biotinidase deficiency is an autosomal recessively inherited metabolic disorder characterized by neurological and cutaneous manifestations and metabolic abnormalities. We studied 78 symptomatic children and found that 51% had ophthalmologic abnormalities. These include infections (30%), optic neuropathies and visual disturbances (13%), motility disturbances (13%), retinal pigment changes (4%) and pupillary findings (1%). The most commonly reported findings are optic atrophy and kcratoconjunctivities. Although the disorder can be effectively treated with biotin therapy, untreated children are at risk of developing permanent neuro-ophthalmic damage.

Original languageEnglish (US)
Pages (from-to)177-181
Number of pages5
Issue number4
StatePublished - Jan 1 1993


  • Biotinidase deficiency
  • Conjunctivitis
  • Ophthalmologic abnormalities
  • Optic atrophy

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

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