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Optic nerve atrophy in propionic acidemia.

Tsontcho Ianchulev1, Talia Kolin, Kathryn Moseley

  • 1Department of Ophthalmology, Keck School of Medicine of the University of Southern California, Los Angeles, California, USA. tianchul@post.harvard.edu

Ophthalmology
|September 18, 2003
PubMed
Summary
This summary is machine-generated.

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Propionic acidemia can cause optic nerve atrophy in males, affecting vision. This condition, diagnosed in newborns, requires careful ocular monitoring, especially in boys.

Area of Science:

  • Ophthalmology
  • Metabolic Disorders
  • Genetics

Background:

  • Propionic acidemia is a rare metabolic disorder presenting in the neonatal period.
  • Key features include ketoacidosis, lethargy, failure to thrive, and developmental delay.

Purpose of the Study:

  • To investigate and report ocular findings in a prospective series of pediatric patients diagnosed with propionic acidemia.
  • To specifically assess optic nerve function and optic disc appearance in these patients.

Main Methods:

  • Prospective case series design.
  • Comprehensive ophthalmic examinations were conducted on six children (ages 2-10) with propionic acidemia.
  • Evaluations included visual acuity, ocular motility, anterior segment, and funduscopic assessments, focusing on optic nerve health.

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Main Results:

  • Optic nerve atrophy was observed exclusively in all male patients, ranging from moderate to severe and appearing symmetric and age-dependent.
  • No optic nerve impairment was detected in female patients.
  • No other ocular abnormalities were noted, except for one case of unilateral morning glory syndrome.

Conclusions:

  • Male patients with propionic acidemia exhibit moderate to severe bilateral optic atrophy.
  • The findings highlight a significant sex-specific ocular complication associated with propionic acidemia.