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

Abstract

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
JournalOphthalmologica
Volume206
Issue number4
DOIs
StatePublished - Jan 1 1993

Keywords

  • Biotinidase deficiency
  • Conjunctivitis
  • Ophthalmologic abnormalities
  • Optic atrophy

ASJC Scopus subject areas

  • Ophthalmology
  • Sensory Systems

Fingerprint Dive into the research topics of 'Ophthalmologic findings in biotinidase deficiency'. Together they form a unique fingerprint.

  • Cite this