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Updated: Aug 4, 2026
Rat Model of Photochemically-Induced Posterior Ischemic Optic Neuropathy
Published on: November 29, 2015
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
Insights
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.
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.
Objective:
Propionic acidemia is a rare metabolic disorder that is diagnosed in the early neonatal period. The disorder is characterized by life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. Herein we report the ocular findings in a prospective series of six patients with propionic acidemia.
Design:
Prospective case series.
Participants:
Six children (three male and three female) between the ages of 2 and 10 years with propionic acidemia who were examined at Children's Hospital Los Angeles.
Methods:
A complete ophthalmic examination was performed on each of the six children. The examination included visual acuity testing, ocular motility, anterior segment examination, and funduscopic evaluation. Emphasis was placed on the function of the optic nerve and on the appearance of the optic disc, looking for possible atrophic changes.
Main Outcome Measures:
The clinical appearance of the optic disc and evidence of optic neuropathy.
Results:
Optic nerve atrophy was present exclusively in all of the male patients in the series; none of the female patients demonstrated any detectable impairment of optic nerve function. The optic nerve atrophy was symmetric and age dependent and varied from moderate to severe. There were no other anterior or posterior segment abnormalities, other than one case of unilateral morning glory syndrome, diagnosed at birth. There was no correlation between metabolic control and the development and progression of optic nerve atrophy.
Conclusions:
Males with propionic acidemia have moderate to severe bilateral optic atrophy.
